UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:FATP6
HGNC Symbol:SLC27A6
HGNC Description:solute carrier family 27 (fatty acid transporter), member 6
HGNC ID:11000
Superfamily:SLC
Chromosome:Chr.5(+): 128300951-128369335 GRCh37
Location:5q23.3
OMIM:604196
OMIM Phenotype:None
Accessions:NM_014031
Nucleotide RefSeq:NM_001017372
Protein RefSeq:NP_001017372
Entrez:28965
Ensembl:ENSG00000113396
Isoforms:7
Evidence:Substrate In Vitro Evidence: 1. Transient and stable transfection of FATP6 in HEK293 cells enhanced uptake of long chain fatty acids. Gimeno, RE et al. JBC 2003 My 2, 278(18):16039-44 PMID 12556534. Tissue Distribution Evidence: 1. FATP6 is principally expressed in the heart and was localized to cardiac myocytes by ISH. Immunofluorescence studies of FATP6 in monkey and murine hearts revealed that the protein is exclusively located on the sarcolemma (colocalizes with CD36). FATP6 is probably involved in heart long chain fatty acid uptake, and it may play a role in the pathogenesis of lipid-related cardiac disorders. Gimeno, RE et al. JBC 2003 My 2, 278(18):16039-44 PMID 12556534.
Tissues:cardiac myocytes
Type:protein-coding
Sets:V
PharmGKB ID:PA35874
HPRD ID:09173
Substrates:very long chain fatty acids
Trivial Names:FATP6, ACSVL2, FACVL2, VLCS-H1
Transcripts:NM_001017372.1 [Chr.5(+): 128301213-128369335 GRCh37]
NM_014031.3 [Chr.5(+): 128301210-128369335 GRCh37]
XM_005271971.1 [Chr.5(+): 128300951-128369335 GRCh37]
XM_005271970.1 [Chr.5(+): 128301180-128369335 GRCh37]
XM_005271968.1 [Chr.5(+): 128301180-128369335 GRCh37]
XM_005271969.1 [Chr.5(+): 128301180-128369335 GRCh37]
XM_005271967.1 [Chr.5(+): 128301221-128369335 GRCh37]
ENST00000262462 [Chr.5(+): 128300821-128369324 GRCh37]
ENST00000395266 [Chr.5(+): 128301210-128369335 GRCh37]
ENST00000506176 [Chr.5(+): 128301221-128368975 GRCh37]
ENST00000508645 [Chr.5(+): 127873706-128351637 GRCh37]
Annotation History:View Events (44)

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 SLC27A6.

Variant Data

View all PMT variants for SLC27A6 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: TOPO2 image is not available.