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FAR2 fatty acyl-CoA reductase 2 [ Homo sapiens (human) ]

Gene ID: 55711, updated on 22-Aug-2020

Summary

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Official Symbol
FAR2provided by HGNC
Official Full Name
fatty acyl-CoA reductase 2provided by HGNC
Primary source
HGNC:HGNC:25531
See related
Ensembl:ENSG00000064763 MIM:616156
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
MLSTD1; SDR10E2; HEL-S-81
Summary
This gene belongs to the short chain dehydrogenase/reductase superfamily. It encodes a reductase enzyme involved in the first step of wax biosynthesis wherein fatty acids are converted to fatty alcohols. The encoded peroxisomal protein utilizes saturated fatty acids of 16 or 18 carbons as preferred substrates. Alternatively spliced transcript variants have been observed for this gene. Related pseudogenes have been identified on chromosomes 2, 14 and 22. [provided by RefSeq, Nov 2012]
Expression
Broad expression in colon (RPKM 8.7), small intestine (RPKM 5.0) and 22 other tissues See more
Orthologs
mouse all

Genomic context

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See FAR2 in Genome Data Viewer
Location:
12p11.22
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (29149101..29335617)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (29301936..29488549)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369711 Neighboring gene uncharacterized LOC101928735 Neighboring gene uncharacterized LOC100506606 Neighboring gene ERGIC and golgi 2 Neighboring gene OVCH1 antisense RNA 1 Neighboring gene ovochymase 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. FAR2 is associated with kidney disease in mice and humans. Backer G, et al. Physiol Genomics, 2018 Aug 1. PMID 29652635, Free PMC Article
  2. Topogenesis and homeostasis of fatty acyl-CoA reductase 1. Honsho M, et al. J Biol Chem, 2013 Nov 29. PMID 24108123, Free PMC Article
  3. Mammalian wax biosynthesis. I. Identification of two fatty acyl-Coenzyme A reductases with different substrate specificities and tissue distributions. Cheng JB, et al. J Biol Chem, 2004 Sep 3. PMID 15220348, Free PMC Article
  4. Mammalian wax biosynthesis. II. Expression cloning of wax synthase cDNAs encoding a member of the acyltransferase enzyme family. Cheng JB, et al. J Biol Chem, 2004 Sep 3. PMID 15220349, Free PMC Article
  5. Biochemistry of mammalian peroxisomes revisited. Wanders RJ, et al. Annu Rev Biochem, 2006. PMID 16756494

See all (16) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Results indicate fatty acyl CoA reductase 2 FAR2's role in the development of mesangial matrix expansion and chronic kidney disease.
    Title: FAR2 is associated with kidney disease in mice and humans.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  3. wax monoester synthesis in mammals involves a two step biosynthetic pathway catalyzed by fatty acyl-CoA reductase and wax synthase enzymes
    Title: Mammalian wax biosynthesis. II. Expression cloning of wax synthase cDNAs encoding a member of the acyltransferase enzyme family.
  4. fatty alcohol synthesis in mammals is accomplished by two fatty acyl-CoA reductase isozymes that are expressed at high levels in tissues known to synthesize wax monoesters and ether lipids
    Title: Mammalian wax biosynthesis. I. Identification of two fatty acyl-Coenzyme A reductases with different substrate specificities and tissue distributions.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
New gene functions in megakaryopoiesis and platelet formation.
GeneReviews: Not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10462

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alcohol-forming fatty acyl-CoA reductase activity IEA
Inferred from Electronic Annotation
more info
  
fatty-acyl-CoA reductase (alcohol-forming) activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
fatty-acyl-CoA reductase (alcohol-forming) activity IDA
Inferred from Direct Assay
more info
 PubMed 
oxidoreductase activity TAS
Traceable Author Statement
more info
  
Process Evidence Code Pubs
lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
long-chain fatty-acyl-CoA metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
long-chain fatty-acyl-CoA metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
  
wax biosynthetic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
integral component of peroxisomal membrane IDA
Inferred from Direct Assay
more info
 PubMed 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
peroxisomal matrix TAS
Traceable Author Statement
more info
  
peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
peroxisome ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
fatty acyl-CoA reductase 2
Names
epididymis secretory protein Li 81
male sterility domain-containing protein 1
short chain dehydrogenase/reductase family 10E, member 2
NP_001258712.1
NP_001258713.1
NP_060569.3
XP_011519049.1
XP_011519050.1
XP_016875113.1
XP_016875114.1

NCBI Reference Sequences (RefSeq)

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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_001271783.2 → NP_001258712.1  fatty acyl-CoA reductase 2 isoform 1

    See identical proteins and their annotated locations for NP_001258712.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC009318, AK001927, AK314670, AL136843, CB217408
    Consensus CDS
    CCDS8717.1
    UniProtKB/Swiss-Prot
    Q96K12
    UniProtKB/TrEMBL
    A0A024RAW7, B2RBI0, Q9NUX8
    Related
    ENSP00000443291.2, ENST00000536681.8
    Conserved Domains (2) summary
    cd05236
    Location:11 → 315
    FAR-N_SDR_e; fatty acyl CoA reductases (FARs), extended (e) SDRs
    pfam03015
    Location:357 → 447
    Sterile; Male sterility protein

  2. NM_001271784.2 → NP_001258713.1  fatty acyl-CoA reductase 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon in the 5' coding region and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC009318, AK001927, AK129857, CB217408, DA848036
    Consensus CDS
    CCDS61084.1
    UniProtKB/TrEMBL
    Q9NUX8
    Related
    ENSP00000449349.1, ENST00000547116.5
    Conserved Domains (2) summary
    cd05236
    Location:2 → 218
    FAR-N_SDR_e; fatty acyl CoA reductases (FARs), extended (e) SDRs
    pfam03015
    Location:260 → 350
    Sterile; Male sterility protein

  3. NM_018099.5 → NP_060569.3  fatty acyl-CoA reductase 2 isoform 1

    See identical proteins and their annotated locations for NP_060569.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC009318, AK001927, AK314670, BC022267, CB217408, DA848036
    Consensus CDS
    CCDS8717.1
    UniProtKB/Swiss-Prot
    Q96K12
    UniProtKB/TrEMBL
    A0A024RAW7, B2RBI0, Q9NUX8
    Related
    ENSP00000182377.4, ENST00000182377.8
    Conserved Domains (2) summary
    cd05236
    Location:11 → 315
    FAR-N_SDR_e; fatty acyl CoA reductases (FARs), extended (e) SDRs
    pfam03015
    Location:357 → 447
    Sterile; Male sterility protein

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_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    29149101..29335617
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019624.2 → XP_016875113.1  fatty acyl-CoA reductase 2 isoform X3

  2. XM_017019625.2 → XP_016875114.1  fatty acyl-CoA reductase 2 isoform X4

  3. XM_011520748.3 → XP_011519050.1  fatty acyl-CoA reductase 2 isoform X2

    Conserved Domains (3) summary
    cd05236
    Location:31 → 335
    FAR-N_SDR_e; fatty acyl CoA reductases (FARs), extended (e) SDRs
    PLN02996
    Location:22 → 467
    PLN02996; fatty acyl-CoA reductase
    pfam03015
    Location:377 → 467
    Sterile; Male sterility protein

  4. XM_011520747.2 → XP_011519049.1  fatty acyl-CoA reductase 2 isoform X1

    Conserved Domains (3) summary
    cd05236
    Location:31 → 335
    FAR-N_SDR_e; fatty acyl CoA reductases (FARs), extended (e) SDRs
    PLN02996
    Location:22 → 467
    PLN02996; fatty acyl-CoA reductase
    pfam03015
    Location:377 → 467
    Sterile; Male sterility protein
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96K12.1 GenPept UniProtKB/Swiss-Prot:Q96K12

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