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SLC27A2 solute carrier family 27 member 2 [ Homo sapiens (human) ]

Gene ID: 11001, updated on 22-Aug-2020

Summary

Official Symbol
SLC27A2provided by HGNC
Official Full Name
solute carrier family 27 member 2provided by HGNC
Primary source
HGNC:HGNC:10996
See related
Ensembl:ENSG00000140284 MIM:603247
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VLCS; FATP2; VLACS; ACSVL1; FACVL1; hFACVL1; HsT17226
Summary
The protein encoded by this gene is an isozyme of long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme activates long-chain, branched-chain and very-long-chain fatty acids containing 22 or more carbons to their CoA derivatives. It is expressed primarily in liver and kidney, and is present in both endoplasmic reticulum and peroxisomes, but not in mitochondria. Its decreased peroxisomal enzyme activity is in part responsible for the biochemical pathology in X-linked adrenoleukodystrophy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
Expression
Biased expression in liver (RPKM 63.2), kidney (RPKM 62.8) and 5 other tissues See more
Orthologs

Genomic context

See SLC27A2 in Genome Data Viewer
Location:
15q21.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (50182196..50236385)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (50474393..50528589)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATPase phospholipid transporting 8B4 (putative) Neighboring gene Sharpr-MPRA regulatory region 771 Neighboring gene ATP8B4 intron CAGE-defined high expression enhancer Neighboring gene RNA, 7SL, cytoplasmic 494, pseudogene Neighboring gene histidine decarboxylase Neighboring gene GA binding protein transcription factor subunit beta 1 Neighboring gene RNA, U6 small nuclear 94, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
acyl-CoA ligase activity IEA
Inferred from Electronic Annotation
more info
 
arachidonate-CoA ligase activity IEA
Inferred from Electronic Annotation
more info
 
cholate-CoA ligase activity IEA
Inferred from Electronic Annotation
more info
 
decanoate-CoA ligase activity IEA
Inferred from Electronic Annotation
more info
 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
fatty acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
long-chain fatty acid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
long-chain fatty acid transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
long-chain fatty acid-CoA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
long-chain fatty acid-CoA ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
long-chain fatty acid-CoA ligase activity TAS
Traceable Author Statement
more info
 
phytanate-CoA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phytanate-CoA ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
phytanate-CoA ligase activity TAS
Traceable Author Statement
more info
 
pristanate-CoA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pristanate-CoA ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
pristanate-CoA ligase activity TAS
Traceable Author Statement
more info
 
very long-chain fatty acid-CoA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
very long-chain fatty acid-CoA ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
bile acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bile acid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
bile acid biosynthetic process TAS
Traceable Author Statement
more info
 
fatty acid alpha-oxidation IDA
Inferred from Direct Assay
more info
PubMed 
fatty acid alpha-oxidation TAS
Traceable Author Statement
more info
 
fatty acid beta-oxidation IDA
Inferred from Direct Assay
more info
PubMed 
long-chain fatty acid import IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
long-chain fatty acid import IDA
Inferred from Direct Assay
more info
PubMed 
long-chain fatty acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
methyl-branched fatty acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
protein targeting to peroxisome TAS
Traceable Author Statement
more info
 
very long-chain fatty acid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum lumen IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum lumen IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
integral component of endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of peroxisomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of peroxisomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
peroxisomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
peroxisomal membrane TAS
Traceable Author Statement
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
specific granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
very long-chain acyl-CoA synthetase
Names
FATP-2
THCA-CoA ligase
arachidonate--CoA ligase
fatty acid transport protein 2
fatty-acid-coenzyme A ligase, very long-chain 1
long-chain-fatty-acid--CoA ligase
phytanate--CoA ligase
solute carrier family 27 (fatty acid transporter), member 2
very long-chain fatty-acid-coenzyme A ligase 1
very long-chain-fatty-acid-CoA ligase
NP_001153101.1
NP_003636.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001159629.2NP_001153101.1  very long-chain acyl-CoA synthetase isoform 2

    See identical proteins and their annotated locations for NP_001153101.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is lacking an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) missing an internal protein segment compared to isoform 1.
    Source sequence(s)
    AK290262, BC057770, BM980042
    Consensus CDS
    CCDS53943.1
    UniProtKB/Swiss-Prot
    O14975
    Related
    ENSP00000370289.4, ENST00000380902.8
    Conserved Domains (2) summary
    cl17068
    Location:76557
    AFD_class_I; Adenylate forming domain, Class I superfamily
    cl27678
    Location:4798
    AMP-binding; AMP-binding enzyme
  2. NM_003645.4NP_003636.2  very long-chain acyl-CoA synthetase isoform 1

    See identical proteins and their annotated locations for NP_003636.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK223145, AK290262
    Consensus CDS
    CCDS10133.1
    UniProtKB/Swiss-Prot
    O14975
    Related
    ENSP00000267842.5, ENST00000267842.10
    Conserved Domains (2) summary
    cd05938
    Location:76610
    hsFATP2a_ACSVL_like; Fatty acid transport proteins (FATP) including hsFATP2, hsFATP5, and hsFATP6, and similar proteins
    PRK08279
    Location:30620
    PRK08279; long-chain-acyl-CoA synthetase; Validated

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    50182196..50236385
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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