ABHD12B

protein-coding

abhydrolase domain containing 12B, the group of Abhydrolase domain containing

Gene summary

Predicted to enable monoacylglycerol lipase activity and phosphatidylcholine lysophospholipase A1 activity. Predicted to be involved in monoacylglycerol catabolic process and phosphatidylserine catabolic process. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C14orf29

MANE transcript

NM_001206673.2

Inheritance

—

ClinVar variants

U:60B:7

Top phenotype

Primary ciliary dyskinesia

gnomAD constraint

pLI —, LoF o/e 1.1

Max pathogenic AF

—

Genomic locus

chr14:50,872,053-50,904,970

External References & Databases

Ensembl (ENSG00000131969)

Transcript & Mutation Effects

hg38 • Region Span ~32.9 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 ABHD12B variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 60

not providedTotal: 6

Primary ciliary dyskinesiaTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001206673.2. 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			1 clinvar	2 clinvar		3
missense			57 clinvar	5 clinvar		62
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	60	7	0	67

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 15 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001206673.2	RefSeq	NP_001193602.1	13	MANE Select
ENST00000337334.7	Ensembl	ENSP00000336693.2	13	MANE Select
NM_181533.4	RefSeq	NP_853511.2	11	Standard
NM_181814.2	RefSeq	NP_861535.1	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

hydrolase activity

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000337334
Coding exons: 13
Length: 32811
Individuals with no LoFs: 123822
Homozygous LoFs: 15
Heterozygous LoFs: 1911
Defined: 125748
p: 0.00769

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.165	184	178	1.03	0.00000888	2350
Missense (PolyPhen)		52	57.823	0.89929		736
Synonymous	0.0354	64	64.4	0.994	0.00000328	674
Loss of Function	-0.413	21	19.1	1.10	8.00e-7	268

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0021	0.0021	notable
Latino/Admixed American	0.0022	0.0021	notable
Ashkenazi Jewish	0.00050	0.00050	rare
East Asian	0.0013	0.0013	notable
Finnish	0.012	0.012	notable
European (Non-Finnish)	0.013	0.013	notable
South Asian	0.0017	0.0016	notable
Other	0.0075	0.0075	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0832

Intolerance Scores

LoFtool: 0.914
RVIS EVS: 1.04
RVIS percentile EVS: 91.26

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.421

Gene Damage Prediction

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