AADACL2

protein-coding

arylacetamide deacetylase like 2, the group of Arylacetamide deacetylase family

Gene summary

Predicted to enable carboxylic ester hydrolase activity. Predicted to be located in extracellular region and membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_207365.4

Inheritance

—

ClinVar variants

U:56B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.04

Max pathogenic AF

—

Genomic locus

chr3:151,733,916-151,761,339

External References & Databases

Ensembl (ENSG00000197953)

Transcript & Mutation Effects

hg38 • Region Span ~27.4 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 AADACL2 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 59

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_207365.4. 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.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			56 clinvar	3 clinvar		59
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	56	3	0	59

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_207365.4	RefSeq	NP_997248.2	5	MANE Select
ENST00000356517.4	Ensembl	ENSP00000348911.3	5	MANE Select
ENST00000445270.1	Ensembl	ENSP00000387390.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

carboxylic ester hydrolase activity

Cellular Component

extracellular region
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000356517
Coding exons: 5
Length: 27424
Individuals with no LoFs: 125706
Homozygous LoFs: 0
Heterozygous LoFs: 17
Defined: 125723
p: 0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.209	206	215	0.960	0.0000105	2619
Missense (PolyPhen)		58	65.057	0.89153		878
Synonymous	-0.225	79	76.5	1.03	0.00000387	772
Loss of Function	-0.121	12	11.6	1.04	8.42e-7	115

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.00011	0.00011	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.116

Intolerance Scores

LoFtool: 0.878
RVIS EVS: -0.31
RVIS percentile EVS: 31.93

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.187

Gene Damage Prediction

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