SHOX2

GENE INFORMATION

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Gene name

SHOX2 (HGNC Symbol)

Synonyms

OG12, OG12X, SHOT

Description

Short stature homeobox 2 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

3

Cytoband

q25.32

Chromosome location (bp)

158095954 - 158106503

Protein evidence

Evidence at transcript level (all genes)

Ensembl

ENSG00000168779 (version 78.38)

Entrez gene

6474

UniProt

O60902 (UniProt - Evidence at transcript level)

neXtProt

NX_O60902

Antibodypedia

SHOX2 antibodies
 

PROTEIN VIEW

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SHOX2-001
 
SHOX2-002
 
SHOX2-003
 
SHOX2-005
 
SHOX2-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SHOX2-001 ENSP00000374240
ENST00000389589
O60902
Show all »
Show » Show » 355 37.6 No 0
SHOX2-002 ENSP00000397099
ENST00000441443
O60902
Show all »
Show » Show » 331 35 No 0
SHOX2-003 ENSP00000419362
ENST00000483851
O60902
Show all »
Show » Show » 319 33.6 No 0
SHOX2-005 ENSP00000479329
ENST00000554685
Show » Show » 147 16.6 No 0
SHOX2-201 ENSP00000398704
ENST00000425436
A6NLG4
Show all »
Show » Show » 190 21 No 0