ATP7B Chromosome 13
ATPase copper transporting beta
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What This Gene Does
This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein is a monomer, and functions as a copper-transporting ATPase which exports copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease which is characterized by copper accumulation. [provided by RefSeq, Dec 2019]
Gene Info
Gene Group
ATPase copper transporting
Locus Type
gene with protein product
Location
13q14.3
Ensembl
ENSG00000123191
Associated Conditions (29)
Wilson disease
Inborn genetic diseases
ATP7B-related disorder
See cases
Uterine corpus endometrial carcinoma
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Acute myeloid leukemia
Hepatocellular carcinoma
Familial cancer of breast
Intellectual disability
Wolff type
Epileptic encephalopathy
Malignant tumor of urinary bladder
Neoplasm
Kayser-Fleischer ring
Hand tremor
Developmental and epileptic encephalopathy 93
+9 more conditions
Key Variants
RS1014184765
Conflicting classifications of pathogenicity
Wilson disease, Inborn genetic diseases, Wilson disease
Health Risk
RS1017756733
Conflicting classifications of pathogenicity
Wilson disease, Wilson disease
Health Risk
RS111901413
Conflicting classifications of pathogenicity
Wilson disease, Wilson disease
Health Risk
RS1131691741
Conflicting classifications of pathogenicity
Wilson disease, Inborn genetic diseases, Wilson disease
Health Risk
RS115227204
Conflicting classifications of pathogenicity
Wilson disease, Wilson disease
Health Risk
RS116587608
Conflicting classifications of pathogenicity
Wilson disease, Inborn genetic diseases, ATP7B-related disorder
Health Risk
RS1169959260
Conflicting classifications of pathogenicity
Wilson disease, Wilson disease
Health Risk
RS1173623580
Conflicting classifications of pathogenicity
Health Risk
RS11840224
Conflicting classifications of pathogenicity
Wilson disease, Wilson disease
Health Risk
RS1192728612
Conflicting classifications of pathogenicity
Wilson disease, Wilson disease
Health Risk
RS1202766392
Conflicting classifications of pathogenicity
Health Risk
RS1206016866
Conflicting classifications of pathogenicity
Wilson disease, Wilson disease
Health Risk
All Variants (892)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS751710854 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Breast-ovarian cancer, familial |
| RS751798708 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS753674382 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Inborn genetic diseases, Wilson disease |
| RS755012990 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS755554442 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, ATP7B-related disorder, Wilson disease |
| RS756029120 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS758355520 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease, Wilson disease |
| RS759749626 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Familial cancer of breast, Wilson disease |
| RS760285767 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS760713333 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS761632029 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS762866453 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS764108297 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS765139243 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS768729972 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS769484789 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS770020484 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS770829226 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS771603301 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS772000260 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS775055397 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Abnormality of metabolism/homeostasis, Wilson disease |
| RS776280797 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS777629392 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS778543794 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS778675259 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS778732681 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS778914828 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS779669186 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS779904655 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS780486131 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS781266802 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS786204483 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS786204547 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Inborn genetic diseases, Wilson disease |
| RS786204570 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS786204658 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS797045402 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS886041336 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS886042519 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease, Wilson disease |
| RS886043238 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS886043423 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS911589273 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |
| RS949421614 | Health Risk | Pathogenic/Likely pathogenic | Wilson disease, Wilson disease |