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
RS1957038706 Health Risk Pathogenic Wilson disease, Wilson disease
RS1957043255 Health Risk Pathogenic Wilson disease, Wilson disease
RS1957048711 Health Risk Pathogenic Wilson disease, Wilson disease
RS1957048901 Health Risk Pathogenic Wilson disease, Wilson disease
RS1957051870 Health Risk Pathogenic Wilson disease, Wilson disease
RS1957054299 Health Risk Pathogenic Wilson disease, Wilson disease
RS1957160342 Health Risk Pathogenic Wilson disease, Wilson disease
RS1957518966 Health Risk Pathogenic Wilson disease, Wilson disease
RS1957519682 Health Risk Pathogenic Wilson disease, Wilson disease
RS1957654399 Health Risk Pathogenic Wilson disease, Wilson disease
RS1957660093 Health Risk Pathogenic Wilson disease, Wilson disease
RS1957660459 Health Risk Pathogenic Wilson disease, Wilson disease
RS1957668488 Health Risk Pathogenic Wilson disease, Wilson disease
RS1957877283 Health Risk Pathogenic Wilson disease, Wilson disease
RS1957900892 Health Risk Pathogenic Wilson disease, Wilson disease
RS1957901268 Health Risk Pathogenic Wilson disease, Wilson disease
RS1957904411 Health Risk Pathogenic Wilson disease, Wilson disease
RS1957924589 Health Risk Pathogenic Wilson disease, Wilson disease
RS1958433515 Health Risk Pathogenic Wilson disease, Wilson disease
RS1958499640 Health Risk Pathogenic Wilson disease, Wilson disease, Wilson disease
RS1958506321 Health Risk Pathogenic Wilson disease, Wilson disease
RS1958765122 Health Risk Pathogenic Wilson disease, Wilson disease
RS2138386032 Health Risk Pathogenic Wilson disease, Wilson disease
RS2138570625 Health Risk Pathogenic Wilson disease, Wilson disease
RS2138571104 Health Risk Pathogenic Wilson disease, Wilson disease
RS2138574560 Health Risk Pathogenic Wilson disease, Wilson disease
RS2138576515 Health Risk Pathogenic Wilson disease, Wilson disease
RS2138580919 Health Risk Pathogenic Wilson disease, Wilson disease
RS2138661836 Health Risk Pathogenic Wilson disease, Wilson disease
RS2138851041 Health Risk Pathogenic Wilson disease, Wilson disease
RS2138857747 Health Risk Pathogenic Wilson disease, Wilson disease
RS2138859417 Health Risk Pathogenic Wilson disease, Wilson disease
RS2138948876 Health Risk Pathogenic Wilson disease, Wilson disease
RS2138953252 Health Risk Pathogenic Wilson disease, Wilson disease
RS2139062378 Health Risk Pathogenic Wilson disease, Wilson disease
RS2139193234 Health Risk Pathogenic Wilson disease, Wilson disease
RS2139207205 Health Risk Pathogenic Wilson disease, Wilson disease
RS2139208029 Health Risk Pathogenic Wilson disease, Wilson disease
RS2139212032 Health Risk Pathogenic Wilson disease, Wilson disease
RS2139669739 Health Risk Pathogenic Wilson disease, Wilson disease
RS2139775159 Health Risk Pathogenic Wilson disease, Wilson disease
RS2139883798 Health Risk Pathogenic Wilson disease, Wilson disease
RS2139960322 Health Risk Pathogenic Wilson disease, Wilson disease
RS2139975409 Health Risk Pathogenic Wilson disease, Wilson disease
RS2140066737 Health Risk Pathogenic Wilson disease, Wilson disease
RS2140069931 Health Risk Pathogenic Wilson disease, Wilson disease
RS2140072323 Health Risk Pathogenic Wilson disease, Wilson disease
RS2140073366 Health Risk Pathogenic Wilson disease, Wilson disease
RS2140073872 Health Risk Pathogenic Wilson disease, Wilson disease
RS2140080841 Health Risk Pathogenic Wilson disease, Wilson disease
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