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SHOX2 Gene

protein-coding   GIFtS: 53
GCID: GC03M157813

Short Stature Homeobox 2

  See SHOX2-related disease
at  

(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 Homeobox 21 2     OG12X2 3
SHOT2 3 5     OG122 5
Homeobox Protein Og12X2 3     Short Stature Homeobox Protein 22
Paired-Related Homeobox Protein SHOT2 3     SHOX Homologous Gene On Chromosome 32

External Ids:    HGNC: 108541   Entrez Gene: 64742   Ensembl: ENSG000001687797   OMIM: 6025045   UniProtKB: O609023   

Export aliases for SHOX2 gene to outside databases

Previous GC identifers: GC03M154850 GC03M158760 GC03M159095 GC03M159135 GC03M159297 GC03M155210


(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 SHOX2 Gene:
This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue
motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional
regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic
disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox
gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature
phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange
syndrome. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Jul 2009)

GeneCards Summary for SHOX2 Gene:
SHOX2 (short stature homeobox 2) is a protein-coding gene. Diseases associated with SHOX2 include hard palate cancer. 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: SHOX2_HUMAN, O60902
Function: May be a growth regulator and have a role in specifying neural systems involved in processing
somatosensory information, as well as in face and body structure formation

Gene Wiki entry for SHOX2 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 at NCBI GenBank:
NC_000003.11  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SHOX2 gene promoter:
         AREB6   CP2   COMP1   aMEF-2   CUTL1   POU3F2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSHOX2 promoter sequence
   Search Chromatin IP Primers for SHOX2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SHOX2


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

Entrez Gene cytogenetic band: 3q25.32   Ensembl cytogenetic band:  3q25.32   HGNC cytogenetic band: 3q25.32

SHOX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SHOX2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M157813:  view genomic region     (about GC identifiers)

Start:
157,813,800 bp from pter      End:
157,824,292 bp from pter
Size:
10,493 bases      Orientation:
minus strand

(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.)
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UniProtKB/Swiss-Prot: SHOX2_HUMAN, O60902 (See protein sequence)
Recommended Name: Short stature homeobox protein 2  
Size: 331 amino acids; 34953 Da
Developmental stage: Expressed during cranofacial development as well as in heart
Sequence caution: Sequence=AAC39662.1; Type=Erroneous initiation; Sequence=CAA05341.1; Type=Erroneous initiation;
Sequence=CAA05342.1; Type=Erroneous initiation;
Secondary accessions: O60465 O60467 O60903
Alternative splicing: 3 isoforms:  O60902-1   O60902-2   O60902-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SHOX2: NX_O60902

Explore proteomics data for SHOX2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SHOX2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001157150.1  NP_003021.3  NP_006875.2  

    ENSEMBL proteins: 
     ENSP00000451888   ENSP00000398704   ENSP00000374240   ENSP00000419362   ENSP00000397099  

    SHOX2 Human Recombinant Protein Products:

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    Novus Biologicals SHOX2 Proteins
    Novus Biologicals SHOX2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SHOX2

     
    Search eBioscience for Proteins for SHOX2 

     
    antibodies-online proteins for SHOX2 (6 products) 

     
    antibodies-online peptides for SHOX2

    SHOX2 Antibody Products:

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    antibodies-online antibodies for SHOX2 (25 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    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 O60902

    ProtoNet protein and cluster: O60902

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


    UniProtKB/Swiss-Prot: SHOX2_HUMAN, O60902
    Similarity: Belongs to the paired homeobox family. Bicoid subfamily
    Similarity: Contains 1 homeobox DNA-binding domain


    Find genes that share domains with SHOX2           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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SHOX2_HUMAN, O60902
    Function: May be a growth regulator and have a role in specifying neural systems involved in processing
    somatosensory information, as well as in face and body structure formation

         Genatlas biochemistry entry for SHOX2:
    murine homeo box Og12X homolog,strongly expressed in developing craniofacial,brain,heart and in the mesenchym of
    developing limbs,highly homologous to SHOX

         Gene Ontology (GO): 4 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:0043565sequence-specific DNA binding ----
         
    Find genes that share ontologies with SHOX2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SHOX2:
     Decreased viability of wild-ty 

         8 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Shox2):
     cardiovascular system  craniofacial  digestive/alimentary  growth/size/body  homeostasis/metabolism 
     limbs/digits/tail  mortality/aging  skeleton 

    Find genes that share phenotypes with SHOX2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SHOX2: Shox2tm1.1Ddu Shox2tm1Acgg Shox2tm1Ypc

       genOway: Develop your customized and physiologically relevant rodent model for SHOX2

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SHOX2 (see all 51):
    hsa-miR-579 hsa-miR-4291 hsa-miR-607 hsa-miR-300 hsa-miR-4328 hsa-miR-4272 hsa-miR-875-5p hsa-miR-578
    SwitchGear 3'UTR luciferase reporter plasmidSHOX2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SHOX2
    Predesigned siRNA for gene silencing in human, mouse, rat SHOX2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 3): SHOX2 (NM_006884)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SHOX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SHOX2

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    Browse ESI BIO Cell Lines and PureStem Progenitors for SHOX2 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHOX2


    (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
    SHOX2_HUMAN, O60902: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

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

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

    Find genes that share ontologies with SHOX2           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).
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        Pathway & Disease-focused RT2 Profiler PCR Arrays including SHOX2: 
              Hedgehog Signaling Pathway in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SHOX2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for SHOX2 (O609023 ENSP000003742404) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRIM29Q141343, ENSP000003431294I2D: score=1 STRING: ENSP00000343129
    KDM5BQ9UGL13, ENSP000003562344I2D: score=1 STRING: ENSP00000356234
    CDK4ENSP000002579044STRING: ENSP00000257904
    RAB14ENSP000003629464STRING: ENSP00000362946
    PAX3ENSP000003759214STRING: ENSP00000375921
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001501skeletal system development TAS9482898
    GO:0001649osteoblast differentiation IEA--
    GO:0002053positive regulation of mesenchymal cell proliferation IEA--
    GO:0002062chondrocyte differentiation ----

    Find genes that share ontologies with SHOX2           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)
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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 SHOX2



    (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 )
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    REFSEQ mRNAs for SHOX2 gene (3 alternative transcripts): 
    NM_001163678.1  NM_003030.4  NM_006884.3  

    Unigene Cluster for SHOX2:

    Short stature homeobox 2
    Hs.55967  [show with all ESTs]
    Unigene Representative Sequence: NM_003030
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000490689 ENST00000425436(uc003fbs.3 uc003fbr.3 uc010hvw.3)
    ENST00000389589 ENST00000483851 ENST00000554685 ENST00000441443
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SHOX2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SHOX2 (see all 51):
    hsa-miR-579 hsa-miR-4291 hsa-miR-607 hsa-miR-300 hsa-miR-4328 hsa-miR-4272 hsa-miR-875-5p hsa-miR-578
    SwitchGear 3'UTR luciferase reporter plasmidSHOX2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SHOX2
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SHOX2 (NM_006884)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SHOX2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SHOX2
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat SHOX2
      QuantiFast Probe-based Assays in human, mouse, rat SHOX2

    Additional mRNA sequence: 

    AF022654.1 AK095338.1 BC008829.2 

    4 DOTS entries:

    DT.114552  DT.95161535  DT.91662085  DT.100751167 

    Selected AceView cDNA sequences (see all 47):

    AA333177 AI332507 AA425419 AI131445 AA425293 AA450208 AI088265 BQ233296 
    AA425429 AK095338 AA833689 BV199885 AJ002367 AI816713 AI277252 AF022654 
    BC008829 AA425170 AI126714 AA235793 NM_006884 AJ002368 AI016607 AI831264 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SHOX2    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c
    SP1:                    -           -     -                                       
    SP2:                    -     -     -     -                                       
    SP3:                    -     -     -     -                       -               
    SP4:                                                              -               
    SP5:                                                                              


    ECgene alternative splicing isoforms for SHOX2

    (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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    SHOX2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACGTGTTGTC
    SHOX2 Expression
    About this image


    SHOX2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Glenoid Fossa Cells Temporomandibular Joint
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             Glenoid Fossa Cells Temporomandibular Joint
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Body Subcutaneous White Adipose
     
     Limb (Muscoskeletal System)
             Limb Muscle Progenitor Cells Forelimb Myotome
    SHOX2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SHOX2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.55967

    UniProtKB/Swiss-Prot: SHOX2_HUMAN, O60902
    Tissue specificity: Expressed in heart, skeletal muscle, liver, lung, bone marrow fibroblast, pancreas and
    placenta

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SHOX2: 
              Hedgehog Signaling Pathway in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for SHOX2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SHOX2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHOX2

    (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 SHOX2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Shox21 , 5 short stature homeobox 21, 5 92.02(n)1
    96.97(a)1
      3 (30.76 cM)5
    204291  NM_013665.11  NP_038693.11 
     669717275 
    chicken
    (Gallus gallus)
    Aves SHOX21 short stature homeobox 2 82.34(n)
    94.55(a)
      777244  XM_003641797.2  XP_003641845.2 
    lizard
    (Anolis carolinensis)
    Reptilia SHOX26
    short stature homeobox 2
    89(a)
    1 ↔ 1
    3(14433463-14447877)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX731714.12   -- 84.84(n)    BX731714.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc658842 similar to short stature homeobox 2 84.52(n)   394171  BC056324.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG343676
    --
    33(a)
    1 → many
    2L(10347822-10353905)
    worm
    (Caenorhabditis elegans)
    Secernentea alr-16
    Protein ALR-1 (alr-1) mRNA, complete cds
    19(a)
    many ↔ many
    X(11121944-11125615) WBGene00044330


    ENSEMBL Gene Tree for SHOX2 (if available)
    TreeFam Gene Tree for SHOX2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SHOX2 gene
    ALX12  PHOX2B2  ARX2  RAX2  DRGX2  PRRX12  PHOX2A2  ALX42  
    ISX2  RAX22  ALX32  SHOX2  OTP2  PRRX22  
    14 SIMAP similar genes for SHOX2 using alignment to 2 protein entries:     SHOX2_HUMAN (see all proteins):
    OTX2    SHOX    PHOX2B    PRRX1    HOXB1    PRRX2
    DUX2    RAX2    PAX6    OTX1    PROP1    RHOXF1
    PAX-3    Pix-1

    Find genes that share paralogs with SHOX2           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)
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    Selected SNPs for SHOX2 (see all 261)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs772414041,2
    C--157813357(+) GAGAGG/AGTCAA 3 -- ds50011Minor allele frequency- A:0.01EA 120
    rs11231151,2
    C,F,H--157813401(-) AACCTA/GGGTTT 3 -- ds500126Minor allele frequency- N:0.00NS EA NA WA 2908
    rs1914138071,2
    --157813585(+) TGCTGA/GGTGGA 3 -- ds50010--------
    rs1502080701,2
    --157813596(+) TAAAAA/TGGAGG 3 -- ds50010--------
    rs2018520961,2
    C--157813676(+) GCACG-/TTAAGA 3 -- ds50010--------
    rs1388057711,2
    C--157813720(+) CGAGAA/GAGTGA 3 -- ds50010--------
    rs2019356391,2
    --157813966(+) AAAAA-/TATGTC 3 -- ut310--------
    rs2002292431,2
    C--157814095(+) AAAAC-/AAAACC 3 -- ut310--------
    rs1835022671,2
    --157814101(+) AAACCC/TCACAA 3 -- ut310--------
    rs1141475081,2
    C,F--157814181(+) TGAATT/GGAAAC 3 -- ut311Minor allele frequency- G:0.02WA 118

    HapMap Linkage Disequilibrium report for SHOX2 (157813800 - 157824292 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SHOX2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv877688CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SHOX2
    DNA2.0 Custom Variant and Variant Library Synthesis for SHOX2

    (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.)
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    OMIM gene information: 602504    OMIM disorders: --

    1 disease for SHOX2:    
    About MalaCards
    hard palate cancer

    2 diseases from the University of Copenhagen DISEASES database for SHOX2:
    Hard palate cancer     Turner syndrome

    Find genes that share disorders with SHOX2           About GenesLikeMe

    1 Novoseek inferred disease relationship for SHOX2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cornelia de lange syndrome 84.5 2 9466998 (1), 9482898 (1)

    Genetic Association Database (GAD): SHOX2
    Human Genome Epidemiology (HuGE) Navigator: SHOX2 (2 documents)

    Export disorders for SHOX2 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)
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    PubMed articles for SHOX2 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with SHOX2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A new human homeobox gene OG12X is a member of the most conserved homeobox gene family and is expressed during heart development in mouse. (PubMed id 9466998)1, 2, 3, 9 Semina E.V.... Murray J.C. (Hum. Mol. Genet. 1998)
    2. SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development. (PubMed id 9482898)1, 2, 3, 9 Blaschke R.J.... Rappold G.A. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    3. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. An unappreciated role for RNA surveillance. (PubMed id 14759258)1, 2 Hillman R.T.... Brenner S.E. (Genome Biol. 2004)
    6. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. (PubMed id 23563607)1 Berndt S.I....Ingelsson E. (Nat. Genet. 2013)
    7. DNA methylation of the homeobox genes PITX2 and SHOX2 predicts outcome in non-small-cell lung cancer patients. (PubMed id 22555092)1 Dietrich D....Soltermann A. (Diagn. Mol. Pathol. 2012)
    8. Shox2 regulates progression through chondrogenesis in the mouse proximal limb. (PubMed id 23038774)1 Bobick B.E. and Cobb J. (J. Cell. Sci. 2012)
    9. Performance evaluation of the DNA methylation biomarker SHOX2 for the aid in diagnosis of lung cancer based on the analysis of bronchial aspirates. (PubMed id 22108652)1 Dietrich D....Field J.K. (Int. J. Oncol. 2012)
    10. Correlation of SHOX2 gene amplification and DNA methylation in lung cancer tumors. (PubMed id 21426551)1 Schneider K.U....Schmidt B. (BMC Cancer 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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    Entrez Gene: 6474 HGNC: 10854 AceView: SHOX2 Ensembl:ENSG00000168779 euGenes: HUgn6474
    ECgene: SHOX2 H-InvDB: SHOX2

    (According to HUGE)
    About This Section

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      --

    (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 SHOX2 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for SHOX2 gene:
    Search GeneIP for patents involving SHOX2

    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
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