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Aliases for SHOX2 Gene

Aliases for SHOX2 Gene

  • Short Stature Homeobox 2 2 3
  • SHOT 3 4 6
  • Paired-Related Homeobox Protein SHOT 3 4
  • Homeobox Protein Og12X 3 4
  • OG12X 3 4
  • OG12 3 6
  • SHOX Homologous Gene On Chromosome 3 3
  • Short Stature Homeobox Protein 2 3

External Ids for SHOX2 Gene

Previous GeneCards Identifiers for SHOX2 Gene

  • GC03M154850
  • GC03M158760
  • GC03M159095
  • GC03M159135
  • GC03M159297
  • GC03M157813
  • GC03M155210

Summaries for SHOX2 Gene

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 and cornelia de lange syndrome. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription regulatory region sequence-specific DNA binding. An important paralog of this gene is PHOX2B.

UniProtKB/Swiss-Prot for SHOX2 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SHOX2 Gene

Genomics for SHOX2 Gene

Regulatory Elements for SHOX2 Gene

Genomic Location for SHOX2 Gene

Start:
158,095,954 bp from pter
End:
158,106,503 bp from pter
Size:
10,550 bases
Orientation:
Minus strand

Genomic View for SHOX2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SHOX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SHOX2 Gene

Proteins for SHOX2 Gene

  • Protein details for SHOX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60902-SHOX2_HUMAN
    Recommended name:
    Short stature homeobox protein 2
    Protein Accession:
    O60902
    Secondary Accessions:
    • O60465
    • O60467
    • O60903

    Protein attributes for SHOX2 Gene

    Size:
    331 amino acids
    Molecular mass:
    34953 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC39662.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA05341.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA05342.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SHOX2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SHOX2 Gene

Proteomics data for SHOX2 Gene at MOPED

Post-translational modifications for SHOX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SHOX2 Gene

No data available for DME Specific Peptides for SHOX2 Gene

Domains for SHOX2 Gene

Gene Families for SHOX2 Gene

HGNC:
  • PRD :Homeoboxes / PRD class

Graphical View of Domain Structure for InterPro Entry

O60902

UniProtKB/Swiss-Prot:

SHOX2_HUMAN :
  • O60902
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the paired homeobox family. Bicoid subfamily.
genes like me logo Genes that share domains with SHOX2: view

Function for SHOX2 Gene

Molecular function for SHOX2 Gene

GENATLAS Biochemistry: murine homeo box Og12X homolog,strongly expressed in developing craniofacial,brain,heart and in the mesenchym of developing limbs,highly homologous to SHOX
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for SHOX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with SHOX2: view
genes like me logo Genes that share phenotypes with SHOX2: view

Animal Models for SHOX2 Gene

MGI Knock Outs for SHOX2:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for SHOX2 Gene

Localization for SHOX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SHOX2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SHOX2 Gene COMPARTMENTS Subcellular localization image for SHOX2 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for SHOX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0031965 nuclear membrane IDA --
genes like me logo Genes that share ontologies with SHOX2: view

Pathways for SHOX2 Gene

SuperPathways for SHOX2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SHOX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001501 skeletal system development TAS 9482898
GO:0001649 osteoblast differentiation IEA --
GO:0002053 positive regulation of mesenchymal cell proliferation IEA --
GO:0002062 chondrocyte differentiation --
genes like me logo Genes that share ontologies with SHOX2: view

No data available for Pathways by source for SHOX2 Gene

Transcripts for SHOX2 Gene

Unigene Clusters for SHOX2 Gene

Short stature homeobox 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SHOX2 Gene

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

Relevant External Links for SHOX2 Gene

GeneLoc Exon Structure for
SHOX2
ECgene alternative splicing isoforms for
SHOX2

Expression for SHOX2 Gene

mRNA expression in normal human tissues for SHOX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SHOX2 Gene

This gene is overexpressed in Artery - Tibial (7.2), Nerve - Tibial (6.2), and Adipose - Subcutaneous (5.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SHOX2 Gene

SOURCE GeneReport for Unigene cluster for SHOX2 Gene Hs.55967

mRNA Expression by UniProt/SwissProt for SHOX2 Gene

O60902-SHOX2_HUMAN
Tissue specificity: Expressed in heart, skeletal muscle, liver, lung, bone marrow fibroblast, pancreas and placenta
genes like me logo Genes that share expressions with SHOX2: view

Orthologs for SHOX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SHOX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SHOX2 35
  • 99.81 (n)
  • 100 (a)
SHOX2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SHOX2 35
  • 90.8 (n)
  • 93.8 (a)
SHOX2 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SHOX2 35
  • 94.16 (n)
  • 98.49 (a)
SHOX2 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Shox2 35
  • 92.02 (n)
  • 96.97 (a)
Shox2 16
Shox2 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SHOX2 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SHOX2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Shox2 35
  • 92.13 (n)
  • 97.85 (a)
chicken
(Gallus gallus)
Aves SHOX2 35
  • 82.34 (n)
  • 94.55 (a)
SHOX2 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SHOX2 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia shox2 35
  • 78.86 (n)
  • 87.38 (a)
zebrafish
(Danio rerio)
Actinopterygii shox2 35
  • 78.37 (n)
  • 84.62 (a)
shox2 36
  • 85 (a)
OneToOne
zgc65884 35
fruit fly
(Drosophila melanogaster)
Insecta CG34367 36
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea alr-1 36
  • 19 (a)
ManyToMany
Species with no ortholog for SHOX2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SHOX2 Gene

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

Paralogs for SHOX2 Gene

Paralogs for SHOX2 Gene

Selected SIMAP similar genes for SHOX2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SHOX2: view

Variants for SHOX2 Gene

Sequence variations from dbSNP and Humsavar for SHOX2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs1048243 -- 158,097,672(-) TTGCA(C/T)AGAAA utr-variant-3-prime
rs1063254 -- 158,098,089(-) GCAAG(A/G)ACTCC reference, missense
rs1063256 -- 158,097,729(-) CAGGG(G/T)AGTGC utr-variant-3-prime
rs1123115 -- 158,095,612(-) AACCT(A/G)GGTTT downstream-variant-500B
rs1140219 -- 158,102,858(-) AAAGA(A/C/G)GATGC synonymous-codon, missense, reference, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for SHOX2 Gene

Variant ID Type Subtype PubMed ID
nsv877688 CNV Gain 21882294

Relevant External Links for SHOX2 Gene

HapMap Linkage Disequilibrium report
SHOX2
Human Gene Mutation Database (HGMD)
SHOX2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SHOX2 Gene

Disorders for SHOX2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for SHOX2 Gene including...

Search for SHOX2 Gene in MalaCards »

(2) University of Copenhagen DISEASES for SHOX2 Gene

(1) Novoseek inferred disease relationships for SHOX2 Gene

Disease -log(P) Hits PubMed IDs
cornelia de lange syndrome 84.5 2

Relevant External Links for SHOX2

Genetic Association Database (GAD)
SHOX2
Human Genome Epidemiology (HuGE) Navigator
SHOX2
genes like me logo Genes that share disorders with SHOX2: view

No data available for UniProtKB/Swiss-Prot for SHOX2 Gene

Publications for SHOX2 Gene

  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. (PMID: 9466998) Semina E.V. … Murray J.C. (Hum. Mol. Genet. 1998) 2 3 4 23
  2. SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development. (PMID: 9482898) Blaschke R.J. … Rappold G.A. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 23
  3. An unappreciated role for RNA surveillance. (PMID: 14759258) Hillman R.T. … Brenner S.E. (Genome Biol. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges L.M. … Zmuda J.M. (J. Bone Miner. Res. 2009) 3 48

Products for SHOX2 Gene

Sources for SHOX2 Gene

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