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 | OLI867; OLI1639; OLI959; OLI907; OLI1042; OLI905; OLI1588; OLI882 |
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; Primary ovarian failure; Amyotrophic lateral sclerosis; Kallmann syndrome |