UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:FATP2
HGNC Symbol:SLC27A2
HGNC Description:solute carrier family 27 (fatty acid transporter), member 2
HGNC ID:10996
Superfamily:SLC
Chromosome:Chr.15(+): 50474393-50528589 GRCh37
Location:15q21.2
OMIM:603247
OMIM Phenotype:None
Accessions:NM_003645
Nucleotide RefSeq:NM_003645
Protein RefSeq:NP_003636
Entrez:11001
Ensembl:ENSG00000140284
Isoforms:2
Evidence:Substrate In Vitro Evidence: When expressed in COS-1 cells, hVLCS activated the VLCFA lignoceric acid (C24:0), a long-chain fatty acid (C16:0), and two branched-chain fatty acids, phytanic acid and pristanic acid (Steinberg SJ, Wang SJ, Kim DG, Mihalik SJ, Watkins PA. Human very-long-chain acyl-CoA synthetase: cloning, topography, and relevance to branched-chain fatty acid metabolism. Biochem Biophys Res Commun 257(2): 615-21, 1999). Tissue Distribution Evidence: hVLCS expression was found to be highest in liver and lower in kidney, placenta and pancreas by Northern blot. Subcellular localization studies showed hVLCS to be expressed in peroxisomes and endoplasmic reticulum (Steinberg SJ, Wang SJ, Kim DG, Mihalik SJ, Watkins PA. Human very-long-chain acyl-CoA synthetase: cloning, topography, and relevance to branched-chain fatty acid metabolism. Biochem Biophys Res Commun 257(2): 615-21, 1999).
Tissues:Liver (high); kidney, placenta, pancreas (low)
Type:protein-coding
Sets:V
PharmGKB ID:PA27971
HPRD ID:11935
Substrates:Very long-chain fatty acids, long-chain fatty acids, branched chain fatty acids
Trivial Names:VLCS, FATP2, VLACS, ACSVL1, FACVL1, hFACVL1, HsT17226
Transcripts:NM_003645.3 [Chr.15(+): 50474393-50528589 GRCh37]
NM_001159629.1 [Chr.15(+): 50474393-50528589 GRCh37]
ENST00000267842 [Chr.15(+): 50474393-50528592 GRCh37]
ENST00000380902 [Chr.15(+): 50474430-50528575 GRCh37]
ENST00000544960 [Chr.15(+): 50483198-50528581 GRCh37]
ENST00000559938 [Chr.15(+): 50497550-50518331 GRCh37]

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 SLC27A2.

Variant Data

View all PMT variants for SLC27A2 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.