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

Gene ID: 158835, updated on 25-Apr-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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Location:
Xq13.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (70040542..70049938, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (68473894..68483288, complement)
105.20220307 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
  • 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 long-chain-alcohol O-fatty-acyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
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_2023_10

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

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