InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SHOX

Summary

InnateDB Protein

IDBP-39237.6

Last Modified

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

Gene Symbol

SHOX

Protein Name

short stature homeobox

Synonyms

GCFX; PHOG; SHOXY; SS;

Species

Homo sapiens

Ensembl Protein

ENSP00000370990

InnateDB Gene

IDBG-39235 (SHOX)

Protein Structure

UniProt Annotation

Function

Controls fundamental aspects of growth and development.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00108, ECO:0000255PROSITE-ProRule:PRU00138}.

Disease Associations

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. {ECO:0000269PubMed:11030412, ECO:0000269PubMed:11403039}. 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. {ECO:0000269PubMed:11889214}. 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. {ECO:0000269PubMed:9140395}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
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
GO:0005515	protein binding