UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:ATP7B
HGNC Symbol:ATP7B
HGNC Description:ATPase, Cu++ transporting, beta polypeptide (Wilson disease)
HGNC ID:870
Chromosome:Chr.13(-): 51404806-51483631
Location:13q14.3
OMIM:606882
OMIM Phenotype:Wilson disease
Accessions:U11700
Nucleotide RefSeq:NM_000053
Protein RefSeq:NP_000044
Entrez:540
Isoforms:2
Evidence:None
Tissues:None
Type:protein coding
Sets:II
PharmGKB ID:PA73
HPRD ID:06050
Substrates:None
Trivial Names:WD, PWD, WC1, WND
Transcripts:NM_000053 [Chr.13(-): 51404806-51483631]
NM_001005918 [Chr.13(-): 51404806-51483631]

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.