MBOAT2

membrane bound O-acyltransferase domain containing 2, the group of Membrane bound O-acyltransferase family

Basic information

Region (hg38): 2:8852690-9003709

Previous symbols: [ "OACT2" ]

Links

ENSG00000143797 ∙ NCBI:129642 ∙ OMIM:611949 ∙ HGNC:25193 ∙ Uniprot:Q6ZWT7 ∙ 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 MBOAT2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MBOAT2 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			31	4		35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	31	4	0

Variants in MBOAT2

This is a list of pathogenic ClinVar variants found in the MBOAT2 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-8858695-G-A		not specified	Uncertain significance (Dec 07, 2024)
2-8858704-G-A		not specified	Uncertain significance (Apr 01, 2024)
2-8858725-T-C		not specified	Likely benign (Jan 08, 2024)
2-8858791-T-C		not specified	Uncertain significance (Sep 08, 2024)
2-8858831-T-C		not specified	Likely benign (Jan 01, 2025)
2-8858840-T-C		not specified	Uncertain significance (Nov 09, 2021)
2-8858846-T-C		not specified	Uncertain significance (Jun 01, 2023)
2-8858860-A-G		not specified	Uncertain significance (Mar 16, 2024)
2-8860622-G-T		not specified	Uncertain significance (Nov 29, 2024)
2-8860632-G-C		not specified	Uncertain significance (Dec 09, 2024)
2-8860674-T-C		not specified	Uncertain significance (Jul 20, 2021)
2-8862673-G-A		not specified	Uncertain significance (Sep 18, 2024)
2-8862691-T-C		not specified	Uncertain significance (Nov 09, 2024)
2-8862710-T-A		not specified	Uncertain significance (Sep 30, 2024)
2-8862721-C-G		not specified	Uncertain significance (Nov 10, 2024)
2-8864215-A-T		not specified	Uncertain significance (Apr 15, 2024)
2-8864224-C-A		not specified	Uncertain significance (Jul 14, 2024)
2-8864227-G-A		not specified	Uncertain significance (Feb 23, 2023)
2-8868459-A-G		not specified	Uncertain significance (Dec 04, 2024)
2-8868486-C-A		not specified	Uncertain significance (Sep 26, 2022)
2-8868487-G-A		not specified	Uncertain significance (Feb 17, 2024)
2-8868503-G-T		not specified	Uncertain significance (Aug 20, 2024)
2-8873144-C-A		not specified	Uncertain significance (Aug 20, 2024)
2-8873171-T-C		not specified	Likely benign (Dec 15, 2023)
2-8873177-T-C		not specified	Uncertain significance (Jan 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MBOAT2	protein_coding	protein_coding	ENST00000305997	13	151123

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.516	0.484	125736	0	12	125748	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.70	177	253	0.699	0.0000122	3393
Missense in Polyphen		49	112.6	0.43519		1425
Synonymous	1.24	76	91.0	0.835	0.00000463	975
Loss of Function	3.87	6	28.2	0.213	0.00000132	366

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000121	0.000121
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000709	0.0000703
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acyltransferase which mediates the conversion of lysophosphatidylethanolamine (1-acyl-sn-glycero-3- phosphoethanolamine or LPE) into phosphatidylethanolamine (1,2- diacyl-sn-glycero-3-phosphoethanolamine or PE) (LPEAT activity). Catalyzes also the acylation of lysophosphatidic acid (LPA) into phosphatidic acid (PA) (LPAAT activity). Has also a very weak lysophosphatidylcholine acyltransferase (LPCAT activity). Prefers oleoyl-CoA as the acyl donor. Lysophospholipid acyltransferases (LPLATs) catalyze the reacylation step of the phospholipid remodeling pathway also known as the Lands cycle. {ECO:0000269|PubMed:18772128}.
• Pathway: Glycerolipid metabolism - Homo sapiens (human);Glycerophospholipid metabolism - Homo sapiens (human);Metabolism of lipids;Metabolism;CDP-diacylglycerol biosynthesis;Acyl chain remodelling of PC;triacylglycerol biosynthesis;Glycerophospholipid biosynthesis;Phospholipid metabolism;Acyl chain remodelling of PE (Consensus)

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.382
• rvis_EVS: 0.08
• rvis_percentile_EVS: 60.31

Haploinsufficiency Scores

• pHI: 0.158
• hipred: Y
• hipred_score: 0.706
• ghis: 0.507

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0145

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mboat2

Gene ontology

• Biological process: phospholipid biosynthetic process;phosphatidylcholine acyl-chain remodeling;phosphatidylethanolamine acyl-chain remodeling
• Cellular component: endoplasmic reticulum membrane;integral component of membrane
• Molecular function: 1-acylglycerol-3-phosphate O-acyltransferase activity;2-acylglycerol-3-phosphate O-acyltransferase activity