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
RS137853281 Health Risk Pathogenic Wilson disease, Inborn genetic diseases, Wilson disease
RS137853283 Health Risk Pathogenic Wilson disease, Inborn genetic diseases, Wilson disease
RS137853284 Health Risk Pathogenic Wilson disease, Wilson disease, Inborn genetic diseases
RS1397083296 Health Risk Pathogenic Wilson disease, Wilson disease
RS142187604 Health Risk Pathogenic Wilson disease, Wilson disease, Wilson disease
RS1431633756 Health Risk Pathogenic Wilson disease, Wilson disease
RS1445951068 Health Risk Pathogenic Wilson disease, Wilson disease
RS1448968475 Health Risk Pathogenic Wilson disease, Wilson disease
RS1449610384 Health Risk Pathogenic Wilson disease, Wilson disease
RS1474837260 Health Risk Pathogenic Wilson disease, Wilson disease
RS1484840087 Health Risk Pathogenic Wilson disease, Wilson disease
RS1555283564 Health Risk Pathogenic Wilson disease, Wilson disease
RS1555283916 Health Risk Pathogenic Wilson disease, Wilson disease
RS1555285311 Health Risk Pathogenic Wilson disease, Wilson disease
RS1555285380 Health Risk Pathogenic Wilson disease, Wilson disease
RS1555285830 Health Risk Pathogenic Wilson disease, Wilson disease
RS1555286628 Health Risk Pathogenic Wilson disease, Wilson disease
RS1555288808 Health Risk Pathogenic Wilson disease, Wilson disease
RS1555290810 Health Risk Pathogenic Wilson disease, Wilson disease
RS1555291207 Health Risk Pathogenic Wilson disease, Wilson disease
RS1555291784 Health Risk Pathogenic Wilson disease, Wilson disease
RS1555291848 Health Risk Pathogenic Wilson disease, Wilson disease
RS1555291870 Health Risk Pathogenic Wilson disease, Wilson disease, Wilson disease
RS1555293357 Health Risk Pathogenic Wilson disease, Wilson disease
RS1555296939 Health Risk Pathogenic Wilson disease, Wilson disease
RS1566444909 Health Risk Pathogenic Wilson disease, Wilson disease
RS1566461818 Health Risk Pathogenic Wilson disease, Wilson disease
RS1566498495 Health Risk Pathogenic Wilson disease, Wilson disease, Wilson disease
RS1566532164 Health Risk Pathogenic Wilson disease, Wilson disease
RS1566559605 Health Risk Pathogenic Wilson disease, Wilson disease
RS1566560096 Health Risk Pathogenic Wilson disease, Wilson disease
RS1566598496 Health Risk Pathogenic Wilson disease, Wilson disease
RS1593672840 Health Risk Pathogenic Wilson disease, Wilson disease
RS1593722956 Health Risk Pathogenic Wilson disease, Wilson disease
RS1593726648 Health Risk Pathogenic Wilson disease, Wilson disease
RS1593787510 Health Risk Pathogenic Wilson disease, Wilson disease
RS1681704644 Health Risk Pathogenic Wilson disease, Wilson disease
RS191312027 Health Risk Pathogenic Wilson disease, Inborn genetic diseases, ATP7B-related disorder
RS193922103 Health Risk Pathogenic Wilson disease, Inborn genetic diseases, Wilson disease
RS193922109 Health Risk Pathogenic Wilson disease, Inborn genetic diseases, ATP7B-related disorder
RS193922111 Health Risk Pathogenic Wilson disease, Wilson disease
RS1951467428 Health Risk Pathogenic Wilson disease, Wilson disease
RS1951680623 Health Risk Pathogenic Wilson disease, Wilson disease
RS1951795080 Health Risk Pathogenic Wilson disease, Inborn genetic diseases, Wilson disease
RS1951985366 Health Risk Pathogenic Wilson disease, Wilson disease
RS1951990899 Health Risk Pathogenic Wilson disease, Wilson disease
RS1952028475 Health Risk Pathogenic Wilson disease, Wilson disease
RS1952043099 Health Risk Pathogenic Wilson disease, Wilson disease
RS1956866547 Health Risk Pathogenic Wilson disease, Wilson disease
RS1957027467 Health Risk Pathogenic Wilson disease, Wilson disease
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