MOGAT3

protein-coding

monoacylglycerol O-acyltransferase 3, the group of Diacylglycerol O-acyltransferase 2 family

Gene summary

Acyl-CoA:monoacylglycerol acyltransferase (MOGAT; EC 2.3.1.22) catalyzes the synthesis of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA (Cheng et al., 2003 [PubMed 12618427]).[supplied by OMIM, Mar 2008]

MANE transcript

NM_178176.4

Inheritance

—

ClinVar variants

U:63B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.12

Max pathogenic AF

—

Genomic locus

chr7:101,195,007-101,201,038

External References & Databases

Ensembl (ENSG00000106384)

Transcript & Mutation Effects

hg38 • Region Span ~6.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MOGAT3 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 65

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_178176.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				4 clinvar		4
missense			63 clinvar	2 clinvar		65
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	63	6	0	69

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 23 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_178176.4	RefSeq	NP_835470.1	7	MANE Select
ENST00000223114.9	Ensembl	ENSP00000223114.4	7	MANE Select
NM_001287147.2	RefSeq	NP_001274076.1	6	Standard
ENST00000379423.3	Ensembl	ENSP00000368734.3	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Glycerolipid metabolism - Homo sapiens (human)
Fat digestion and absorption - Homo sapiens (human)
Triacylglyceride Synthesis
Metabolism of lipids
Metabolism

Biological Process

glycerol metabolic process
triglyceride biosynthetic process

Molecular Function

2-acylglycerol O-acyltransferase activity
diacylglycerol O-acyltransferase activity

Cellular Component

endoplasmic reticulum membrane
integral component of membrane
perinuclear endoplasmic reticulum membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000223114
Coding exons: 7
Length: 6015
Individuals with no LoFs: 125696
Homozygous LoFs: 1
Heterozygous LoFs: 51
Defined: 125748
p: 0.000207

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.314	200	213	0.939	0.0000132	2193
Missense (PolyPhen)		69	69.453	0.99348		775
Synonymous	-1.07	105	92.0	1.14	0.00000622	701
Loss of Function	-0.420	17	15.2	1.12	6.51e-7	166

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.000087	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0010	0.0010	notable
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000090	0.000088	rare
South Asian	0.00056	0.00056	rare
Other	0.00033	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Catalyzes the formation of diacylglycerol from 2- monoacylglycerol and fatty acyl-CoA. Also able to catalyze the terminal step in triacylglycerol synthesis by using diacylglycerol and fatty acyl-CoA as substrates. Has a preference toward palmitoyl-CoA and oleoyl-CoA. May be involved in absorption of dietary fat in the small intestine by catalyzing the resynthesis of triacylglycerol in enterocytes. {ECO:0000269|PubMed:12618427}.;

Recessive Scores

pRec: 0.108

Intolerance Scores

LoFtool: 0.493
RVIS EVS: 0.22
RVIS percentile EVS: 68.27

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.406

Gene Damage Prediction

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