UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:ATP7A
HGNC Symbol:ATP7A
HGNC Description:ATPase, Cu++ transporting, alpha polypeptide
HGNC ID:869
Superfamily:None
Chromosome:Chr.X(+): 77166194-77305892 GRCh37
Location:Xq21.1
OMIM:300011
OMIM Phenotype:Menkes disease, mild; Occipital horn syndrome; Cutis laxa, neonatal; Menkes disease; Menkes disease, copper-replacement responsive
Accessions:L06133
Nucleotide RefSeq:NM_000052
Protein RefSeq:NP_000043
Entrez:538
Ensembl:ENSG00000165240
Isoforms:9
Evidence:None
Tissues:None
Type:protein-coding
Sets:II
PharmGKB ID:PA72
HPRD ID:02054
Substrates:None
Trivial Names:MK, MNK, DSMAX, SMAX3
Transcripts:NM_000052.5 [Chr.X(+): 77166194-77305892 GRCh37]
XM_005262149.1 [Chr.X(+): 77166194-77305892 GRCh37]
XM_005262150.1 [Chr.X(+): 77166194-77305892 GRCh37]
XM_005262148.1 [Chr.X(+): 77166194-77305892 GRCh37]
XM_005262147.1 [Chr.X(+): 77166218-77305892 GRCh37]
XM_005277811.1 [Chr.X(+): 467959-607657 GRCh37]
XM_005277812.1 [Chr.X(+): 467959-607657 GRCh37]
XM_005277810.1 [Chr.X(+): 467959-607657 GRCh37]
XM_005277809.1 [Chr.X(+): 467983-607657 GRCh37]
ENST00000341514 [Chr.X(+): 77166199-77305892 GRCh37]
ENST00000343533 [Chr.X(+): 77166194-77305892 GRCh37]
ENST00000350425 [Chr.X(+): 77166194-77305892 GRCh37]
Annotation History:View Events (65)

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 ATP7A.

Variant Data

View all PMT variants for ATP7A 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.