ATP7B Chromosome 13

ATPase copper transporting beta
892 variants 892 Health Risk

Upload your DNA to see your personal genotypes for variants in ATP7B.

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
RS753330854 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS753758073 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease, Wilson disease
RS754086671 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS755202606 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS755476114 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS755817220 Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases, Wilson disease
RS756237962 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS756718353 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS756751716 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS757549770 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS757716093 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS757991922 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS758690020 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS758773114 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS759359836 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS759416152 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS759551693 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS761183334 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS761888880 Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases, Wilson disease
RS762031690 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS762097856 Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases, Wilson disease
RS762859925 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS763051801 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease, Wilson disease
RS764603742 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS765377141 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS765668065 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS766907687 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS767464491 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease, Wilson disease
RS767721448 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS768833241 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS769655497 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS769864947 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS769927137 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS770175227 Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases, Wilson disease
RS770273498 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS770362811 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS770428835 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS770640457 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS770782111 Health Risk Conflicting classifications of pathogenicity Wilson disease, ATP7B-related disorder, Wilson disease
RS770903362 Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases, ATP7B-related disorder
RS771789585 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS772616533 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS772843652 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS773447981 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS773809011 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS774028495 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS774844173 Health Risk Conflicting classifications of pathogenicity Wilson disease, ATP7B-related disorder, Wilson disease
RS775541743 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS775553302 Health Risk Conflicting classifications of pathogenicity Wilson disease, ATP7B-related disorder, Wilson disease
RS776300396 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
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