AWAT2

acyl-CoA wax alcohol acyltransferase 2, the group of Diacylglycerol O-acyltransferase 2 family

Basic information

Region (hg38): X:70040542-70049938

Previous symbols: [ "DGAT2L4" ]

Links

ENSG00000147160 ∙ NCBI:158835 ∙ OMIM:300925 ∙ HGNC:23251 ∙ Uniprot:Q6E213 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AWAT2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AWAT2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	8	1	0

Variants in AWAT2

This is a list of pathogenic ClinVar variants found in the AWAT2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
X-70041821-A-G		not specified	Uncertain significance (Nov 08, 2022)
X-70041891-A-G		not specified	Uncertain significance (Oct 30, 2023)
X-70042303-C-T		not specified	Uncertain significance (Dec 17, 2023)
X-70042349-C-T		not specified	Uncertain significance (Sep 13, 2023)
X-70042516-G-A			Likely benign (Jan 01, 2023)
X-70043084-A-G		not specified	Likely benign (May 26, 2024)
X-70043102-C-T		not specified	Uncertain significance (Jul 11, 2023)
X-70043216-A-G		not specified	Uncertain significance (Oct 02, 2023)
X-70044354-C-T		not specified	Uncertain significance (Dec 15, 2023)
X-70044462-G-A		not specified	Uncertain significance (Mar 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AWAT2	protein_coding	protein_coding	ENST00000276101	7	9397

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.189	0.801	125349	1	3	125353	0.0000160

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.28	86	127	0.680	0.00000959	2165
Missense in Polyphen		16	39.536	0.4047		798
Synonymous	-0.404	47	43.6	1.08	0.00000297	663
Loss of Function	2.22	3	10.9	0.275	8.08e-7	179

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000734	0.0000734
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000727	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000124	0.00000882
Middle Eastern	0.0000727	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acyltransferase that predominantly esterify long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that it plays a central role in lipid metabolism in skin. Has no activity using decyl alcohol and significantly prefers the C16 and C18 alcohols. May also have 2-acylglycerol O-acyltransferase (MGAT) and acyl- CoA:retinol acyltransferase (ARAT) activities, to catalyze the synthesis of diacylglycerols and retinyl esters; however this activity is unclear in vivo. {ECO:0000269|PubMed:15220349, ECO:0000269|PubMed:15671038, ECO:0000269|PubMed:16106050}.
• Pathway: Retinol metabolism - Homo sapiens (human);Vitamin digestion and absorption - Homo sapiens (human);Vitamin A and Carotenoid Metabolism;Signaling by GPCR;Signal Transduction;Metabolism of lipids;Acyl chain remodeling of DAG and TAG;Metabolism;The retinoid cycle in cones (daylight vision);Glycerophospholipid biosynthesis;Phospholipid metabolism;G alpha (i) signalling events;Visual phototransduction;GPCR downstream signalling;Wax biosynthesis (Consensus)

Recessive Scores

• pRec: 0.0707

Intolerance Scores

• loftool: 0.236
• rvis_EVS: 0.57
• rvis_percentile_EVS: 81.89

Haploinsufficiency Scores

• pHI: 0.0366
• hipred: N
• hipred_score: 0.201

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Awat2

Gene ontology

• Biological process: retinoid metabolic process;wax biosynthetic process;acylglycerol acyl-chain remodeling;retinol metabolic process
• Cellular component: endoplasmic reticulum membrane;integral component of membrane
• Molecular function: 2-acylglycerol O-acyltransferase activity;long-chain-alcohol O-fatty-acyltransferase activity;retinol O-fatty-acyltransferase activity;arachidoyl-CoA:1-dodecanol O-acyltransferase activity;wax ester synthase activity