UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:None
HGNC Symbol:SLC45A2
HGNC Description:solute carrier family 45, member 2
HGNC ID:16472
Superfamily:SLC
Chromosome:Chr.5(-): 33944721-33984780 GRCh37
Location:5p13.2
OMIM:606202
OMIM Phenotype:None
Accessions:None
Nucleotide RefSeq:NM_016180
Protein RefSeq:NP_057264
Entrez:51151
Ensembl:ENSG00000164175
Isoforms:3
Evidence:None
Tissues:None
Type:protein-coding
Sets:None
PharmGKB ID:
HPRD ID:05865
Substrates:None
Trivial Names:1A1, AIM1, MATP, OCA4, SHEP5
Transcripts:NM_001012509.2 [Chr.5(-): 33945971-33984780 GRCh37]
NM_016180.3 [Chr.5(-): 33944721-33984780 GRCh37]
XM_005248311.1 [Chr.5(-): 33951510-33984752 GRCh37]
ENST00000296589 [Chr.5(-): 33944721-33984835 GRCh37]
ENST00000342059 [Chr.5(-): 33944724-33984780 GRCh37]
ENST00000345083 [Chr.5(-): 33951594-33984780 GRCh37]
ENST00000382102 [Chr.5(-): 33945971-33984746 GRCh37]
ENST00000505056 [Chr.5(-): 33963747-33984667 GRCh37]
ENST00000509381 [Chr.5(-): 33951510-33984749 GRCh37]
ENST00000510600 [Chr.5(-): 33947373-33984342 GRCh37]
Annotation History:View Events (12)

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 SLC45A2.

Variant Data

View all PMT variants for SLC45A2 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.