MOGAT2

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

Basic information

Region (hg38): 11:75717838-75732958

Links

ENSG00000166391

∙ NCBI:80168 ∙ OMIM:610270 ∙ HGNC:23248 ∙ Uniprot:Q3SYC2 ∙ 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 MOGAT2 gene.

not_specified (68 variants)
not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MOGAT2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000025098.4. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			65 clinvar	3 clinvar	2 clinvar	70
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	65	3	2

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MOGAT2	protein_coding	protein_coding	ENST00000198801	6	15140

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0105	0.981	125730	0	16	125746	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.240	220	210	1.05	0.0000130	2166
Missense in Polyphen		66	66.626	0.99061		745
Synonymous	0.477	76	81.5	0.933	0.00000464	674
Loss of Function	2.30	6	15.9	0.378	8.52e-7	161

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000206	0.000206
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.000109	0.000109
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Catalyzes the formation of diacylglycerol from 2- monoacylglycerol and fatty acyl-CoA. Has a preference toward monoacylglycerols containing unsaturated fatty acids in an order of C18:3 > C18:2 > C18:1 > C18:0. Plays a central role in absorption of dietary fat in the small intestine by catalyzing the resynthesis of triacylglycerol in enterocytes. May play a role in diet-induced obesity. {ECO:0000269|PubMed:12621063}.;
Pathway: Glycerolipid metabolism - Homo sapiens (human);Fat digestion and absorption - Homo sapiens (human);Triacylglyceride Synthesis;Metabolism of lipids;Metabolism;Triglyceride biosynthesis;Triglyceride metabolism (Consensus)

Recessive Scores

pRec: 0.0995

Intolerance Scores

loftool: 0.425
rvis_EVS: 0.98
rvis_percentile_EVS: 90.38

Haploinsufficiency Scores

pHI: 0.194
hipred: Y
hipred_score: 0.595
ghis

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.296

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Mogat2
Phenotype: liver/biliary system phenotype; digestive/alimentary phenotype; homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype;

Gene ontology

Biological process: glycerol metabolic process;diacylglycerol biosynthetic process;triglyceride biosynthetic process;intestinal absorption
Cellular component: endoplasmic reticulum;endoplasmic reticulum membrane;integral component of membrane;perinuclear endoplasmic reticulum membrane
Molecular function: 2-acylglycerol O-acyltransferase activity;acetyltransferase activity