DISEASES

Disease-gene associations mined from literature

Literature associating ERBB3 and Hirschsprung's disease

ERBB3 [ENSP00000267101]

Receptor tyrosine-protein kinase erbB-3; Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins. Binds to neuregulin-1 (NRG1) and is activated by it; ligand-binding increases phosphorylation on tyrosine residues and promotes its association with the p85 subunit of phosphatidylinositol 3-kinase . May also be activated by CSPG5 . Involved in the regulation of myeloid cell differentiation .

Synonyms:  ERBB3,  ERBB3p,  hERBB3,  A0A2R8Y6T4,  B3KWG5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM