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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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AWAT2
acyl-CoA wax alcohol acyltransferase 2
Chromosome X · Xq13.1
NCBI Gene: 158835Ensembl: ENSG00000147160.10HGNC: HGNC:23251UniProt: Q6E213
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
monoacylglycerol biosynthetic processlong-chain-alcohol O-fatty-acyltransferase activityretinol O-fatty-acyltransferase activityendoplasmic reticulum membranerheumatoid arthritiskeratosis follicularis spinulosa decalvansautosomal recessive congenital ichthyosis 11Ectodermal dysplasia - blindness
✦AI Summary

AWAT2 (acyl-CoA wax alcohol acyltransferase 2) is an integral membrane enzyme that catalyzes the formation of ester bonds between fatty alcohols and medium-chain acyl-CoAs (C12-C16) to synthesize wax monoesters 12. Beyond wax synthesis, AWAT2 possesses acyl-CoA retinol acyltransferase activity, preferentially esterifying 11-cis-retinol—a chrX precursor essential for visual regeneration in cone cells 34. This substrate selectivity is regulated through allosteric modulation by 11-cis retinoids, which suppresses esterification of alternative retinoid isomers 5. AWAT2 is highly expressed in meibomian glands, where it is critical for synthesizing meibum wax esters that maintain tear film stability 6. In Awat2 knockout mice, wax esters are 9-10 times reduced, meibum melting temperature increases from 32°C to 47°C, and ocular surface changes include reduced mucin expression, elevated interferon-γ production, and decreased tear film adherence 7. These mice recapitulate human meibomian gland dysfunction and evaporative dry eye disease 78. AWAT2 is also expressed in sebaceous glands 9, indicating roles in multiple lipid-secreting tissues. The enzyme represents a therapeutic target for treating meibomian gland dysfunction-related dry eye disease.

Sources cited
1
This substrate selectivity is regulated through allosteric modulation by 11-cis retinoids, which suppresses esterification of alternative retinoid isomers .
PMID: 28096191
2
AWAT2 is highly expressed in meibomian glands, where it is critical for synthesizing meibum wax esters that maintain tear film stability .
PMID: 34838721
3
In Awat2 knockout mice, wax esters are 9-10 times reduced, meibum melting temperature increases from 32°C to 47°C, and ocular surface changes include reduced mucin expression, elevated interferon-γ production, and decreased tear film adherence .
PMID: 39414024
4
AWAT2 is also expressed in sebaceous glands , indicating roles in multiple lipid-secreting tissues.
PMID: 38310227
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
rheumatoid arthritisOpen Targets
0.08Suggestive
keratosis follicularis spinulosa decalvansOpen Targets
0.06Suggestive
autosomal recessive congenital ichthyosis 11Open Targets
0.05Suggestive
Ectodermal dysplasia - blindnessOpen Targets
0.05Suggestive
ectodermal dysplasia-blindness syndromeOpen Targets
0.05Suggestive
Ichthyosis-hypotrichosis syndromeOpen Targets
0.05Suggestive
Clouston syndromeOpen Targets
0.05Suggestive
isolated congenital alacrimaOpen Targets
0.05Suggestive
acrodermatitis enteropathicaOpen Targets
0.05Suggestive
Olmsted syndrome 1Open Targets
0.05Suggestive
Darier diseaseOpen Targets
0.05Suggestive
Pili torti - onychodysplasiaOpen Targets
0.05Suggestive
pili torti-onychodysplasia syndromeOpen Targets
0.05Suggestive
epithelial recurrent erosion dystrophyOpen Targets
0.05Suggestive
Aniridia - ptosis - intellectual disability - familial obesityOpen Targets
0.05Suggestive
aniridia-ptosis-intellectual disability-familial obesity syndromeOpen Targets
0.05Suggestive
autosomal dominant palmoplantar keratoderma and congenital alopeciaOpen Targets
0.05Suggestive
IFAP syndrome 2Open Targets
0.05Suggestive
ring dermoid of corneaOpen Targets
0.05Suggestive
Woolly hairOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SDR16C5Protein interaction94%RLBP1Protein interaction91%RPE65Protein interaction91%ADH5Protein interaction91%ADH7Protein interaction91%HSD17B6Protein interaction91%
Tissue Expression6 tissues
Lung
100%
Liver
0%
Ovary
0%
Brain
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
AWAT2SDR16C5RLBP1RPE65ADH5ADH7HSD17B6
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6E213
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.70LoF Tolerant
pLIⓘ
0.36Tolerant
Observed/Expected LoF0.40 [0.24–0.70]
RankingsWhere AWAT2 stands among ~20K protein-coding genes
  • #15,799of 20,598
    Most Researched14
  • #5,366of 17,882
    Most Constrained (LOEUF)0.70
Genes detectedAWAT2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Expression of Acyl-CoA wax-alcohol acyltransferase 2 (AWAT2) by human and rabbit meibomian glands and meibocytes.
PMID: 34838721
Ocul Surf · 2022
1.00
2
Meibomian gland lipid alterations and ocular surface sequela in Awat2 knockout murine model of meibomian gland dysfunction and evaporative dry eye disease.
PMID: 39414024
Ocul Surf · 2024
0.90
3
A novel large deletion that encompasses EDA and the downstream gene AWAT2 causes X-linked hypohidrotic/anhidrotic ectodermal dysplasia.
PMID: 27443954
J Dermatol Sci · 2016
0.80
4
Skin single-cell transcriptomics reveals a core of sebaceous gland-relevant genes shared by mice and humans.
PMID: 38310227
BMC Genomics · 2024
0.70
5
Allosteric modulation of the substrate specificity of acyl-CoA wax alcohol acyltransferase 2.
PMID: 28096191
J Lipid Res · 2017
0.60