UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:ATP7B
HGNC Symbol:ATP7B
HGNC Description:ATPase, Cu++ transporting, beta polypeptide
HGNC ID:870
Superfamily:None
Chromosome:Chr.13(-): 52506805-52586181 GRCh37
Location:13q14.3
OMIM:606882
OMIM Phenotype:Wilson disease
Accessions:U11700
Nucleotide RefSeq:NM_000053
Protein RefSeq:NP_000044
Entrez:540
Ensembl:ENSG00000123191
Isoforms:15
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_000053.3 [Chr.13(-): 52506805-52585630 GRCh37]
NM_001005918.2 [Chr.13(-): 52506805-52585630 GRCh37]
XM_005266430.1 [Chr.13(-): 52506805-52586181 GRCh37]
XM_005266428.1 [Chr.13(-): 52506805-52585692 GRCh37]
NM_001243182.1 [Chr.13(-): 52506805-52585630 GRCh37]
XM_005266431.1 [Chr.13(-): 52506805-52569466 GRCh37]
XM_005266424.1 [Chr.13(-): 52506805-52552960 GRCh37]
XM_005266423.1 [Chr.13(-): 52506805-52551547 GRCh37]
XM_005266434.1 [Chr.13(-): 52506805-52544661 GRCh37]
XM_005266433.1 [Chr.13(-): 52508437-52585692 GRCh37]
XM_005266432.1 [Chr.13(-): 52508437-52585692 GRCh37]
XM_005266427.1 [Chr.13(-): 52508437-52585692 GRCh37]
XM_005266425.1 [Chr.13(-): 52508437-52585692 GRCh37]
XM_005266429.1 [Chr.13(-): 52508437-52585692 GRCh37]
XM_005266426.1 [Chr.13(-): 52508437-52585692 GRCh37]
ENST00000242839 [Chr.13(-): 52506809-52585630 GRCh37]
ENST00000344297 [Chr.13(-): 52506810-52585630 GRCh37]
ENST00000400366 [Chr.13(-): 52506810-52585630 GRCh37]
ENST00000400370 [Chr.13(-): 52508822-52585547 GRCh37]
ENST00000417240 [Chr.13(-): 52508740-52536051 GRCh37]
ENST00000418097 [Chr.13(-): 52508829-52585547 GRCh37]
ENST00000448424 [Chr.13(-): 52508822-52585547 GRCh37]
ENST00000466629 [Chr.13(-): 52518245-52520699 GRCh37]
ENST00000482841 [Chr.13(-): 52515207-52548911 GRCh37]
ENST00000483772 [Chr.13(-): 52538910-52548111 GRCh37]
ENST00000542656 [Chr.13(-): 52532500-52549304 GRCh37]
Annotation History:View Events (113)

GTEx Expression by Gene and Transcript

The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.

Tissues:
Expression values:
No expression data exists for ATP7B.

Variant Data

View all PMT variants for ATP7B on UCSC Genome Browser
Showing SNP features for transcript:   
1000 Genomes  

20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes).
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
Download the SNP table data as a tab-delimited file.

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.