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SHOX Gene

protein-coding   GIFtS: 55
GCID: GC0XP000585

Short Stature Homeobox
  See related diseases
at
MalaCards
 

Aliases
for SHOX gene

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


Summaries
for SHOX gene

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


Genomic Views
for SHOX 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)
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RefSeq DNA sequence:
NC_000023.11  NT_187358.1  NC_000024.10  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 plasmid: SHOX 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     

Proteins
for SHOX gene

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
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    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

    SHOX Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals SHOX Antibody
    Abcam antibodies for SHOX
    Cloud-Clone Corp. Antibodies for SHOX
    Search ThermoFisher Antibodies for SHOX
    LSBio Antibodies in human, mouse, rat for SHOX

    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

    Domains /
    Families
    for SHOX gene

    (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


    SHOX for domains           About GeneDecksing


    Function
    for SHOX gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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 ----
         
    SHOX for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SHOX
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SHOX

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SHOX
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. 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 plasmid: SHOX 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


    Localization
    for SHOX gene

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

    SHOX for ontologies           About GeneDecksing


    Pathways & Interactions
    for SHOX gene

    (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).
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        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

    SHOX for ontologies           About GeneDecksing



    Drugs & Compounds
    for SHOX gene

    (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)
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    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)



    SHOX for compounds           About GeneDecksing



    Transcripts
    for SHOX gene

    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    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 plasmid: SHOX 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


    Expression
    for SHOX gene

    (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)
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    SHOX expression in normal human tissues (normalized intensities)      SHOX embryonic expression: see
    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
    for SHOX gene

    (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)
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    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
    for SHOX gene

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

    SHOX for paralogs           About GeneDecksing



    Genomic Variants
    for SHOX gene

    (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)
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    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

    Disorders / Diseases
    for SHOX gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, 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

    • Selected diseases for SHOX (see all 30):    About MalaCards
    langer mesomelic dwarfism    shox-related haploinsufficiency disorders    turner syndrome    langer mesomelic dysplasia
    triple x syndrome    leri weill dyschondrosteosis    short stature, idiopathic familial    shox-related short stature
    hypochondroplasia    becker muscular dystrophy    short stature    mesomelic dysplasia kantaputra type
    otitis media    meier-gorlin syndrome    dwarfism    mayer-rokitansky-kuster-hauser syndrome
    lymphedema    premature ovarian failure    achondroplasia    klinefelter's syndrome

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

    SHOX for disorders           About GeneDecksing

    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

    Publications
    for SHOX gene

    (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

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    PubMed articles for SHOX gene, integrated from 10 sources (see all 161):
    (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)

    External Searches for SHOX gene

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

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     ANDOR
    Aliases
    Disorders
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      Query String
    		PubMed
    OMIM
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    Genome Databases showing SHOX gene

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

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

    Other Databases showing SHOX gene

    (According to HUGE)
    About This Section

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    Specialized Databases showing SHOX gene

    (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

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    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]

    Intellectual Property
    for SHOX gene

    (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



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