ABHD14B

Summary

ABHD14B (abhydrolase domain containing 14B, HGNC:28235) is a protein-coding gene on chromosome 3p21.2, encoding Putative protein-lysine deacylase ABHD14B (Q96IU4). Acts as an atypical protein-lysine deacetylase in vitro.

Enables hydrolase activity. Involved in positive regulation of transcription by RNA polymerase II. Located in cytosol; nucleolus; and nucleoplasm.

Source: NCBI Gene 84836 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 39 total
• Druggable target: yes
• MANE Select transcript: NM_001146314

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28235
Approved symbol	ABHD14B
Name	abhydrolase domain containing 14B
Location	3p21.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC15429, CIB
Ensembl gene	ENSG00000114779
Ensembl biotype	protein_coding
OMIM	621040
Entrez	84836

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 14 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000315877, ENST00000361143, ENST00000395008, ENST00000461108, ENST00000473912, ENST00000483233, ENST00000487005, ENST00000525795, ENST00000875164, ENST00000875165, ENST00000875166, ENST00000875167, ENST00000875168, ENST00000875169, ENST00000914558, ENST00000941099

RefSeq mRNA: 3 — MANE Select: NM_001146314 NM_001146314, NM_001254753, NM_032750

CCDS: CCDS2842

Canonical transcript exons

ENST00000361143 — 4 exons

Exon	Start	End
ENSE00001520298	51968515	51969605
ENSE00002151334	51973965	51974049
ENSE00003600393	51969943	51970184
ENSE00003633796	51971460	51971698

Expression profiles

Bgee: expression breadth ubiquitous, 244 present calls, max score 98.95.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 46.2963 / max 346.9525, expressed in 1817 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
42389	46.2963	1817

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	98.95	gold quality
kidney epithelium	UBERON:0004819	98.82	gold quality
right lobe of liver	UBERON:0001114	97.29	gold quality
right adrenal gland	UBERON:0001233	96.80	gold quality
right adrenal gland cortex	UBERON:0035827	96.71	gold quality
adult mammalian kidney	UBERON:0000082	96.61	gold quality
left adrenal gland	UBERON:0001234	96.44	gold quality
left adrenal gland cortex	UBERON:0035825	96.42	gold quality
adrenal cortex	UBERON:0001235	96.25	gold quality
renal medulla	UBERON:0000362	96.15	gold quality
mucosa of transverse colon	UBERON:0004991	95.89	gold quality
liver	UBERON:0002107	95.85	gold quality
cortex of kidney	UBERON:0001225	95.76	gold quality
upper arm skin	UBERON:0004263	95.56	gold quality
right uterine tube	UBERON:0001302	95.51	gold quality
transverse colon	UBERON:0001157	95.41	gold quality
body of pancreas	UBERON:0001150	95.35	gold quality
small intestine Peyer’s patch	UBERON:0003454	95.34	gold quality
omental fat pad	UBERON:0010414	95.21	gold quality
metanephros cortex	UBERON:0010533	95.21	gold quality
peritoneum	UBERON:0002358	95.16	gold quality
adipose tissue of abdominal region	UBERON:0007808	95.08	gold quality
right lobe of thyroid gland	UBERON:0001119	94.97	gold quality
adrenal gland	UBERON:0002369	94.95	gold quality
endocervix	UBERON:0000458	94.93	gold quality
decidua	UBERON:0002450	94.92	gold quality
left lobe of thyroid gland	UBERON:0001120	94.73	gold quality
rectum	UBERON:0001052	94.69	gold quality
small intestine	UBERON:0002108	94.64	gold quality
body of stomach	UBERON:0001161	94.45	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-110499	no	296.77
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

75 targeting ABHD14B, 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-12118	100.00	65.88	1270
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4514	99.99	67.10	1870
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-6883-5P	99.69	68.05	3785

Literature-anchored findings (GeneRIF, showing 1)

• ABHD14B is a lysine deacetylase that transfers an acetyl group on a lysine residue to coenzyme A. (PMID:31478652)

Cross-species orthologs

16 orthologs

Organism	Symbol	Gene ID
danio_rerio	abhd14b	ENSDARG00000100531
mus_musculus	Abhd14b	ENSMUSG00000042073
rattus_norvegicus	Abhd14b	ENSRNOG00000012073
drosophila_melanogaster	CG5704	FBGN0026570
drosophila_melanogaster	CG5707	FBGN0026593
drosophila_melanogaster	CG15879	FBGN0035309
drosophila_melanogaster	CG15820	FBGN0035312
drosophila_melanogaster	CG11309	FBGN0037070
drosophila_melanogaster	CG7632	FBGN0037071
caenorhabditis_elegans	C31H5.1	WBGENE00007854
caenorhabditis_elegans		WBGENE00017335
caenorhabditis_elegans		WBGENE00018077
caenorhabditis_elegans		WBGENE00019525
caenorhabditis_elegans		WBGENE00022258
caenorhabditis_elegans		WBGENE00022259
caenorhabditis_elegans		WBGENE00022260

Paralogs (12): ABHD5 (ENSG00000011198), ABHD4 (ENSG00000100439), EPHX3 (ENSG00000105131), ABHD11 (ENSG00000106077), MEST (ENSG00000106484), EPHX2 (ENSG00000120915), ABHD8 (ENSG00000127220), BPHL (ENSG00000137274), ABHD6 (ENSG00000163686), EPHX4 (ENSG00000172031), SERHL2 (ENSG00000183569), ABHD14A (ENSG00000248487)

Protein

Protein identifiers

Putative protein-lysine deacylase ABHD14B — Q96IU4 (reviewed: Q96IU4)

Alternative names: Alpha/beta hydrolase domain-containing protein 14B, CCG1-interacting factor B

All UniProt accessions (4): B4DQI4, Q96IU4, F8W9U3, V9HW87

UniProt curated annotations — full annotation on UniProt →

Function. Acts as an atypical protein-lysine deacetylase in vitro. Catalyzes the deacetylation of lysine residues using CoA as substrate, generating acetyl-CoA and the free amine of protein-lysine residues. Additional experiments are however required to confirm the protein-lysine deacetylase activity in vivo. Has hydrolase activity towards various surrogate p-nitrophenyl (pNp) substrates, such as pNp-butyrate, pNp-acetate and pNp-octanoate in vitro, with a strong preference for pNp-acetate. May activate transcription.

Subunit / interactions. May interact with TAF1.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Ubiquitous. Detected in spleen, thymus, prostate, testis, ovary, small intestine, colon, peripheral blood leukocyte, heart, placenta, lung, liver, skeletal muscle, pancreas and kidney.

Similarity. Belongs to the AB hydrolase superfamily. ABHD14 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96IU4-1	1	yes
Q96IU4-2	2

RefSeq proteins (3): NP_001139786, NP_001241682, NP_116139 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000073	AB_hydrolase_1	Domain
IPR029058	AB_hydrolase_fold	Homologous_superfamily

Pfam: PF12697

Catalyzed reactions (Rhea), 1 shown:

• L-lysyl-[protein] + acetyl-CoA = N(6)-acetyl-L-lysyl-[protein] + CoA + H(+) (RHEA:45948)

UniProt features (31 total): strand 11, helix 11, active site 3, modified residue 2, initiator methionine 1, chain 1, splice variant 1, mutagenesis site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1IMJ	X-RAY DIFFRACTION	2.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96IU4-F1	97.08	0.96

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): 111 (charge relay system); 162 (charge relay system); 188 (charge relay system)

Post-translational modifications (2): 2, 91

Mutagenesis-validated functional residues (1):

Position	Phenotype
111	abolished protein-lysine deacetylase activity in vitro.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-156584	Cytosolic sulfonation of small molecules
R-HSA-1430728	Metabolism
R-HSA-156580	Phase II - Conjugation of compounds
R-HSA-211859	Biological oxidations

MSigDB gene sets: 123 (showing top): REACTOME_BIOLOGICAL_OXIDATIONS, TGCGCANK_UNKNOWN, BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, DARWICHE_PAPILLOMA_PROGRESSION_RISK, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS, REACTOME_CYTOSOLIC_SULFONATION_OF_SMALL_MOLECULES

GO Biological Process (2): positive regulation of transcription by RNA polymerase II (GO:0045944), 3’-phosphoadenosine 5’-phosphosulfate metabolic process (GO:0050427)

GO Molecular Function (6): hydrolase activity (GO:0016787), protein-lysine-acetyltransferase activity (GO:0061733), catalytic activity (GO:0003824), protein binding (GO:0005515), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)

GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), cytosol (GO:0005829), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Phase II - Conjugation of compounds	1
Biological oxidations	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
catalytic activity	2
nuclear lumen	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
sulfur compound metabolic process	1
purine ribonucleotide metabolic process	1
purine ribonucleoside bisphosphate metabolic process	1
oxoacid metabolic process	1
protein N-acetyltransferase activity	1
molecular_function	1
binding	1
transferase activity	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
intracellular anatomical structure	1
cytoplasm	1
extracellular vesicle	1

Protein interactions and networks

STRING

1470 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABHD14B	ABHD10	Q9NUJ1	527
ABHD14B	ABHD12B	Q7Z5M8	506
ABHD14B	TAF1	P21675	499
ABHD14B	ABHD16B	Q9H3Z7	493
ABHD14B	TTC38	Q5R3I4	479
ABHD14B	ABHD15	Q6UXT9	460
ABHD14B	ABHD13	Q7L211	458
ABHD14B	ABHD6	Q9BV23	453
ABHD14B	BPHL	Q86WA6	443
ABHD14B	ABHD2	P08910	437
ABHD14B	ABHD1	Q96SE0	431
ABHD14B	ABHD8	Q96I13	427
ABHD14B	RERG	Q96A58	422
ABHD14B	ABHD12	Q8N2K0	422
ABHD14B	MOB3C	Q70IA8	421

IntAct

15 interactions, top by confidence:

A	B	Type	Score
TLK1	DYNLL1	psi-mi:“MI:0914”(association)	0.730
	TK2	psi-mi:“MI:0915”(physical association)	0.400
ENG	IGKV2-28	psi-mi:“MI:0914”(association)	0.350
SH2D3C	TMEM14DP	psi-mi:“MI:0914”(association)	0.350
MAPK3	HMMR	psi-mi:“MI:0914”(association)	0.350
TLK2	PCNA	psi-mi:“MI:0914”(association)	0.350
SAR1B	UBA6	psi-mi:“MI:0914”(association)	0.350
SLC22A4	RTL8C	psi-mi:“MI:0914”(association)	0.350
	SHTN1	psi-mi:“MI:0914”(association)	0.350
SLC2A2	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC2A5	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A9	TRAFD1	psi-mi:“MI:0914”(association)	0.350
SPNS2	ESYT2	psi-mi:“MI:0914”(association)	0.350
ABHD14B	MTNR1A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (38): TKT (Co-fractionation), ABHD14B (Affinity Capture-MS), ABHD14B (Affinity Capture-MS), ABHD14B (Affinity Capture-MS), ABHD14B (Affinity Capture-MS), ABHD14B (Two-hybrid), ABHD14B (Affinity Capture-MS), ABHD14B (Affinity Capture-MS), ABHD14B (Affinity Capture-MS), ABHD14B (Affinity Capture-MS), ABHD14B (Affinity Capture-MS), ABHD14B (Affinity Capture-MS), ABHD14B (Affinity Capture-MS), ABHD14B (Co-fractionation), NANS (Co-fractionation)

ESM2 similar proteins: A0A068ACU9, A0A084R1K6, A0A1L7U5Y7, A0A1L9WUI4, A0A1W5T1Y7, A0A481WQ01, A0A6F8RQ06, A1VUV0, A4JPX5, A6TAC7, A7YY28, B1XBJ6, B2JQW2, B2RQC6, B5EPM5, B7J6R2, C8CP46, F8QQ74, G4MVZ4, P08955, P0A114, P0A115, P0CU85, P17548, P27100, P27708, P55610, P77044, P9WEZ7, P9WNH4, P9WNH5, Q13QH4, Q1LV46, Q2Y9Y7, Q400K3, Q4WAY4, Q4WF29, Q55921, Q59324, Q5I0C4

Diamond homologs: A0A1L5BTC1, A0A242M8J4, A1KLS7, A4JPX5, A5U5S9, A7YY28, A9W3H8, B0SW62, B0SY51, B2HJU9, B2JQW2, B4RF90, B7KWT4, B8H1Q3, C1AF48, C7TMK0, D4Z2G1, I6YC03, I6YGS0, O05235, O05691, O31158, O31168, O32234, P0A3G2, P0A3G3, P0A3G4, P0DO68, P0DO69, P0DO70, P19076, P22862, P23106, P25026, P27652, P29715, P34913, P34914, P49323, P59336

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	29
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1624 predictions. Top by Δscore:

Variant	Effect	Δscore
3:51975200:GCCCG:G	donor_gain	1.0000
3:51975201:CCCGG:C	donor_loss	1.0000
3:51975202:CCGGT:C	donor_loss	1.0000
3:51975203:CGGT:C	donor_loss	1.0000
3:51975204:GGT:G	donor_loss	1.0000
3:51975205:G:GG	donor_gain	1.0000
3:51975206:T:A	donor_loss	1.0000
3:51977869:A:AG	acceptor_gain	1.0000
3:51977869:A:C	acceptor_loss	1.0000
3:51977870:G:A	acceptor_loss	1.0000
3:51977870:G:GA	acceptor_gain	1.0000
3:51977870:G:GG	acceptor_gain	1.0000
3:51977870:GACT:G	acceptor_gain	1.0000
3:51978257:AG:A	acceptor_gain	1.0000
3:51978258:GG:G	acceptor_gain	1.0000
3:51978372:CAGGT:C	donor_loss	1.0000
3:51978374:GGT:G	donor_loss	1.0000
3:51978375:GTGA:G	donor_loss	1.0000
3:51978375:GTGAG:G	donor_loss	1.0000
3:51978376:T:G	donor_loss	1.0000
3:51980388:CCTA:C	acceptor_loss	1.0000
3:51980390:TA:T	acceptor_loss	1.0000
3:51980391:A:T	acceptor_loss	1.0000
3:51980392:G:GT	acceptor_loss	1.0000
3:51980834:A:AG	acceptor_gain	1.0000
3:51980835:G:GG	acceptor_gain	1.0000
3:51980932:C:G	donor_gain	1.0000
3:51969604:GT:G	acceptor_gain	0.9900
3:51969606:C:CC	acceptor_gain	0.9900
3:51969606:C:CG	acceptor_loss	0.9900

AlphaMissense

1345 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:51970069:A:C	S109R	0.997
3:51970069:A:T	S109R	0.997
3:51970071:T:G	S109R	0.997
3:51971542:G:C	F43L	0.994
3:51971542:G:T	F43L	0.994
3:51971544:A:G	F43L	0.994
3:51970057:A:C	S113R	0.991
3:51970057:A:T	S113R	0.991
3:51970059:T:G	S113R	0.991
3:51969467:A:G	W198R	0.989
3:51969467:A:T	W198R	0.989
3:51969495:G:C	H188Q	0.989
3:51969495:G:T	H188Q	0.989
3:51969489:A:C	C190W	0.988
3:51969497:G:C	H188D	0.988
3:51971529:A:G	W48R	0.987
3:51971529:A:T	W48R	0.987
3:51971527:C:A	W48C	0.986
3:51971527:C:G	W48C	0.986
3:51969491:A:G	C190R	0.984
3:51970058:C:A	S113I	0.982
3:51969583:C:A	G159V	0.980
3:51969583:C:T	G159E	0.980
3:51969575:C:G	D162H	0.979
3:51969490:C:T	C190Y	0.977
3:51969989:G:T	P136H	0.977
3:51971556:G:C	H39D	0.977
3:51969497:G:T	H188N	0.976
3:51969444:G:C	F205L	0.975
3:51969444:G:T	F205L	0.975

dbSNP variants (sampled 300 via entrez): RS1000151826 (3:51972969 C>G), RS1000379596 (3:51974409 G>A), RS1000477725 (3:51974810 C>G,T), RS1000946519 (3:51974665 C>T), RS1001359207 (3:51969037 G>A), RS1001369210 (3:51968676 C>G), RS1002195326 (3:51968321 C>G,T), RS1002195796 (3:51975968 C>G), RS1002582799 (3:51976173 G>A), RS1002649064 (3:51975121 G>A,C), RS1002864717 (3:51971742 G>T), RS1002939167 (3:51976378 C>G), RS1003347508 (3:51972038 A>C), RS1003824561 (3:51971686 G>C), RS1005539270 (3:51972507 A>G)

Disease associations

OMIM: gene MIM:621040 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066303 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

41 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation, decreases expression	2
Plant Extracts	affects cotreatment, decreases expression	2
Smoke	decreases expression	2
Cyclosporine	decreases expression	2
aristolochic acid I	increases expression	1
dicrotophos	increases expression	1
bisphenol A	increases expression	1
sodium arsenite	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
entinostat	increases expression	1
7,3’-dihydroxy-4’-methoxyisoflavone	increases expression	1
nutlin 3	affects cotreatment, increases secretion	1
abrine	decreases expression	1
bisphenol S	increases expression	1
jinfukang	affects cotreatment, increases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	increases expression	1
bisphenol AF	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dactinomycin	increases secretion, affects cotreatment	1
Doxorubicin	decreases expression	1
Formaldehyde	decreases expression	1
Hydrogen Peroxide	affects expression	1
Ivermectin	decreases expression	1
Niclosamide	increases expression	1
Quercetin	increases expression	1
Rotenone	increases expression	1
Thiram	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5650814	Binding	Binding affinity to human ABHD14B incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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