Details for Gene ERBB4

GENE NAME ERBB4
CHROMOSOME 2
ENSEMBL ID None
ENTREZ ID ENSG00000178568
UNIPROT ACCESSION NUMBER Q15303
GO MOLECULAR FUNCTION ['epidermal growth factor receptor binding', 'protein tyrosine kinase activity', 'protein homodimerization activity', 'transmembrane receptor protein tyrosine kinase activity', 'protein serine/threonine/tyrosine kinase activity', 'transcription cis-regulatory region binding', 'protein binding', 'ATP binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04010; hsa04012; hsa04020; hsa04151; hsa05014; hsa05205
8 combinations linked to ERBB4 OLI1042; OLI905; OLI1639; OLI959; OLI907; OLI1588; OLI882; OLI867
6 variants linked to ERBB4 ERBB4:c.1972A>T, p.Ile658Phe; ERBB4:c.2395A>G, p.Met799Val; ERBB4:c.95C>T, p.Thr32Met; ERBB4:c.3344T>A, p.Val1115Glu; ERBB4:c.3446C>A, p.Gly1149Val; ERBB4:c.1879G>A, p.Gly627Ser
4 diseases linked to ERBB4 Normosmic congenital hypogonadotropic hypogonadism; Amyotrophic lateral sclerosis; Primary ovarian failure; Kallmann syndrome

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