UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:CTR2
HGNC Symbol:SLC31A2
HGNC Description:solute carrier family 31 (copper transporter), member 2
HGNC ID:11017
Superfamily:SLC
Chromosome:Chr.9(+): 115913238-115926422 GRCh37
Location:9q32
OMIM:603088
OMIM Phenotype:None
Accessions:NM_001860
Nucleotide RefSeq:NM_001860
Protein RefSeq:NP_001851
Entrez:1318
Ensembl:ENSG00000136867
Isoforms:1
Evidence:Substrate In Vitro Evidence: It has not been conclusively shown that hCTR2 transports copper. It was identified by homology to hCTR1 and a yeast copper transporter (yCTR2). It has been speculated that hCTR2 is likely to be an intracellular copper transporter because the yeast ortholog was localized to the vacuole. Zhou and Gitschier 1997, PNAS, Vol 94, p.7481-86 Portney et al 2001, Mol Genet Genome, Vol 265, p.873-882 Petris 2003, Pflugers Arch Tissue Distribution Evidence: Present in all tissues tested by Northern Blot, highest expression in placenta Zhou and Gitschier 1997, PNAS, Vol 94, p.7481-86
Tissues:ubiquitous mRNA
Type:protein-coding
Sets:V
PharmGKB ID:PA35886
HPRD ID:04365
Substrates:unknown
Trivial Names:CTR2, COPT2, hCTR2
Transcripts:NM_001860.2 [Chr.9(+): 115913238-115926422 GRCh37]
ENST00000259392 [Chr.9(+): 115913222-115926417 GRCh37]
ENST00000374220 [Chr.9(+): 115913310-115926417 GRCh37]
ENST00000490809 [Chr.9(+): 115913256-115914596 GRCh37]
Annotation History:View Events (2)

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 SLC31A2.

Variant Data

View all PMT variants for SLC31A2 on UCSC Genome Browser
Showing SNP features for transcript: NM_001860  
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: TOPO2 image is not available.