AADACL2

Summary

AADACL2 (arylacetamide deacetylase like 2, HGNC:24427) is a protein-coding gene on chromosome 3q25.1, encoding Arylacetamide deacetylase-like 2 (Q6P093).

Predicted to enable carboxylic ester hydrolase activity. Predicted to be located in extracellular region and membrane.

Source: NCBI Gene 344752 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 59 total — 1 pathogenic
• MANE Select transcript: NM_207365

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24427
Approved symbol	AADACL2
Name	arylacetamide deacetylase like 2
Location	3q25.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC72001
Ensembl gene	ENSG00000197953
Ensembl biotype	protein_coding
Entrez	344752

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 nonsense_mediated_decay

ENST00000356517, ENST00000445270

RefSeq mRNA: 1 — MANE Select: NM_207365 NM_207365

CCDS: CCDS3161

Canonical transcript exons

ENST00000356517 — 5 exons

Exon	Start	End
ENSE00001822350	151733927	151734173
ENSE00002290098	151756992	151761339
ENSE00002309928	151740646	151740868
ENSE00003469578	151744093	151744162
ENSE00003579567	151745509	151745680

Expression profiles

Bgee: expression breadth broad, 52 present calls, max score 82.95.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0931 / max 34.0863, expressed in 18 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
39235	0.0931	18

Top tissues by expression

119 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
skin of abdomen	UBERON:0001416	82.95	gold quality
zone of skin	UBERON:0000014	82.85	gold quality
skin of leg	UBERON:0001511	82.64	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.66	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	78.32	silver quality
placenta	UBERON:0001987	56.64	gold quality
omental fat pad	UBERON:0010414	51.52	gold quality
lower esophagus mucosa	UBERON:0035834	51.06	gold quality
stromal cell of endometrium	CL:0002255	48.10	gold quality
tonsil	UBERON:0002372	47.05	gold quality
duodenum	UBERON:0002114	45.61	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	44.20	gold quality
vagina	UBERON:0000996	43.37	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	42.78	gold quality
urinary bladder	UBERON:0001255	42.47	gold quality
adipose tissue	UBERON:0001013	41.33	gold quality
colonic epithelium	UBERON:0000397	41.25	gold quality
lower esophagus muscularis layer	UBERON:0035833	41.13	gold quality
lower esophagus	UBERON:0013473	41.04	gold quality
esophagus	UBERON:0001043	40.68	gold quality
transverse colon	UBERON:0001157	39.62	gold quality
esophagus mucosa	UBERON:0002469	39.55	gold quality
rectum	UBERON:0001052	38.66	silver quality
smooth muscle tissue	UBERON:0001135	38.52	gold quality
intestine	UBERON:0000160	38.27	gold quality
colon	UBERON:0001155	38.26	gold quality
small intestine	UBERON:0002108	38.21	gold quality
mucosa of transverse colon	UBERON:0004991	37.03	silver quality
small intestine Peyer’s patch	UBERON:0003454	36.71	gold quality
endometrium	UBERON:0001295	36.62	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.70

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

10 targeting AADACL2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-187-5P	99.74	70.26	1404
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-4677-5P	99.70	70.09	1940
HSA-MIR-1197	99.70	67.75	1027
HSA-MIR-4527	99.66	67.43	714
HSA-MIR-6503-5P	99.62	66.96	597
HSA-MIR-497-3P	99.61	69.71	1990
HSA-MIR-2276-3P	98.76	67.75	1384
HSA-MIR-4684-3P	98.24	69.91	1075
HSA-MIR-376A-2-5P	96.43	68.06	715

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:dkey-193c22.1	ENSDARG00000093687
mus_musculus	Aadacl2	ENSMUSG00000091376
rattus_norvegicus	Aadacl2	ENSRNOG00000073541
caenorhabditis_elegans		WBGENE00009186
caenorhabditis_elegans		WBGENE00011642
caenorhabditis_elegans		WBGENE00017515

Paralogs (5): AADAC (ENSG00000114771), NCEH1 (ENSG00000144959), AFMID (ENSG00000183077), AADACL3 (ENSG00000188984), AADACL4 (ENSG00000204518)

Protein

Protein identifiers

Arylacetamide deacetylase-like 2 — Q6P093 (reviewed: Q6P093)

All UniProt accessions (2): Q6P093, F8WFE5

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the ‘GDXG’ lipolytic enzyme family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6P093-1	1	yes
Q6P093-3	2

RefSeq proteins (1): NP_997248* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013094	AB_hydrolase_3	Domain
IPR017157	Arylacetamide_deacetylase	Family
IPR029058	AB_hydrolase_fold	Homologous_superfamily
IPR033140	Lipase_GDXG_put_SER_AS	Active_site
IPR050300	GDXG_lipolytic_enzyme	Family

Pfam: PF07859

UniProt features (12 total): active site 3, sequence variant 2, splice variant 2, signal peptide 1, chain 1, sequence conflict 1, short sequence motif 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6P093-F1	95.42	0.92

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (3): 189; 341; 371

Disulfide bonds (1): 116–338

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 12 (showing top): GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ESTER_BONDS, GOMF_CARBOXYLIC_ESTER_HYDROLASE_ACTIVITY, chr3q25, MIR187_5P, MIR2276_3P, MIR4684_3P, GSE11864_UNTREATED_VS_CSF1_IFNG_PAM3CYS_IN_MAC_DN, GSE11864_CSF1_VS_CSF1_IFNG_PAM3CYS_IN_MAC_DN, DESCARTES_FETAL_LUNG_CILIATED_EPITHELIAL_CELLS, GSE26495_PD1HIGH_VS_PD1LOW_CD8_TCELL_DN, GSE32986_GMCSF_VS_GMCSF_AND_CURDLAN_HIGHDOSE_STIM_DC_DN, GSE30971_2H_VS_4H_LPS_STIM_MACROPHAGE_WBP7_HET_DN

GO Biological Process (0):

GO Molecular Function (3): carboxylic ester hydrolase activity (GO:0052689), catalytic activity (GO:0003824), hydrolase activity (GO:0016787)

GO Cellular Component (2): extracellular region (GO:0005576), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
hydrolase activity, acting on ester bonds	1
molecular_function	1
catalytic activity	1

Protein interactions and networks

STRING

1270 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AADACL2	STOX1	Q6ZVD7	492
AADACL2	SLC52A3	Q9NQ40	487
AADACL2	SLC26A5	P58743	469
AADACL2	SRRM4	A7MD48	458
AADACL2	TMC1	Q8TDI8	454
AADACL2	PRXL2C	Q7RTV5	453
AADACL2	CLIC5	Q9NZA1	451
AADACL2	CLCA2	Q9UQC9	448
AADACL2	OTOF	Q9HC10	438
AADACL2	RPGRIP1L	Q68CZ1	433
AADACL2	ADGRV1	Q8WXG9	433
AADACL2	WFS1	O76024	424
AADACL2	CDH23	Q9H251	418
AADACL2	COL10A1	Q03692	402
AADACL2	OTOG	Q6ZRI0	398

IntAct

0 interactions, top by confidence:

BioGRID (1): AADACL2 (Positive Genetic)

ESM2 similar proteins: A2A7Z8, A7LB60, P08910, P0DKC5, P0DKC6, P22760, P70683, P83006, Q05AK6, Q0P5B7, Q13093, Q14032, Q1LZ86, Q28017, Q32LS6, Q4R2Y9, Q4V8A1, Q502J0, Q5EA42, Q5PPS7, Q5VUY0, Q5VUY2, Q5XI64, Q5ZJL8, Q5ZKL5, Q60963, Q63276, Q6DHN0, Q6GLL2, Q6IE26, Q6P093, Q7L211, Q7M370, Q7SY73, Q7Z5M8, Q802V6, Q80UX8, Q8BM81, Q8IUS5, Q8R2Y0

Diamond homologs: A0A0E4AET8, A0A0G3FWY4, B0F2B4, D4ASH1, G3V7J5, I6Y9F7, O00748, O08710, O16168, O16173, O46421, P06882, P0C6R3, P10959, P12337, P16303, P16854, P17573, P19835, P22394, P23141, P23953, P24484, P25726, P25727, P35501, P35502, P37967, P71668, P79066, P86325, P96402, P9WK86, P9WK87, Q01470, Q07085, Q1PET6, Q29550, Q47M62, Q50681

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

59 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	55
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
395230	GRCh37/hg19 3q24-25.2(chr3:148425748-153220169)x1	Pathogenic

SpliceAI

716 predictions. Top by Δscore:

Variant	Effect	Δscore
3:151734171:ACGG:A	donor_loss	1.0000
3:151734172:CGGT:C	donor_loss	1.0000
3:151734174:GTAA:G	donor_loss	1.0000
3:151734175:T:A	donor_loss	1.0000
3:151740829:A:AG	donor_gain	1.0000
3:151744163:G:GG	donor_gain	1.0000
3:151734174:G:GG	donor_gain	0.9900
3:151740640:TTACA:T	acceptor_loss	0.9900
3:151740641:TACA:T	acceptor_loss	0.9900
3:151740642:ACAGG:A	acceptor_loss	0.9900
3:151740643:CAGG:C	acceptor_loss	0.9900
3:151740644:AGGCT:A	acceptor_loss	0.9900
3:151740645:G:GT	acceptor_loss	0.9900
3:151740645:GGCT:G	acceptor_gain	0.9900
3:151740801:A:T	donor_gain	0.9900
3:151740843:T:TA	donor_gain	0.9900
3:151740844:G:GA	donor_gain	0.9900
3:151740644:A:AG	acceptor_gain	0.9800
3:151740644:AG:A	acceptor_gain	0.9800
3:151740645:G:GG	acceptor_gain	0.9800
3:151740645:GG:G	acceptor_gain	0.9800
3:151740860:G:GT	donor_gain	0.9800
3:151740869:G:GG	donor_gain	0.9800
3:151744158:GTGGA:G	donor_gain	0.9800
3:151745507:A:AG	acceptor_gain	0.9800
3:151745508:G:GG	acceptor_gain	0.9800
3:151744161:GA:G	donor_gain	0.9700
3:151745506:A:G	acceptor_gain	0.9700
3:151740645:GGCTA:G	acceptor_gain	0.9600
3:151740820:C:T	donor_gain	0.9600

AlphaMissense

2633 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:151744143:G:C	A138P	0.965
3:151745642:A:C	S189R	0.953
3:151745644:T:A	S189R	0.953
3:151745644:T:G	S189R	0.953
3:151740782:G:C	R92P	0.940
3:151757421:G:C	D345H	0.935
3:151745643:G:T	S189I	0.932
3:151744150:T:A	V140D	0.928
3:151740830:T:A	I108K	0.926
3:151757420:A:C	R344S	0.923
3:151757420:A:T	R344S	0.923
3:151757449:T:C	L354P	0.921
3:151757590:T:C	L401S	0.921
3:151745534:T:C	F153L	0.920
3:151745536:T:A	F153L	0.920
3:151745536:T:G	F153L	0.920
3:151745622:G:C	R182P	0.913
3:151757235:T:A	W283R	0.910
3:151757235:T:C	W283R	0.910
3:151740824:C:A	A106D	0.906
3:151744128:G:C	A133P	0.906
3:151757449:T:A	L354H	0.906
3:151745629:C:G	C184W	0.900
3:151757402:T:G	C338W	0.899
3:151757436:T:G	Y350D	0.896
3:151757410:A:C	D341A	0.894
3:151757411:T:A	D341E	0.893
3:151757411:T:G	D341E	0.893
3:151757400:T:C	C338R	0.889
3:151745633:G:C	A186P	0.884

dbSNP variants (sampled 300 via entrez): RS1000027872 (3:151739815 G>A), RS1000093004 (3:151741033 T>C), RS1000302470 (3:151753303 C>T), RS1000396371 (3:151759773 T>A), RS1000411538 (3:151753007 A>C,T), RS1000546322 (3:151740033 T>C), RS1000752836 (3:151756839 T>C), RS1000830082 (3:151733032 C>T), RS1000947987 (3:151744186 A>G,T), RS1000983495 (3:151733231 C>T), RS1001111743 (3:151737960 G>C), RS1001215177 (3:151744928 G>C), RS1001329513 (3:151738709 C>A), RS1001478174 (3:151744626 T>G), RS1001550994 (3:151744942 C>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST006035_3	Breast cancer and/or colorectal cancer	8.000000e-07
GCST006661_292	Male-pattern baldness	1.000000e-10

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenate	decreases expression, increases abundance	1
perfluorooctanoic acid	increases expression	1
avobenzone	decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1
Arsenic	decreases expression, increases abundance	1
Sodium Dodecyl Sulfate	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	decreases methylation	1
Antirheumatic Agents	increases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.