Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



SHOX Gene

protein-coding   GIFtS: 55
GCID: GC0XP000585

Short Stature Homeobox

  See SHOX-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Short Stature Homeobox1 2     SS2
Pseudoautosomal Homeobox-Containing Osteogenic Protein2 3     Growth Control Factor, X-Linked2
PHOG2 3     Short Stature Homeobox Protein2
GCFX2     Short Stature Homeobox-Containing Protein3
SHOXY2     

External Ids:    HGNC: 108531   Entrez Gene: 64732   Ensembl: ENSG000001859607   OMIM: 312865,4000205   UniProtKB: O152663   

Export aliases for SHOX gene to outside databases

Previous GC identifers: GC0XP000427 GC0YU900006 GC0XP000527 GC0YP000555


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for SHOX Gene:
This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y
chromosomes. Defects in this gene are associated with idiopathic growth retardation and in the short stature
phenotype of Turner syndrome patients. This gene is highly conserved across species from mammals to fish to
flies. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.
(provided by RefSeq, Jul 2008)

GeneCards Summary for SHOX Gene:
SHOX (short stature homeobox) is a protein-coding gene. Diseases associated with SHOX include langer mesomelic dwarfism, and shox-related haploinsufficiency disorders. GO annotations related to this gene include transcription regulatory region sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is ALX1.

UniProtKB/Swiss-Prot: SHOX_HUMAN, O15266
Function: Controls fundamental aspects of growth and development

Gene Wiki entry for SHOX (Short stature homeobox gene) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_187358.1  NC_000024.9  NT_167201.2  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SHOX gene promoter:
         PPAR-alpha   SRY   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSHOX promoter sequence
   Search Chromatin IP Primers for SHOX

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SHOX


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22.33;Yp11.3   Ensembl cytogenetic band:  Xp22.33   HGNC cytogenetic band: Xp22.33 and Yp11.32

SHOX Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SHOX gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP000585:  view genomic region     (about GC identifiers)

Start:
585,079 bp from pter      End:
620,146 bp from pter
Size:
35,068 bases      Orientation:
plus strand

1 alternative location:
ChrY+ 535,079-570,146     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: SHOX_HUMAN, O15266 (See protein sequence)
Recommended Name: Short stature homeobox protein  
Size: 292 amino acids; 32236 Da
Miscellaneous: The gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y
chromosomes
Secondary accessions: O00412 O00413 O15267
Alternative splicing: 2 isoforms:  O15266-1   O15266-2   

Explore the universe of human proteins at neXtProt for SHOX: NX_O15266

Explore proteomics data for SHOX at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SHOX Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000442.1  NP_006874.1  

    ENSEMBL proteins: 
     ENSP00000452016   ENSP00000370987   ENSP00000335505   ENSP00000370990  

    SHOX Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for SHOX
    OriGene Protein Over-expression Lysate for SHOX
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SHOX
    GenScript Custom Purified and Recombinant Proteins Services for SHOX
    Novus Biologicals SHOX Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SHOX

     
    Search eBioscience for Proteins for SHOX 

     
    antibodies-online proteins for SHOX 

     
    antibodies-online peptides for SHOX

    SHOX Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SHOX
    Novus Biologicals SHOX Antibody
    Abcam antibodies for SHOX
    Cloud-Clone Corp. Antibodies for SHOX
    Search ThermoFisher Antibodies for SHOX
    antibodies-online antibodies for SHOX (10 products) 

    SHOX Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SHOX
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SHOX
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SHOX
    Cloud-Clone Corp. CLIAs for SHOX
    Search eBioscience for ELISAs for SHOX 
    antibodies-online kits for SHOX (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    PAR1: Pseudoautosomal regions / PAR1
    PRD: Homeoboxes / PRD class

    5 InterPro protein domains:
     IPR003654 OAR_dom
     IPR000047 HTH_motif
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry O15266

    ProtoNet protein and cluster: O15266

    2 Blocks protein domains:
    IPB000047 Lambda and other repressor helix-turn-helix signature
    IPB003654 Paired-like homeodomain protein


    UniProtKB/Swiss-Prot: SHOX_HUMAN, O15266
    Similarity: Belongs to the paired homeobox family. Bicoid subfamily
    Similarity: Contains 1 homeobox DNA-binding domain


    Find genes that share domains with SHOX           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SHOX_HUMAN, O15266
    Function: Controls fundamental aspects of growth and development
    Induction: By retinoic acid and phorbol-12-myristate 13-acetate (PMA)

         Genatlas biochemistry entry for SHOX:
    short stature homeo box-containing gene,with two alternatively spliced forms SHOXa widely expressed,and SHOXb
    predominantly found in bone marrow,fibroblast,homolog to murine OG-12a,OG-12b

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000976transcription regulatory region sequence-specific DNA binding IEA--
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI--
    GO:0043565sequence-specific DNA binding ----
         
    Find genes that share ontologies with SHOX           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SHOX:
     Decreased TP53 protein express 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SHOX

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat SHOX using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SHOX (see all 15):
    hsa-miR-92a hsa-miR-137 hsa-miR-196a* hsa-miR-374b hsa-miR-25 hsa-miR-367 hsa-miR-16-1* hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidSHOX 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SHOX
    Predesigned siRNA for gene silencing in human, mouse, rat SHOX

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SHOX

    Clone
    Products:
         
    OriGene clones in human, mouse for SHOX (see all 9)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SHOX (NM_000451)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SHOX
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SHOX

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SHOX
    Browse ESI BIO Cell Lines and PureStem Progenitors for SHOX 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHOX


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    SHOX_HUMAN, O15266: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    Find genes that share ontologies with SHOX           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus



        Pathway & Disease-focused RT2 Profiler PCR Array including SHOX: 
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SHOX

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for SHOX (O152661, 3 ENSP000003709904) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SOX5P357111, 3, ENSP000003089274EBI-3505698,EBI-3505701 I2D: score=1 STRING: ENSP00000308927
    SOX6P357121, 3EBI-3505698,EBI-3505706 I2D: score=1 
    CSNK2A1P684003, ENSP000002172444I2D: score=1 STRING: ENSP00000217244
    RAB14ENSP000003629464STRING: ENSP00000362946
    PAX3ENSP000003759214STRING: ENSP00000375921
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS9590292
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006366transcription from RNA polymerase II promoter TAS9259282

    Find genes that share ontologies with SHOX           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SHOX

    2 Novoseek inferred chemical compound relationships for SHOX gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    steroid 0 2 12153748 (1), 11260213 (1)
    estrogen 0 7 19169482 (3), 12153748 (3)



    Find genes that share compounds with SHOX           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for SHOX gene (2 alternative transcripts): 
    NM_000451.3  NM_006883.2  

    Unigene Cluster for SHOX:

    Short stature homeobox
    Hs.105932  [show with all ESTs]
    Unigene Representative Sequence: U89331
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000554971 ENST00000381575 ENST00000334060(uc004cpi.3) ENST00000381578(uc004cph.1)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SHOX using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SHOX (see all 15):
    hsa-miR-92a hsa-miR-137 hsa-miR-196a* hsa-miR-374b hsa-miR-25 hsa-miR-367 hsa-miR-16-1* hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidSHOX 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SHOX
    Predesigned siRNA for gene silencing in human, mouse, rat SHOX
    Clone
    Products:
         
    OriGene clones in human, mouse for SHOX (see all 9)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SHOX (NM_000451)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SHOX
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SHOX
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SHOX
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat SHOX
      QuantiTect SYBR Green Assays in human, mouse, rat SHOX
      QuantiFast Probe-based Assays in human, mouse, rat SHOX

    Additional mRNA sequence: 

    U89331.1 Y11535.1 Y11536.1 

    4 DOTS entries:

    DT.120651921  DT.308671  DT.100648898  DT.121312346 

    8 AceView cDNA sequences:

    Y11536 Y11535 BV184529 NM_006883 AW291358 NM_000451 U89331 BF514224 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    SHOX expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACCACTGCC
    SHOX Expression
    About this image


    SHOX expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Head Mesenchyme (Muscoskeletal System)
             Head Mesenchyme
     
     Limb (Muscoskeletal System)
    SHOX Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SHOX Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.105932

    UniProtKB/Swiss-Prot: SHOX_HUMAN, O15266
    Tissue specificity: SHOXA is expressed in skeletal muscle, placenta, pancreas, heart and bone marrow fibroblast
    and SHOXB is highly expressed in bone marrow fibroblast followed by kidney and skeletal muscle. SHOXB is not
    expressed in brain, kidney, liver and lung. Highly expressed in osteogenic cells

        Pathway & Disease-focused RT2 Profiler PCR Array including SHOX: 
              Homeobox (HOX) Genes in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for SHOX
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat SHOX
    QuantiTect SYBR Green Assays in human, mouse, rat SHOX
    QuantiFast Probe-based Assays in human, mouse, rat SHOX
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHOX

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for SHOX gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia SHOX1 short stature homeobox 90.26(n)
    95.53(a)
      491706  NM_001025622.1  NP_001020793.1 
    chicken
    (Gallus gallus)
    Aves SHOX1 short stature homeobox 84.77(n)
    93.13(a)
      418669  NM_001079724.1  NP_001073192.1 
    lizard
    (Anolis carolinensis)
    Reptilia SHOX6
    short stature homeobox
    85(a)
    1 ↔ 1
    3(112627255-112658194)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia shox1 short stature homeobox 75.09(n)
    88.24(a)
      100486480  XM_004911817.1  XP_004911874.1 
    zebrafish
    (Danio rerio)
    Actinopterygii shox1 short stature homeobox 75.85(n)
    87.28(a)
      664748  NM_001126411.1  NP_001119883.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG343676
    --
    32(a)
    1 → many
    2L(10347822-10353905)
    worm
    (Caenorhabditis elegans)
    Secernentea alr-16
    Protein ALR-1 (alr-1) mRNA, complete cds
    18(a)
    many ↔ many
    X(11121944-11125615) WBGene00044330


    ENSEMBL Gene Tree for SHOX (if available)
    TreeFam Gene Tree for SHOX (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for SHOX gene
    ALX12  PHOX2B2  ARX2  RAX2  DRGX2  SHOX22  PRRX12  PHOX2A2  
    ALX42  ISX2  RAX22  ALX32  OTP2  PRRX22  
    2 SIMAP similar genes for SHOX using alignment to 1 protein entry:     SHOX_HUMAN:
    SHOX2    RAX2

    Find genes that share paralogs with SHOX           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    4 SNPs for SHOX    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0194154
    Leri-Weill dyschondrosteosis (LWD)4--see VAR_0194152 R L mis40--------
    VAR_0123464
    Leri-Weill dyschondrosteosis (LWD)4--see VAR_0123462 R C mis40--------
    VAR_0194164
    Langer mesomelic dysplasia (LMD)4--see VAR_0194162 R W mis40--------
    VAR_0194144
    Leri-Weill dyschondrosteosis (LWD)4--see VAR_0194142 L V mis40--------

    HapMap Linkage Disequilibrium report for SHOX (585079 - 620146 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SHOX (see all 22):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2739500CNV Deletion23290073
    esv2739505CNV Deletion23290073
    esv2739498CNV Deletion23290073
    esv2739502CNV Deletion23290073
    esv2739503CNV Deletion23290073
    esv2739494CNV Deletion23290073
    esv2739495CNV Deletion23290073
    esv2739504CNV Deletion23290073
    esv2664240CNV Deletion23128226
    esv2739497CNV Deletion23290073

    Human Gene Mutation Database (HGMD): SHOX
    Locus Specific Mutation Databases (LSDB): SHOX

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SHOX
    DNA2.0 Custom Variant and Variant Library Synthesis for SHOX

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 312865,400020    OMIM disorders: --

    UniProtKB/Swiss-Prot: SHOX_HUMAN, O15266
  • Leri-Weill dyschondrosteosis (LWD) [MIM:127300]: Dominantly inherited skeletal dysplasia characterized by
    moderate short stature predominantly because of short mesomelic limb segments. It is often associated with the
    Madelung deformity of the wrist, comprising bowing of the radius and dorsal dislocation of the distal ulna.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Langer mesomelic dysplasia (LMD) [MIM:249700]: Autosomal recessive rare skeletal dysplasia characterized
    by severe short stature owing to shortening and maldevelopment of the mesomelic and rhizomelic segments of the
    limbs. Associated malformations are rarely reported and intellect is normal in all affected subjects reported to
    date. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Short stature, idiopathic, X-linked (ISS) [MIM:300582]: A condition defined by a standing height more
    than 2 standard deviations below the mean (or below the 2.5 percentile) for sex and chronological age, compared
    with a well-nourished, genetically relevant population, in the absence of specific causative disorders. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 18 diseases for SHOX:    
    About MalaCards
    langer mesomelic dwarfism    shox-related haploinsufficiency disorders    langer mesomelic dysplasia    triple x syndrome
    leri weill dyschondrosteosis    short stature, idiopathic familial    shox-related short stature    renal-hepatic-pancreatic dysplasia 2
    mayer-rokitansky-kuster-hauser syndrome    turner syndrome    becker muscular dystrophy    hypochondroplasia
    renal-hepatic-pancreatic dysplasia    short stature    otitis media    klinefelter's syndrome
    meier-gorlin syndrome    dwarfism

    2 diseases from the University of Copenhagen DISEASES database for SHOX:
    Turner syndrome     Hypochondroplasia

    Find genes that share disorders with SHOX           About GenesLikeMe

    Selected Novoseek inferred disease relationships for SHOX gene (see all 19)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leri-weill dyschondrosteosis 99 63 10549307 (3), 10626546 (3), 11503314 (3), 15356038 (2) (see all 39)
    madelungs deformity 97.8 26 11874178 (3), 17028440 (2), 11408757 (1), 12362035 (1) (see all 17)
    langer mesomelic dysplasia 97.7 16 16807223 (1), 15173321 (1), 19724992 (1), 11186941 (1) (see all 13)
    short stature 93.2 199 17182655 (7), 11874178 (6), 10634394 (5), 11889216 (5) (see all 75)
    turners syndrome 91 52 11889216 (3), 19016538 (3), 10634394 (2), 9259282 (2) (see all 36)
    cubitus valgus 86.8 4 17182655 (1), 11889216 (1), 10599728 (1), 11889214 (1)
    skeletal dysplasia 77.8 6 18797583 (1), 11503314 (1), 18228171 (1), 17994562 (1)
    growth failure 71.8 12 10634394 (3), 15356038 (2), 17922307 (2), 19724992 (1) (see all 8)
    hypochondroplasia 71.8 3 12476453 (2), 11030412 (1)
    dwarfism 62.4 4 9590292 (1), 18228171 (1), 11260213 (1), 15214013 (1)

    GeneTests: SHOX
    GeneReviews: SHOX
    Genetic Association Database (GAD): SHOX
    Human Genome Epidemiology (HuGE) Navigator: SHOX (3 documents)

    Export disorders for SHOX gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for SHOX gene, integrated from 10 sources (see all 161) (see top 10):
    (articles sorted by number of sources associating them with SHOX)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PHOG, a candidate gene for involvement in the short stature of Turner syndrome. (PubMed id 9259282)1, 2, 3, 9 Ellison J.W....Chiong W. (Hum. Mol. Genet. 1997)
    2. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. (PubMed id 9140395)1, 2, 3, 9 Rao E.... Rappold G.A. (Nat. Genet. 1997)
    3. Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. (PubMed id 11889216)1, 4, 9 Rappold G.A....Ogata T. (J. Clin. Endocrinol. Metab. 2002)
    4. SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features. (PubMed id 11889214)1, 2, 9 Ogata T.... Hattori T. (J. Clin. Endocrinol. Metab. 2002)
    5. Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain. (PubMed id 19578035)1, 4, 9 Chen J....Rappold G. (J. Med. Genet. 2009)
    6. Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia. (PubMed id 11030412)1, 2, 9 Grigelioniene G.... Hagenaes L. (Hum. Genet. 2000)
    7. SHOX point mutations in dyschondrosteosis. (PubMed id 11403039)1, 2, 9 Huber C.... Cormier-Daire V. (J. Med. Genet. 2001)
    8. Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome). (PubMed id 11891678)1, 2, 9 Cormier-Daire V.... Munnich A. (Am. J. Med. Genet. 2001)
    9. Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1. (PubMed id 20375215)1, 4 D'haene B....De Baere E. (J. Clin. Endocrinol. Metab. 2010)
    10. SHOX intragenic microsatellite analysis in patients with short stature. (PubMed id 11874178)1, 9 Ezquieta B....Gracia R. (amp 2002)
    11. PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of LAcri-Weill dyschondrosteosis (LWD) probands. (PubMed id 16941489)1, 9 Benito-Sanz S....Heath K.E. (Hum. Mutat. 2006)
    12. SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability. (PubMed id 17201812)1, 9 Jorge A.A....Mendonca B.B. (Clin. Endocrinol. (Oxf) 2007)
    13. A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. (PubMed id 16175500)1, 9 Benito-Sanz S....Heath K.E. (Am. J. Hum. Genet. 2005)
    14. Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. (PubMed id 17182655)1, 9 Rappold G....Niesler B. (J. Med. Genet. 2007)
    15. BNP is a transcriptional target of the short stature homeobox gene SHOX. (PubMed id 17881654)1, 9 Marchini A....Rappold G. (Hum. Mol. Genet. 2007)
    16. Phosphorylation on Ser106 modulates the cellular functions of the SHOX homeodomain protein. (PubMed id 16325853)1, 9 Marchini A....Rappold G. (J. Mol. Biol. 2006)
    17. Enhancer elements upstream of the SHOX gene are active in the developing limb. (PubMed id 19997128)1, 9 Durand C....Rappold G. (Eur. J. Hum. Genet. 2010)
    18. High incidence of SHOX anomalies in individuals with short stature. (PubMed id 16597678)1, 9 Huber C....Cormier-Daire V. (J. Med. Genet. 2006)
    19. SHOX gene is expressed in vertebral body growth plates in idiopathic and congenital scoliosis: implications for the etiology of scoliosis in Turner syndrome. (PubMed id 19016538)1, 9 Day G....Tomlinson F. (J. Orthop. Res. 2009)
    20. Imaging of SHOX-associated anomalies. (PubMed id 19724992)1, 9 Gahunia H.K....Mendoza-Londono R. (Semin Musculoskelet Radiol 2009)
    21. [Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment]. (PubMed id 18797583)1, 9 Jorge A.A....MendonAsa B.B. (Arq Bras Endocrinol Metabol 2008)
    22. Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with LAcri-Weill dyschondrosteosis. (PubMed id 18322641)1, 9 Fukami M....Ogata T. (J. Hum. Genet. 2008)
    23. Expression of SHOX in human fetal and childhood growth plate. (PubMed id 15292358)1, 9 Munns C.J....Batch J.A. (J. Clin. Endocrinol. Metab. 2004)
    24. Familial growth and skeletal features associated with SHOX haploinsufficiency. (PubMed id 14513875)1, 9 Munns C.F....Batch J.A. (amp 2003)
    25. The human SHOX mutation database. (PubMed id 12402330)1, 9 Niesler B....Rappold G.A. (Hum. Mutat. 2002)
    26. Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis. (PubMed id 15931687)1, 9 Schneider K.U....Rappold G. (Hum. Mutat. 2005)
    27. SHOX mutations in a family and a fetus with Langer mesomelic dwarfism. (PubMed id 15214013)1, 9 Thomas N.S....Castle B. (Am. J. Med. Genet. A 2004)
    28. The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes. (PubMed id 15145945)1, 9 Marchini A....Rappold G.A. (J. Biol. Chem. 2004)
    29. Impairment of SHOX nuclear localization as a cause for LAcri-Weill syndrome. (PubMed id 15173321)1, 9 Sabherwal N....Rappold G. (J. Cell. Sci. 2004)
    30. Deletion of the SHOX gene in patients with short stature of unknown cause. (PubMed id 12784295)1, 9 Morizio E....Palka G. (Am. J. Med. Genet. A 2003)
    31. Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients. (PubMed id 17200153)1, 9 Sabherwal N....Rappold G. (Hum. Mol. Genet. 2007)
    32. Short stature and dysmorphology associated with defects in the SHOX gene. (PubMed id 16807223)1, 9 Leka S.K....Kanavakis E. (Hormones (Athens) 2006)
    33. Statural growth in 31 Japanese patients with SHOX haploinsufficiency: support for a disadvantageous effect of gonadal estrogens. (PubMed id 15118270)1, 9 Fukami M....Ogata T. (Endocr. J. 2004)
    34. Translocation (Y;22) resulting in the loss of SHOX and isolated short stature. (PubMed id 14981722)1, 9 Borie C....Eydoux P. (Am. J. Med. Genet. A 2004)
    35. Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes. (PubMed id 17994562)1, 9 Bleyl S.B....Carey J.C. (Am. J. Med. Genet. A 2007)
    36. Identification of a major recombination hotspot in patients with short stature and SHOX deficiency. (PubMed id 15931595)1, 9 Schneider K.U....Rappold G. (Am. J. Hum. Genet. 2005)
    37. The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator. (PubMed id 11751690)1, 9 Rao E....Rappold G.A. (Hum. Mol. Genet. 2001)
    38. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). (PubMed id 9590292)1, 9 Belin V....Cormier-Daire V. (Nat. Genet. 1998)
    39. Anthropometric evaluation of children with SHOX mutations can be used as indication for genetic studies in children of short stature. (PubMed id 17911654)1, 9 Jorge A.A. and Arnhold I.J. (J. Med. Genet. 2007)
    40. The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia. (PubMed id 17935511)1, 9 Bertorelli R....Forabosco A. (Clin. Genet. 2007)
    41. Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots. (PubMed id 16826534)1, 9 Benito-Sanz S....Heath K.E. (Am. J. Hum. Genet. 2006)
    42. SHOX gene in Leri-Weill syndrome and in idiopathic short stature. (PubMed id 11716161)1, 9 Bernasconi S....Forabosco A. (J. Endocrinol. Invest. 2001)
    43. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. (PubMed id 9590293)1, 9 Shears D.J....Winter R.M. (Nat. Genet. 1998)
    44. Comparative transgenic analysis of enhancers from the human SHOX and mouse Shox2 genomic regions. (PubMed id 23575226)1 Rosin J.M....Cobb J. (Hum. Mol. Genet. 2013)
    45. Bone geometry and volumetric bone density at the radius in patients with isolated SHOX deficiency. (PubMed id 23426705)1 Soucek O....Sumnik Z. (amp 2013)
    46. Prepubertal girls with Turner syndrome and children with isolated SHOX deficiency have similar bone geometry at the radius. (PubMed id 23666967)1 Soucek O....Sumnik Z. (J. Clin. Endocrinol. Metab. 2013)
    47. Height outcome of the recombinant human growth hormone treatment in patients with SHOX gene haploinsufficiency: a meta-analysis. (PubMed id 23570464)1 Massart F....Miccoli M. (Pharmacogenomics 2013)
    48. New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia. (PubMed id 22903874)1 Song S.H....Song H.R. (Am. J. Med. Genet. A 2012)
    49. Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature. (PubMed id 22071895)1 Benito-Sanz S....Heath K.E. (Eur. J. Hum. Genet. 2012)
    50. Impaired GH secretion in patients with SHOX deficiency and efficacy of recombinant human GH therapy. (PubMed id 23208451)1 Iughetti L....Predieri B. (Horm Res Paediatr 2012)
    51. The homeobox transcription factor HOXA9 is a regulator of SHOX in U2OS cells and chicken micromass cultures. (PubMed id 23028966)1 Durand C....Rappold G. (PLoS ONE 2012)
    52. IGF1, IGF1R and SHOX mutation analysis in short children born small for gestational age and short children with normal birth size (idiopathic short stature). (PubMed id 22572840)1 Caliebe J....Losekoot M. (Horm Res Paediatr 2012)
    53. A novel intronic mutation in SHOX causes short stature by disrupting a splice acceptor site: direct demonstration of aberrant splicing by expression of a minigene in HEK-293T cells. (PubMed id 23426818)1 Danzig J. and Levine M.A. (amp 2012)
    54. SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and LAcri-Weill dyschondrosteosis. (PubMed id 22020182)1 Hirschfeldova K....Stekrova J. (Gene 2012)
    55. Identification of the first recurrent PAR1 deletion in LAcri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer. (PubMed id 22791839)1 Benito-Sanz S....Heath K.E. (J. Med. Genet. 2012)
    56. Genotypes and phenotypes of children with SHOX deficiency in France. (PubMed id 22518848)1 Rosilio M....Cormier-Daire V. (J. Clin. Endocrinol. Metab. 2012)
    57. New roles of SHOX as regulator of target genes. (PubMed id 22946287)1 Rappold G.A....Schneider K.U. (Pediatr Endocrinol Rev 2012)
    58. SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer. (PubMed id 21262861)1 Aza-Carmona M....Heath K.E. (Hum. Mol. Genet. 2011)
    59. Identification of a Gypsy SHOX mutation (p.A170P) in LAcri-Weill dyschondrosteosis and Langer mesomelic dysplasia. (PubMed id 21712857)1 Barca-Tierno V....Heath K.E. (Eur. J. Hum. Genet. 2011)
    60. FGFR3 is a target of the homeobox transcription factor SHOX in limb development. (PubMed id 21273290)1 Decker E....Rappold G. (Hum. Mol. Genet. 2011)
    61. Clinical and radiological characteristics of 22 children with SHOX anomalies and familial short stature suggestive of LAcri-Weill Dyschondrosteosis. (PubMed id 21912078)1 Salmon-Musial A.S....Nicolino M. (Horm Res Paediatr 2011)
    62. Evaluation of SHOX copy number variations in patients with MA1llerian aplasia. (PubMed id 21806840)1 Sandbacka M....Laivuori H. (Orphanet J Rare Dis 2011)
    63. The role of the SHOX gene in the pathophysiology of Turner syndrome. (PubMed id 21925981)1 Oliveira C.S. and Alves C. (Endocrinol Nutr 2011)
    64. The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis. (PubMed id 21068148)1 Kant S.G....Breuning M.H. (J. Clin. Endocrinol. Metab. 2011)
    65. Functional redundancy between human SHOX and mouse Shox2 genes in the regulation of sinoatrial node formation and pacemaking function. (PubMed id 21454626)1 Liu H....Chen Y. (J. Biol. Chem. 2011)
    66. Alternative splicing and nonsense-mediated RNA decay contribute to the regulation of SHOX expression. (PubMed id 21448463)1 Durand C....Rappold G. (PLoS ONE 2011)
    67. Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS). (PubMed id 21147883)1 Benito-Sanz S....Heath K.E. (J. Clin. Endocrinol. Metab. 2011)
    68. Short stature due to SHOX deficiency: genotype, phenotype, and therapy. (PubMed id 21325865)1 Binder G. (Horm Res Paediatr 2011)
    69. A short history of the initial discovery of the SHOX gene. (PubMed id 21057177)1 Bernasconi S. and Garavelli L. (J. Endocrinol. Invest. 2010)
    70. Short stature caused by isolated SHOX gene haploinsufficiency: update on the diagnosis and treatment. (PubMed id 21150837)1 Jorge A.A....Mendonca B.B. (Pediatr Endocrinol Rev 2010)
    71. Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks. (PubMed id 20683993)1 Reish O....Cormier-Daire V. (Am. J. Med. Genet. A 2010)
    72. Epidemiology of SHOX deficiency. (PubMed id 21057178)1 Nicolosi A. and Caruso-Nicoletti M. (J. Endocrinol. Invest. 2010)
    73. Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with LAcri-Weill dyschondrosteosis (LWD). (PubMed id 20412871)1 Barroso E....Heath K.E. (Eur J Med Genet 2010)
    74. SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome. (PubMed id 20847698)1 Gervasini C....Miozzo M. (Genet. Med. 2010)
    75. The SHOX region and its mutations. (PubMed id 21057179)1 Capone L....Forabosco A. (J. Endocrinol. Invest. 2010)
    76. Height gains in response to growth hormone treatment to final height are similar in patients with SHOX deficiency and Turner syndrome. (PubMed id 19188742)1 Blum W.F....Binder G. (Horm. Res. 2009)
    77. Novel SHOX gene mutation in a short boy with Becker muscular dystrophy: double trouble in two adjacent genes. (PubMed id 18059093)1 Messina M.F....De Luca F. (Horm. Res. 2008)
    78. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (Nature 2005)
    79. Cardiovascular risk factors in Turner syndrome. (PubMed id 15529627)1 Lichiardopol C. and Mota M. (Rom J Intern Med 2004)
    80. Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX. (PubMed id 12960152)1 Blaschke R.J....Rappold G.A. (J. Biol. Chem. 2003)
    81. Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX. (PubMed id 12089524)1 May C.A....Jeffreys A.J. (Nat. Genet. 2002)
    82. Complete SHOX deficiency causes Langer mesomelic dysplasia. (PubMed id 12116254)1 Zinn A.R....Ross J.L. (Am. J. Med. Genet. 2002)
    83. FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes. (PubMed id 9254856)1 Rao E....Rappold G.A. (Hum. Genet. 1997)
    84. Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s). (PubMed id 8558568)1 Ogata T....Yokoya S. (J. Med. Genet. 1995)
    85. X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies. (PubMed id 7815426)1 Kuznetzova T....Vakharlovsky V. (J. Med. Genet. 1994)
    86. SHOX-Related Haploinsufficiency Disorders (PubMed id 20301394)1 Pagon R.A....Stephens K. (1993)
    87. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. (PubMed id 2602357)1 Ballabio A....Fraccaro M. (Proc. Natl. Acad. Sci. U.S.A. 1989)
    88. The role of Yp in sex determination: new evidence from X/Y translocations. (PubMed id 6954848)1 Zuffardi O....Perotti L. (Am. J. Med. Genet. 1982)
    89. SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity. (PubMed id 15356038)9 Binder G....Ranke M.B. (J. Clin. Endocrinol. Metab. 2004)
    90. Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature. (PubMed id 14557470)9 Binder G....Martin D.D. (J. Clin. Endocrinol. Metab. 2003)
    91. Expression of the short stature homeobox gene Shox is restricted by proximal and distal signals in chick limb buds and affects the length of skeletal elements. (PubMed id 16904661)9 Tiecke E....Tickle C. (Dev. Biol. 2006)
    92. SHOX: pseudoautosomal homeobox containing gene for short stature and dyschondrosteosis. (PubMed id 10549307)9 Ogata T. (amp 1999)
    93. Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay. (PubMed id 17091221)9 Gatta V....Stuppia L. (J. Hum. Genet. 2007)
    94. Phenotypes Associated with SHOX Deficiency. (PubMed id 11739418)9 Ross J.L....Zinn A.R. (J. Clin. Endocrinol. Metab. 2001)
    95. Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone. (PubMed id 10634394)9 Binder G....Ranke M.B. (J. Clin. Endocrinol. Metab. 2000)
    96. SHOX at a glance: from gene to protein. (PubMed id 17922307)9 Marchini A....Schneider K.U. (Arch. Physiol. Biochem. 2007)
    97. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. (PubMed id 10749976)9 Clement-Jones M....Rappold G.A. (Hum. Mol. Genet. 2000)
    98. Unexpected phenotype in a boy with trisomy of the SHOX gene. (PubMed id 20432819)9 Iughetti L....El Kholy M. (amp 2010)
    99. Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity. (PubMed id 11735031)9 Grigelioniene G....Dumanski J.P. (Hum. Genet. 2001)
    100. Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature. (PubMed id 19533800)9 Thomas N.S....Hastings R. (Am. J. Med. Genet. A 2009)
    101. Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature. (PubMed id 17028440)9 Shanske A.L....Saenger P. (Horm. Res. 2007)
    102. Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature. (PubMed id 11585080)9 Musebeck J....Stumm M. (Eur. J. Pediatr. 2001)
    103. SHOX haploinsufficiency and overdosage: impact of gonadal function status. (PubMed id 11134233)9 Ogata T....Nishimura G. (J. Med. Genet. 2001)
    104. Tall stature and poor breast development after estrogen replacement in a hypergonadotrophic hypogonadic patient with a 45,X/46,X,der(X) karyotype with SHOX gene overdosage. (PubMed id 19169482)9 Nishi M.Y....Mendonca B.B. (Arq Bras Endocrinol Metabol 2008)
    105. Cryptic intragenic deletion of the SHOX gene in a family with LAcri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA). (PubMed id 19169498)9 Funari M.F....Nishi M.Y. (Arq Bras Endocrinol Metabol 2008)
    106. The novel human SHOX allelic variant database. (PubMed id 17726696)9 Niesler B....Rappold G. (Hum. Mutat. 2007)
    107. [From gene to disease; from SHOX to LA"ri-Weill dyschondrosteosis, Turner syndrome and idiopathic short stature]. (PubMed id 11503314)9 Kant S.G. and Drop S.L. (Ned Tijdschr Geneeskd 2001)
    108. Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation. (PubMed id 11260213)9 Seidel J....Rappold G.A. (Clin. Genet. 2001)
    109. SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome. (PubMed id 10626546)9 Cormier-Daire V....Munnich A. (Acta Paediatr Suppl 1999)
    110. Effect of growth hormone therapy on severe short stature and skeletal deformities in a patient with combined Turner syndrome and Langer mesomelic dysplasia. (PubMed id 19850687)9 Shah B.C....Pappas J.G. (J. Clin. Endocrinol. Metab. 2009)
    111. SNPS in the promoter regions of the canine RMRP and SHOX genes are not associated with canine chondrodysplasia. (PubMed id 18228171)9 Young A.E. and Bannasch D.L. (Anim. Biotechnol. 2008)
    112. Longitudinal auxological study in a female with SHOX (short stature homeobox containing gene) haploinsufficiency and normal ovarian function. (PubMed id 14514349)9 Fukami M....Ogata T. (Eur. J. Endocrinol. 2003)
    113. Growth hormone and gonadotropin-releasing hormone analog therapy in haploinsufficiency of SHOX. (PubMed id 11523902)9 Ogata T....Rappold G. (Endocr. J. 2001)
    114. SHOX: growth, LAcri-Weill and Turner syndromes. (PubMed id 10878753)9 Blaschke R.J. and Rappold G.A. (Trends Endocrinol. Metab. 2000)
    115. Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome. (PubMed id 10599728)9 Kosho T....Ogata T. (J. Clin. Endocrinol. Metab. 1999)
    116. Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial. (PubMed id 17047016)9 Blum W.F....Rappold G. (J. Clin. Endocrinol. Metab. 2007)
    117. The pseudoautosomal regions, SHOX and disease. (PubMed id 16650979)9 Blaschke R.J. and Rappold G. (amp 2006)
    118. The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. (PubMed id 16227037)9 Ross J.L....Zinn A.R. (J. Pediatr. 2005)
    119. Growth pattern and body proportion in a female with short stature homeobox-containing gene overdosage and gonadal estrogen deficiency. (PubMed id 12153748)9 Ogata T....Ogawa M. (Eur. J. Endocrinol. 2002)
    120. SHOX in short stature syndromes. (PubMed id 11408757)9 Blaschke R.J. and Rappold G.A. (Horm. Res. 2001)
    121. Association of intrauterine growth retardation with monosomy of the terminal segment of the short arm of the X chromosome in patients with Turner's syndrome. (PubMed id 11093045)9 Yaegashi N....Yajima A. (Gynecol. Obstet. Invest. 2000)
    122. Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male. (PubMed id 10507731)9 Stuppia L....Palka G. (J. Med. Genet. 1999)
    123. Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy. (PubMed id 20425825)9 Ottesen A.M....Juul A. (Am. J. Med. Genet. A 2010)
    124. Cryptic Xp duplication including the SHOX gene in a woman with 46,X, del(X)(q21.31) and premature ovarian failure. (PubMed id 17981816)9 Tachdjian G....Christin-Maitre S. (Hum. Reprod. 2008)
    125. Shox2 is required for chondrocyte proliferation and maturation in proximal limb skeleton. (PubMed id 17481601)9 Yu L....Chen Y. (Dev. Biol. 2007)
    126. Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation. (PubMed id 15264287)9 Kwee M.L....Gille J.J. (Am. J. Med. Genet. A 2004)
    127. Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia. (PubMed id 12476453)9 Ross J.L....Zinn A.R. (Am. J. Med. Genet. A 2003)
    128. A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family. (PubMed id 12673642)9 Karaman B....BaA9aran S. (Prenat. Diagn. 2003)
    129. An active ring X and haploinsufficiency of SHOX contribute to short stature, congenital anomalies, and developmental delay in a female. (PubMed id 12439897)9 Shago M....Teshima I. (Am. J. Med. Genet. 2002)
    130. Short stature in a mother and daughter caused by familial der(X)t(X;X)(p22.1-3;q26). (PubMed id 11471178)9 Reinehr T....Andler W. (Am. J. Med. Genet. 2001)
    131. Histopathological analysis of Leri-Weill dyschondrosteosis: disordered growth plate. (PubMed id 11677662)9 Munns C.F....Vickers D. (Hand Surg 2001)
    132. Phenotypic variation and genetic heterogeneity in LAcri-Weill syndrome. (PubMed id 10713888)9 Schiller S....Rappold G.A. (Eur. J. Hum. Genet. 2000)
    133. Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis. (PubMed id 10905666)9 Palka G....Calabrese G. (Clin. Genet. 2000)
    134. Severe SHOX gene haploinsufficiency in a girl with a novel mutation (M1T) involving the first codon of coding region. (PubMed id 19636220)9 Wasniewska M....De Luca F. (J. Endocrinol. Invest. 2010)
    135. A duplication encompassing the SHOX gene and the downstream evolutionarily conserved sequences. (PubMed id 19938087)9 Roos L....TA1mer Z. (Am. J. Med. Genet. A 2009)
    136. Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype. (PubMed id 19864454)9 Ester W.A....Losekoot M. (J. Clin. Endocrinol. Metab. 2009)
    137. Leg length, proportion, health and beauty: a review. (PubMed id 20440962)9 Bogin B. and Varela-Silva M.I. ( Bericht ├╝ber die biologisch-anthropologische Literatur 2009)
    138. Zirconium oxide regulates RNA interfering of osteoblast-like cells. (PubMed id 18253813)9 Palmieri A....Carinci F. (J Mater Sci Mater Med 2008)
    139. [Low height and rare diseases]. (PubMed id 18953371)9 Chueca Guindulain M....OyarzA!bal M. (An Sist Sanit Navar 2008)
    140. Two distinctive mechanisms leading to disruption of the SHOX transcription unit in a single family. (PubMed id 17994568)9 Izumi K....Kosaki K. (Am. J. Med. Genet. A 2007)
    141. The Human Pseudoautosomal Region (PAR): Origin, Function and Future. (PubMed id 18660847)9 Helena Mangs A. and Morris B.J. (Curr. Genomics 2007)
    142. First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation. (PubMed id 17497716)9 Dupont C....Dupont J.M. (Am. J. Med. Genet. A 2007)
    143. A second recombination hotspot associated with SHOX deletions. (PubMed id 16572514)9 Zinn A.R....Ross J.L. (Am. J. Hum. Genet. 2006)
    144. Acromegaloidism with normal growth hormone secretion associated with X-tetrasomy. (PubMed id 16832583)9 Alvarez-VA!zquez P....GarcA-a-Mayor R.V. (Pituitary 2006)
    145. Subterminal deletion/duplication event in an affected male due to maternal X chromosome pericentric inversion. (PubMed id 15309625)9 Kokalj-Vokac N....Gregoric A. (Eur. J. Pediatr. 2004)
    146. A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for LAcri-Weill dyschondrosteosis and Langer dysplasia. (PubMed id 15173249)9 Sabherwal N....Rappold G. (J. Med. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 6473 HGNC: 10853 AceView: SHOX.1 Ensembl:ENSG00000185960 euGenes: HUgn6473
    ECgene: SHOX H-InvDB: SHOX

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for SHOX Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SHOX[genesymbol]
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SHOXY[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for SHOX gene:
    Search GeneIP for patents involving SHOX

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for SHOX  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for SHOX  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for SHOX  
     OriGene qSTAR qPCR primer pairs in human, mouse for SHOX   OriGene Purified Protein for SHOX  
     Browse OriGene ORF clones   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SHOX   OriGene Custom Protein Services for SHOX  

     
     
     Block miRNA regulation of human, mouse, rat SHOX using miScript Target Protectors SeqTarget long-range PCR primers for resequencing SHOX
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SHOX Predesigned siRNA for gene silencing in human, mouse, rat SHOX
     QuantiFast Probe-based Assays in human, mouse, rat SHOX QuantiTect SYBR Green Assays in human, mouse, rat SHOX
     PCR Arrays including human, mouse, rat SHOX Search Chromatin IP Primers for SHOX
     Pre-validated RT2 qPCR Primer Assay in human, mouse / rat SHOX  GeneGlobe Interaction Network for SHOX
     Regulatory tfbs in SHOX promoter
     GenScript Custom Purified and Recombinant Proteins Services for SHOX GenScript cDNA clones with any tag delivered in your preferred vector for SHOX
     GenScript Custom Assay Services for SHOX GenScript Custom overexpressing Cell Line Services for SHOX
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for SHOX
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     SHOX antibodies
     SHOX lysates
     Antibodies for SHOX
     See all of Abcam's Antibodies, Kits and Proteins for SHOX
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for SHOX
     Antibodies for SHOX
     ELISAs for SHOX
     CLIAs for SHOX



     Browse ESI BIO Cell Lines and PureStem Progenitors for SHOX
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHOX
     SwitchGear 3'UTR luciferase reporter plasmids for SHOX
     SwitchGear Promoter luciferase reporter plasmids for SHOX
     Search ThermoFisher Antibodies for SHOX
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SHOX
     Browse compounds at ApexBio
     Search Addgene for plasmids for SHOX
      Search eBioscience for proteins for SHOX
      Search eBioscience for elisas for SHOX
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for SHOX
     antibodies-online antibodies for SHOX (10 products)
     antibodies-online kits for SHOX (2 products)
     antibodies-online peptides for SHOX
     antibodies-online proteins for SHOX
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      SHOX gene at Home site.
    Version: 3.12.252 27 Nov 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4