ABHD14B

protein-coding

abhydrolase domain containing 14B, the group of Abhydrolase domain containing

Gene summary

Enables hydrolase activity. Involved in positive regulation of transcription by RNA polymerase II. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001146314.2

Inheritance

—

ClinVar variants

U:31B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.91

Max pathogenic AF

—

Genomic locus

chr3:51,968,510-51,983,409

External References & Databases

Ensembl (ENSG00000114779)

Transcript & Mutation Effects

hg38 • Region Span ~14.9 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 ABHD14B variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 32

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001146314.2. 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	1 clinvar		2
missense			29 clinvar	2 clinvar		31
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	31	3	0	34

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 30 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001146314.2	RefSeq	NP_001139786.1	3	MANE Select
ENST00000361143.10	Ensembl	ENSP00000354841.5	3	MANE Select
NM_001254753.1	RefSeq	NP_001241682.1	3	Standard
NM_032750.3	RefSeq	NP_116139.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Phase II - Conjugation of compounds
Biological oxidations
Metabolism
Cytosolic sulfonation of small molecules

Biological Process

positive regulation of transcription by RNA polymerase II
3'-phosphoadenosine 5'-phosphosulfate metabolic process

Molecular Function

protein binding
hydrolase activity

Cellular Component

nucleus
nucleolus
cytoplasm
cytosol
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000483233
Coding exons: 3
Length: 14900
Individuals with no LoFs: 123592
Homozygous LoFs: 28
Heterozygous LoFs: 2125
Defined: 125745
p: 0.00860

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.852	97	124	0.784	0.00000673	1338
Missense (PolyPhen)		36	42.172	0.85365		493
Synonymous	2.07	36	55.7	0.646	0.00000319	472
Loss of Function	0.209	6	6.58	0.912	3.66e-7	66

Population LoF Frequency

Population	CAF	p-value	Status
African	0.044	0.044	notable
Latino/Admixed American	0.0047	0.0045	notable
Ashkenazi Jewish	0.0012	0.0011	notable
East Asian	0.00028	0.00027	rare
Finnish	0.0092	0.0091	notable
European (Non-Finnish)	0.0092	0.0089	notable
South Asian	0.00061	0.00059	rare
Other	0.011	0.011	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Has hydrolase activity towards p-nitrophenyl butyrate (in vitro). May activate transcription. {ECO:0000269|PubMed:14672934}.;

Recessive Scores

pRec: 0.0894

Intolerance Scores

LoFtool: 0.495
RVIS EVS: 0.22
RVIS percentile EVS: 67.92

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.115

Gene Damage Prediction

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