ERBB4 Chromosome 2
Erb-b2 receptor tyrosine kinase 4
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What This Gene Does
This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Erb-b2 receptor tyrosine kinases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
2q34
Ensembl
ENSG00000178568
Associated Conditions (6)
Amyotrophic lateral sclerosis type 19
ERBB4-related disorder
Inborn genetic diseases
Amyotrophic lateral sclerosis
Uterine carcinosarcoma
NK-cell enteropathy
Key Variants
RS144311212
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 19, ERBB4-related disorder, Amyotrophic lateral sclerosis type 19
Health Risk
RS190654033
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 19, Amyotrophic lateral sclerosis type 19
Health Risk
RS201275165
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS371593463
Conflicting classifications of pathogenicity
Health Risk
RS397514263
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 19, Amyotrophic lateral sclerosis type 19
Health Risk
RS552079714
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 19, Inborn genetic diseases, Amyotrophic lateral sclerosis type 19
Health Risk
RS568046921
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS754487821
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis, ERBB4-related disorder, Amyotrophic lateral sclerosis
Health Risk
RS76603692
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 19, Amyotrophic lateral sclerosis, ERBB4-related disorder
Health Risk
RS774192228
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1553563398
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1575051224
Likely pathogenic
NK-cell enteropathy, NK-cell enteropathy
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144311212 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 19, ERBB4-related disorder, Amyotrophic lateral sclerosis type 19 |
| RS190654033 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 19, Amyotrophic lateral sclerosis type 19 |
| RS201275165 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS371593463 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS397514263 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 19, Amyotrophic lateral sclerosis type 19 |
| RS552079714 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 19, Inborn genetic diseases, Amyotrophic lateral sclerosis type 19 |
| RS568046921 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS754487821 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis, ERBB4-related disorder, Amyotrophic lateral sclerosis |
| RS76603692 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 19, Amyotrophic lateral sclerosis, ERBB4-related disorder |
| RS774192228 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1553563398 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1575051224 | Health Risk | Likely pathogenic | NK-cell enteropathy, NK-cell enteropathy |
| RS371332509 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis |
| RS2469694284 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2470000000 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS397514262 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 19, Amyotrophic lateral sclerosis type 19 |