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
RS2140091906 Health Risk Pathogenic Wilson disease, Wilson disease
RS2140096468 Health Risk Pathogenic Wilson disease, Wilson disease
RS2140096745 Health Risk Pathogenic Wilson disease, Wilson disease
RS2140096946 Health Risk Pathogenic Wilson disease, Wilson disease
RS2140096995 Health Risk Pathogenic Wilson disease, Wilson disease
RS2140100738 Health Risk Pathogenic Wilson disease, Wilson disease
RS2140103116 Health Risk Pathogenic Wilson disease, Wilson disease
RS2140103906 Health Risk Pathogenic Wilson disease, Wilson disease
RS2140114949 Health Risk Pathogenic Wilson disease, Wilson disease
RS2140117236 Health Risk Pathogenic Wilson disease, Wilson disease
RS2140768125 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547323392 Health Risk Pathogenic Wilson disease, Wilson disease, Wilson disease
RS2547323808 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547539500 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547539694 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547541005 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547541937 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547542207 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547543832 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547550958 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547551611 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547565429 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547569101 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547583314 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547584635 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547611792 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547611952 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547612738 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547613029 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547613268 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547628344 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547628568 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547644949 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547647866 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547665922 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547667199 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547671469 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547673500 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547674050 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547674422 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547674600 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547674633 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547709665 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547709703 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547709728 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547714850 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547715376 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547715622 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547715854 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547716254 Health Risk Pathogenic Wilson disease, Wilson disease
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