Atp7b Gene Search Result

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Genes search result for Homo sapiens
(View Results for all Objects and Ontologies)

3 records found for search term Atp7b

Refine Term:

Assembly:

Chr

Sort By:

Export

RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
731392	ATP7B	ATPase copper transporting beta	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-tr ... (more) ansporting 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]	13	51932669	52012132	Human	1220	symbol , old_gene_name , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
3051021	ATP7BP1	ATPase copper transporting beta pseudogene 1		18	22418830	22419300	Human		symbol , COSMIC , Human Proteome Map	gene, pseudo, INFERRED [RefSeq]
1353842	ATP13A3	ATPase 13A3	ATP13A3 is a member of the P-type ATPase family of proteins that transport a variety of cations across membranes. Other P-type ATPases include ATP7B (MIM 606882) and ATP7A (MIM 300011).[supplied by OMIM, Aug 2008]	3	194402677	194494334	Human	141	description	gene, protein-coding, VALIDATED [RefSeq]