InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ADAMTSL2

Summary

InnateDB Protein

IDBP-91477.6

Last Modified

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

Gene Symbol

ADAMTSL2

Protein Name

ADAMTS-like 2

Synonyms

GPHYSD1;

Species

Homo sapiens

Ensembl Protein

ENSP00000346478

InnateDB Gene

IDBG-91475 (ADAMTSL2)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Secreted {ECO:0000305}.

Disease Associations

Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]: An autosomal recessive disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone- shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues. {ECO:0000269PubMed:18677313, ECO:0000269PubMed:21415077}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.