MBOAT4

protein-coding

membrane bound O-acyltransferase domain containing 4, the group of Membrane bound O-acyltransferase family

Gene summary

Enables acyltransferase activity, transferring groups other than amino-acyl groups. Involved in peptidyl-serine octanoylation. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

OACT4

MANE transcript

NM_001100916.2

Inheritance

—

ClinVar variants

U:46B:9

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.73

Max pathogenic AF

—

Genomic locus

chr8:30,131,671-30,144,665

External References & Databases

Ensembl (ENSG00000177669)

Transcript & Mutation Effects

hg38 • Region Span ~13.0 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 MBOAT4 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 53

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001100916.2. 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				2 clinvar	1 clinvar	3
missense			46 clinvar	5 clinvar	1 clinvar	52
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	46	7	2	55

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 4 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001100916.2	RefSeq	NP_001094386.1	3	MANE Select
ENST00000320542.4	Ensembl	ENSP00000314196.3	3	MANE Select
ENST00001126652.1	Ensembl	ENSP00000796457.1	3	Standard
ENST00001133730.1	Ensembl	ENSP00000806375.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Peptide hormone metabolism
Synthesis, secretion, and deacylation of Ghrelin
Metabolism of proteins

Biological Process

peptidyl-serine octanoylation

Molecular Function

O-acyltransferase activity
serine O-acyltransferase activity

Cellular Component

endoplasmic reticulum membrane
integral component of endoplasmic reticulum membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000320542
Coding exons: 3
Length: 12863
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.51	168	233	0.722	0.0000120	2811
Missense (PolyPhen)		44	73.5	0.59864		950
Synonymous	2.62	66	99.2	0.665	0.00000586	882
Loss of Function	1.08	13	17.9	0.725	0.00000100	171

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Mediates the octanoylation of ghrelin at 'Ser-3'. Can use a variety of fatty acids as substrates including octanoic acid, decanoic acid and tetradecanoic acid. {ECO:0000269|PubMed:18443287}.;

Recessive Scores

pRec: 0.109

Intolerance Scores

RVIS EVS: 1.24
RVIS percentile EVS: 93.29

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.105

Gene Damage Prediction

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