|HGNC Description:||solute carrier family 27 (fatty acid transporter), member 2|
|Chromosome:||Chr.15(+): 50474393-50528589 GRCh37|
|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)|
|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.
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.
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.