DISEASES

Disease-gene associations mined from literature

Literature associating SMAP2 and multiple epiphyseal dysplasia due to collagen 9 anomaly

SMAP2 [ENSP00000361803]

Stromal membrane-associated protein 2; GTPase activating protein that acts on ARF1. Can also activate ARF6 (in vitro). May play a role in clathrin-dependent retrograde transport from early endosomes to the trans-Golgi network (By similarity).

Synonyms:  SMAP2,  SMAP2p,  hSMAP2,  A0A087WV97,  Q8WU79 ...

Linkouts:  STRING  Pharos  UniProt