GeneBe

MBOAT2

protein-coding

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

Gene summary

Enables 1-acylglycerophosphocholine O-acyltransferase activity; 1-acylglycerophosphoethanolamine O-acyltransferase activity; and 1-acylglycerophosphoserine O-acyltransferase activity. Involved in phosphatidylcholine acyl-chain remodeling; phosphatidylethanolamine acyl-chain remodeling; and phosphatidylserine acyl-chain remodeling. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:
  • OACT2

MANE transcript

NM_138799.4

Inheritance

—

ClinVar variants

U:53B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.21

Max pathogenic AF

—

Genomic locus

chr2:8,852,690-9,003,709

External References & Databases

Ensembl (ENSG00000143797)NCBI Gene (129642)OMIM (611949)HGNC:25193GenCCUniProt (Q6ZWT7)AlphaFoldClinVar (MBOAT2)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~151.0 kb
Loading mutation effect viewer...

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 MBOAT2 variants in ClinVar

1 Conditions Cataloged
not specifiedTotal: 51

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_138799.4. 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.

EffectPLPVUSLBBSum
synonymous
3
clinvar
 3
missense
48
clinvar
5
clinvar
 53
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
2
clinvar
 2
Total00535058
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 32 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_138799.4RefSeqNP_620154.213MANE Select
ENST00000305997.8EnsemblENSP00000302177.313MANE Select
NM_001321265.2RefSeqNP_001308194.111Standard
NM_001321266.2RefSeqNP_001308195.19Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • Glycerolipid metabolism - Homo sapiens (human)
  • Glycerophospholipid metabolism - Homo sapiens (human)
  • Metabolism of lipids
  • Metabolism
  • CDP-diacylglycerol biosynthesis

Biological Process

  • phospholipid biosynthetic process
  • phosphatidylcholine acyl-chain remodeling
  • phosphatidylethanolamine acyl-chain remodeling

Molecular Function

  • 1-acylglycerol-3-phosphate O-acyltransferase activity
  • 2-acylglycerol-3-phosphate O-acyltransferase activity

Cellular Component

  • endoplasmic reticulum membrane
  • integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000305997
Coding exons
13
Length
151123
Individuals with no LoFs
125736
Homozygous LoFs
0
Heterozygous LoFs
12
Defined
125748
p
0.0000477
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense1.701772530.6990.00001223393
Missense (PolyPhen)49112.60.435191425
Synonymous1.247691.00.8350.00000463975
Loss of Function3.87628.20.2130.00000132366

Population LoF Frequency

PopulationCAFp-valueStatus
African0.0000620.000062rare
Latino/Admixed American0.0000590.000058rare
Ashkenazi Jewish00.0absent
East Asian00.0absent
Finnish00.0absent
European (Non-Finnish)0.0000710.000070rare
South Asian0.0000330.000033rare
Other00.0absent

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec
0.108

Intolerance Scores

LoFtool
0.382
RVIS EVS
0.08
RVIS percentile EVS
60.31

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
S
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.0145

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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