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
RS2547716462 Health Risk Pathogenic ATP7B-related disorder, ATP7B-related disorder
RS2547716524 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547716554 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547724565 Health Risk Pathogenic —
RS2547725567 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547725887 Health Risk Pathogenic —
RS2547734539 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547752366 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547752969 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547777444 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547778015 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547778823 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547792647 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547793038 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547793319 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547793496 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547793888 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547794910 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547813787 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547814405 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547816098 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547816289 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547816464 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547817654 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547818839 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547819511 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547820845 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547822680 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547824218 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547825080 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547825208 Health Risk Pathogenic Wilson disease, Wilson disease
RS2547825885 Health Risk Pathogenic Wilson disease, Wilson disease
RS28942074 Health Risk Pathogenic Wilson disease, Inborn genetic diseases, ATP7B-related disorder
RS376355660 Health Risk Pathogenic Wilson disease, Wilson disease
RS587783306 Health Risk Pathogenic Wilson disease, Wilson disease
RS72552255 Health Risk Pathogenic Wilson disease, Inborn genetic diseases, ATP7B-related disorder
RS746637821 Health Risk Pathogenic Wilson disease, Wilson disease
RS750078271 Health Risk Pathogenic Wilson disease, Wilson disease
RS750154146 Health Risk Pathogenic Wilson disease, Wilson disease
RS751078884 Health Risk Pathogenic Wilson disease, Wilson disease, Wilson disease
RS752850609 Health Risk Pathogenic Wilson disease, Wilson disease
RS753236073 Health Risk Pathogenic Wilson disease, Wilson disease
RS753250853 Health Risk Pathogenic Wilson disease, ATP7B-related disorder, Inborn genetic diseases
RS753962912 Health Risk Pathogenic Wilson disease, Spastic ataxia, Inborn genetic diseases
RS755584106 Health Risk Pathogenic Wilson disease, Wilson disease
RS755709270 Health Risk Pathogenic Wilson disease, Wilson disease
RS756929892 Health Risk Pathogenic Wilson disease, Wilson disease
RS761084829 Health Risk Pathogenic Wilson disease, Wilson disease
RS76151636 Health Risk Pathogenic Wilson disease, Inborn genetic diseases, Wilson disease
RS764131178 Health Risk Pathogenic Wilson disease, Inborn genetic diseases, Wilson disease
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