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

    Gene ID: 55711, updated on 3-Nov-2024

    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; AllianceGenome:HGNC:25531
    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
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    Genomic context

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    See FAR2 in Genome Data Viewer
    Location:
    12p11.22
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (29149278..29335616)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (29021810..29208149)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (29302211..29488549)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928735 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:29194325-29195524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6156 Neighboring gene uncharacterized LOC124902908 Neighboring gene NANOG hESC enhancer GRCh37_chr12:29298636-29299137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4319 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:29339379-29339880 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:29381828-29382473 Neighboring gene uncharacterized LOC100506606 Neighboring gene ERGIC and golgi 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6157 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 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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    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

    EBI GWAS Catalog

    Description
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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
    enables alcohol-forming long-chain fatty acyl-CoA reductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables alcohol-forming very long-chain fatty acyl-CoA reductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables alcohol-forming very long-chain fatty acyl-CoA reductase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables oxidoreductase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in long-chain fatty-acyl-CoA metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in long-chain fatty-acyl-CoA metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in wax biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in peroxisomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in peroxisomal membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in peroxisome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in 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_054228503.1
    XP_054228504.1

    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
      F8VV73, Q96K12, Q9H0D5, Q9NVW8
      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
      F8VV73, Q96K12, Q9H0D5, Q9NVW8
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      29149278..29335616
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520748.4 → XP_011519050.1  fatty acyl-CoA reductase 2 isoform X2

      UniProtKB/TrEMBL
      H0YHP1
      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

    2. XM_011520747.3 → XP_011519049.1  fatty acyl-CoA reductase 2 isoform X1

      UniProtKB/TrEMBL
      B2RBI0, Q9NUX8
      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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      29021810..29208149
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372529.1 → XP_054228504.1  fatty acyl-CoA reductase 2 isoform X2

    2. XM_054372528.1 → XP_054228503.1  fatty acyl-CoA reductase 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96K12.1 GenPept UniProtKB/Swiss-Prot:Q96K12

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