ATP7B (Gene)

Synonyms:ATP7B, ATPase copper transporting beta, ENTREZ:540, HGNC:870, MIM:606882, NM_000053, NM_001005918, NM_001243182, NM_001330578, NM_001330579, NP_000044, NP_001005918, NP_001230111, NP_001317507, NP_001317508, PWD, WC1, WD, WND, XM_005266423, XM_005266424, XM_005266430, XM_005266431, XM_006719837, XM_011535117, XM_017020627, XP_005266480, XP_005266481, XP_005266487, XP_005266488, XP_006719900, XP_011533419, XP_016876116, XR_941604
Omim:OMIM:606882
Id:ENSG00000123191
Hgnc:HGNC:870
Entrez:540
Description: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-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]

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Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View ATP7B's neighborhood in the knowledge graph.

Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with ATP7B.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using ATP7B.

Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for ATP7B.

Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with ATP7B.

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