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    AWAT2 acyl-CoA wax alcohol acyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 158835, updated on 2-Nov-2024

    Summary

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    Official Symbol
    AWAT2provided by HGNC
    Official Full Name
    acyl-CoA wax alcohol acyltransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:23251
    See related
    Ensembl:ENSG00000147160 MIM:300925; AllianceGenome:HGNC:23251
    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
    WS; DC4; ARAT; MFAT; DGAT2L4
    Summary
    This gene encodes an enzyme belonging to the diacylglycerol acyltransferase family. This enzyme produces wax esters by the esterification of long chain (or wax) alcohols with acyl-CoA-derived fatty acids. It functions in lipid metabolism in the skin, mostly in undifferentiated peripheral sebocytes. This enzyme may also have acyl-CoA:retinol acyltransferase activities, where it catalyzes the synthesis of diacylglycerols and retinyl esters. [provided by RefSeq, May 2010]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
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    Genomic context

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    See AWAT2 in Genome Data Viewer
    Location:
    Xq13.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (70040542..70049938, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (68473894..68483288, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (69260392..69269788, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ectodysplasin A Neighboring gene CCR4-NOT transcription complex subunit 7 pseudogene 1 Neighboring gene microRNA 676 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:69306192-69306426 Neighboring gene OTU deubiquitinase 6A Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:69330633-69331832 Neighboring gene MT-CYB pseudogene 31

    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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    Related articles in PubMed

    1. Expression of Acyl-CoA wax-alcohol acyltransferase 2 (AWAT2) by human and rabbit meibomian glands and meibocytes. Rho CR, et al. Ocul Surf, 2022 Jan. PMID 34838721, Free PMC Article
    2. Identification of the 11-cis-specific retinyl-ester synthase in retinal Müller cells as multifunctional O-acyltransferase (MFAT). Kaylor JJ, et al. Proc Natl Acad Sci U S A, 2014 May 20. PMID 24799687, Free PMC Article
    3. A human skin multifunctional O-acyltransferase that catalyzes the synthesis of acylglycerols, waxes, and retinyl esters. Yen CL, et al. J Lipid Res, 2005 Nov. PMID 16106050, Free PMC Article
    4. Allosteric modulation of the substrate specificity of acyl-CoA wax alcohol acyltransferase 2. Arne JM, et al. J Lipid Res, 2017 Apr. PMID 28096191, Free PMC Article
    5. Identification of two novel human acyl-CoA wax alcohol acyltransferases: members of the diacylglycerol acyltransferase 2 (DGAT2) gene superfamily. Turkish AR, et al. J Biol Chem, 2005 Apr 15. PMID 15671038

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expression of Acyl-CoA wax-alcohol acyltransferase 2 (AWAT2) by human and rabbit meibomian glands and meibocytes.
      Title: Expression of Acyl-CoA wax-alcohol acyltransferase 2 (AWAT2) by human and rabbit meibomian glands and meibocytes.
    2. analysis of AWAT1 and AWAT2 substrate specificity and differentiation-specific expression pattern
      Title: Identification of two novel human acyl-CoA wax alcohol acyltransferases: members of the diacylglycerol acyltransferase 2 (DGAT2) gene superfamily.
    3. MFAT is a multifunctional acyltransferase that likely plays an important role in lipid metabolism in human skin.
      Title: A human skin multifunctional O-acyltransferase that catalyzes the synthesis of acylglycerols, waxes, and retinyl esters.
    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

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 2-acylglycerol O-acyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables diacylglycerol O-acyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables long-chain-alcohol O-fatty-acyltransferase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables retinol O-fatty-acyltransferase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables retinol O-fatty-acyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables retinol O-fatty-acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in acylglycerol acyl-chain remodeling TAS
    Traceable Author Statement
    more info
    		  
    involved_in lipid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in monoacylglycerol biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in retinoid metabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in retinol metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in wax biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    acyl-CoA wax alcohol acyltransferase 2
    Names
    11-cis-RE-synthase
    11-cis-specific retinyl-ester synthase
    acyl-CoA retinol O-fatty-acyltransferase
    diacylglycerol O-acyltransferase 2-like protein 4
    diacylglycerol O-acyltransferase candidate 4
    long-chain-alcohol O-fatty-acyltransferase 2
    multifunctional O-acyltransferase
    retinol O-fatty-acyltransferase
    NP_001002254.1
    XP_011529178.1
    XP_054182522.1

    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.

    Genomic

    1. NG_021246.1 RefSeqGene

      Range
      5001..14397
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001002254.1 → NP_001002254.1  acyl-CoA wax alcohol acyltransferase 2

      See identical proteins and their annotated locations for NP_001002254.1

      Status: REVIEWED

      Source sequence(s)
      AY605053, BC063698
      Consensus CDS
      CCDS35320.1
      UniProtKB/Swiss-Prot
      Q6E213, Q6IEE3, Q6P437
      Related
      ENSP00000421172.1, ENST00000276101.7
      Conserved Domains (1) summary
      cl17185
      Location:38 → 332
      LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      70040542..70049938 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530876.3 → XP_011529178.1  acyl-CoA wax alcohol acyltransferase 2 isoform X1

      See identical proteins and their annotated locations for XP_011529178.1

      UniProtKB/Swiss-Prot
      Q6E213, Q6IEE3, Q6P437
      Conserved Domains (1) summary
      cl17185
      Location:38 → 332
      LPLAT; Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      68473894..68483288 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326547.1 → XP_054182522.1  acyl-CoA wax alcohol acyltransferase 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6E213.1 GenPept UniProtKB/Swiss-Prot:Q6E213

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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