ERBB3 Chromosome 12
Erb-b2 receptor tyrosine kinase 3
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What This Gene Does
This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Erb-b2 receptor tyrosine kinases
Locus Type
gene with protein product
Location
12q13.2
Ensembl
ENSG00000065361
Associated Conditions (10)
ERBB3-related disorder
Erythroleukemia
familial
susceptibility to
Visceral neuropathy
1
autosomal recessive
Lethal congenital contracture syndrome 2
Malignant tumor of urinary bladder
Neoplasm
Key Variants
RS56017157
Conflicting classifications of pathogenicity
ERBB3-related disorder, Erythroleukemia, familial
Health Risk
RS56259600
Conflicting classifications of pathogenicity
Erythroleukemia, familial, susceptibility to
Health Risk
RS755855285
Conflicting classifications of pathogenicity
Erythroleukemia, familial, susceptibility to
Health Risk
RS1057519169
Likely pathogenic
Health Risk
RS141230043
Likely pathogenic
Lethal congenital contracture syndrome 2, Lethal congenital contracture syndrome 2
Health Risk
RS1565859132
Likely pathogenic
Lethal congenital contracture syndrome 2, Lethal congenital contracture syndrome 2
Health Risk
RS2136818517
Likely pathogenic
Visceral neuropathy, familial, 1
Health Risk
RS2136822199
Likely pathogenic
Visceral neuropathy, familial, 1
Health Risk
RS2540758459
Likely pathogenic
ERBB3-related disorder, ERBB3-related disorder
Health Risk
RS762129530
Likely pathogenic
Lethal congenital contracture syndrome 2, Lethal congenital contracture syndrome 2
Health Risk
RS771935902
Likely pathogenic
ERBB3-related disorder, ERBB3-related disorder
Health Risk
RS1057519893
Pathogenic
Malignant tumor of urinary bladder, Neoplasm, Malignant tumor of urinary bladder
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS56017157 | Health Risk | Conflicting classifications of pathogenicity | ERBB3-related disorder, Erythroleukemia, familial |
| RS56259600 | Health Risk | Conflicting classifications of pathogenicity | Erythroleukemia, familial, susceptibility to |
| RS755855285 | Health Risk | Conflicting classifications of pathogenicity | Erythroleukemia, familial, susceptibility to |
| RS1057519169 | Health Risk | Likely pathogenic | — |
| RS141230043 | Health Risk | Likely pathogenic | Lethal congenital contracture syndrome 2, Lethal congenital contracture syndrome 2 |
| RS1565859132 | Health Risk | Likely pathogenic | Lethal congenital contracture syndrome 2, Lethal congenital contracture syndrome 2 |
| RS2136818517 | Health Risk | Likely pathogenic | Visceral neuropathy, familial, 1 |
| RS2136822199 | Health Risk | Likely pathogenic | Visceral neuropathy, familial, 1 |
| RS2540758459 | Health Risk | Likely pathogenic | ERBB3-related disorder, ERBB3-related disorder |
| RS762129530 | Health Risk | Likely pathogenic | Lethal congenital contracture syndrome 2, Lethal congenital contracture syndrome 2 |
| RS771935902 | Health Risk | Likely pathogenic | ERBB3-related disorder, ERBB3-related disorder |
| RS1057519893 | Health Risk | Pathogenic | Malignant tumor of urinary bladder, Neoplasm, Malignant tumor of urinary bladder |
| RS146486757 | Health Risk | Pathogenic | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS1869082532 | Health Risk | Pathogenic | Visceral neuropathy, familial, 1 |
| RS2136815265 | Health Risk | Pathogenic | Visceral neuropathy, familial, 1 |
| RS2136822757 | Health Risk | Pathogenic | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS2540742315 | Health Risk | Pathogenic | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS766102716 | Health Risk | Pathogenic | Visceral neuropathy, familial, 1 |