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Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

ATP7B

Gene Alias

PWD, WC1, WD, WND

Gene Description

ATPase, Cu++ transporting, beta polypeptide

Omim ID

Gene Ontology

Gene Summary

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 functions as a monomer, exporting 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 (WD). [provided by RefSeq

Other Designations

ATPase, Cu(2+)- transporting, beta polypeptide|OTTHUMP00000040880|Wilson disease-associated protein|copper pump 2|copper-transporting ATPase 2