InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: SHOX2

Summary

InnateDB Gene

IDBG-62994.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SHOX2

Gene Name

short stature homeobox 2

Synonyms

OG12; OG12X; SHOT

Species

Homo sapiens

Ensembl Gene

ENSG00000168779

Encoded Proteins

IDBP-63000

short stature homeobox 2

IDBP-385054

short stature homeobox 2

IDBP-385056

short stature homeobox 2

IDBP-813396

short stature homeobox 2

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 3:158095954-158106503

Strand

Reverse strand

Band

q25.32

Transcripts

ENST00000389589	ENSP00000374240
ENST00000425436	ENSP00000398704
ENST00000441443	ENSP00000397099
ENST00000490689
ENST00000554685	ENSP00000479329

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000976	transcription regulatory region sequence-specific DNA binding
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001501	skeletal system development
GO:0001649	osteoblast differentiation
GO:0002053	positive regulation of mesenchymal cell proliferation
GO:0002062	chondrocyte differentiation
GO:0002063	chondrocyte development
GO:0003170	heart valve development
GO:0003209	cardiac atrium morphogenesis
GO:0006355	regulation of transcription, DNA-templated
GO:0007399	nervous system development
GO:0007507	heart development
GO:0030326	embryonic limb morphogenesis
GO:0032330	regulation of chondrocyte differentiation
GO:0035115	embryonic forelimb morphogenesis
GO:0045880	positive regulation of smoothened signaling pathway
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048557	embryonic digestive tract morphogenesis
GO:0048598	embryonic morphogenesis
GO:0048743	positive regulation of skeletal muscle fiber development
GO:0050772	positive regulation of axonogenesis
GO:0060272	embryonic skeletal joint morphogenesis
GO:0060351	cartilage development involved in endochondral bone morphogenesis
GO:0060415	muscle tissue morphogenesis
GO:2000172	regulation of branching morphogenesis of a nerve

Cellular Component

GO:0005634

nucleus

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000027833

View Gene Order

ENSBTAG00000005230

Not yet available

Cross-References

SwissProt

O60902

TrEMBL

A6NLG4

UniProt Splice Variant

Entrez Gene

6474

UniGene

Hs.55967 Hs.597944

RefSeq

NM_001163678 NM_003030 NM_006884

HUGO

HGNC:10854

OMIM

602504

CCDS

CCDS33884 CCDS43164 CCDS54664

HPRD

IMGT

EMBL

AC112502 AF022654 AF023203 AJ002367 AJ002368 AK095338 BC008829 CH471052

GenPept

AAC39662 AAC39663 AAH08829 BAG53030 CAA05341 CAA05342 EAW78696 EAW78698

RNA Seq Atlas

6474