ABHD14A

Summary

ABHD14A (abhydrolase domain containing 14A, HGNC:24538) is a protein-coding gene on chromosome 3p21.2, encoding Protein ABHD14A (Q9BUJ0). Possible role in granule neuron development.

Predicted to enable hydrolase activity. Predicted to be located in membrane. Predicted to be active in cytoplasm.

Source: NCBI Gene 25864 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 49 total — 4 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_015407

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24538
Approved symbol	ABHD14A
Name	abhydrolase domain containing 14A
Location	3p21.2
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP564O243, DORZ1
Ensembl gene	ENSG00000248487
Ensembl biotype	protein_coding
OMIM	618771
Entrez	25864

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 retained_intron

ENST00000273596, ENST00000474575, ENST00000491470, ENST00000494478, ENST00000497864, ENST00000874520, ENST00000874521, ENST00000874522, ENST00000952462

RefSeq mRNA: 1 — MANE Select: NM_015407 NM_015407

CCDS: CCDS2843

Canonical transcript exons

ENST00000273596 — 5 exons

Exon	Start	End
ENSE00001268952	51975064	51975204
ENSE00001894628	51980836	51981196
ENSE00002698899	51980393	51980628
ENSE00003684728	51977871	51978082
ENSE00003727578	51978259	51978374

Expression profiles

Bgee: expression breadth ubiquitous, 280 present calls, max score 96.49.

FANTOM5 (CAGE): breadth broad, TPM avg 0.5222 / max 48.3036, expressed in 282 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
36798	13.3952	1742
36799	4.6351	1483
36796	0.4798	262
36797	0.0424	17

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	96.49	gold quality
cerebellar hemisphere	UBERON:0002245	96.38	gold quality
cerebellar cortex	UBERON:0002129	96.36	gold quality
cerebellum	UBERON:0002037	95.73	gold quality
prefrontal cortex	UBERON:0000451	95.30	gold quality
right frontal lobe	UBERON:0002810	95.06	gold quality
Brodmann (1909) area 9	UBERON:0013540	94.55	gold quality
cingulate cortex	UBERON:0003027	94.31	gold quality
anterior cingulate cortex	UBERON:0009835	94.25	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	93.78	gold quality
right adrenal gland	UBERON:0001233	93.66	gold quality
left adrenal gland cortex	UBERON:0035825	93.65	gold quality
nucleus accumbens	UBERON:0001882	93.63	gold quality
left adrenal gland	UBERON:0001234	93.56	gold quality
right adrenal gland cortex	UBERON:0035827	93.48	gold quality
amygdala	UBERON:0001876	93.40	gold quality
putamen	UBERON:0001874	93.37	gold quality
frontal cortex	UBERON:0001870	93.33	gold quality
caudate nucleus	UBERON:0001873	93.33	gold quality
pituitary gland	UBERON:0000007	93.21	gold quality
hypothalamus	UBERON:0001898	93.19	gold quality
adenohypophysis	UBERON:0002196	93.15	gold quality
neocortex	UBERON:0001950	93.12	gold quality
adrenal cortex	UBERON:0001235	93.06	gold quality
paraflocculus	UBERON:0005351	93.04	gold quality
hindlimb stylopod muscle	UBERON:0004252	92.97	gold quality
apex of heart	UBERON:0002098	92.38	gold quality
brain	UBERON:0000955	92.10	gold quality
cerebral cortex	UBERON:0000956	92.09	gold quality
central nervous system	UBERON:0001017	92.06	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-CURD-112	yes	1801.05
E-MTAB-9543	yes	11.33
E-ANND-3	yes	8.65

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ZIC1

miRNA regulators (miRDB)

11 targeting ABHD14A, 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-143-3P	99.49	69.05	1457
HSA-MIR-4770	99.49	69.09	1451
HSA-MIR-4677-3P	99.49	67.91	1246
HSA-MIR-203A-3P	99.49	70.56	2806
HSA-MIR-6088	99.29	68.45	1284
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-1286	99.09	66.23	1046
HSA-MIR-5701	98.97	69.54	1502
HSA-MIR-7113-3P	98.75	65.71	1120
HSA-MIR-599	98.32	66.99	1037

Literature-anchored findings (GeneRIF, showing 1)

• Identification and characterization of Mouse Dorz1, along with sequence comparison to a similar protein in human. (PMID:14667578)

Cross-species orthologs

16 orthologs

Organism	Symbol	Gene ID
danio_rerio	abhd14a	ENSDARG00000058367
mus_musculus	Abhd14a	ENSMUSG00000042210
rattus_norvegicus	Abhd14a	ENSRNOG00000011936
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), ABHD14B (ENSG00000114779), EPHX2 (ENSG00000120915), ABHD8 (ENSG00000127220), BPHL (ENSG00000137274), ABHD6 (ENSG00000163686), EPHX4 (ENSG00000172031), SERHL2 (ENSG00000183569)

Protein

Protein identifiers

Protein ABHD14A — Q9BUJ0 (reviewed: Q9BUJ0)

Alternative names: Alpha/beta hydrolase domain-containing protein 14A

All UniProt accessions (4): C9IYJ8, C9J7W8, C9JMW6, Q9BUJ0

UniProt curated annotations — full annotation on UniProt →

Function. Possible role in granule neuron development.

Subcellular location. Cytoplasm. Membrane.

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

RefSeq proteins (1): NP_056222* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000073	AB_hydrolase_1	Domain
IPR029058	AB_hydrolase_fold	Homologous_superfamily

Pfam: PF12697

UniProt features (10 total): active site 3, glycosylation site 2, sequence variant 2, chain 1, transmembrane region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BUJ0-F1	86.76	0.72

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): 171 (charge relay system); 222 (charge relay system); 249 (charge relay system)

Glycosylation sites (2): 67, 201

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 133 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, TGCGCANK_UNKNOWN, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, CATTTCA_MIR203, HOFFMANN_SMALL_PRE_BII_TO_IMMATURE_B_LYMPHOCYTE_UP, RFX1_02, RICKMAN_TUMOR_DIFFERENTIATED_MODERATELY_VS_POORLY_UP, CUI_TCF21_TARGETS_2_UP, CONCANNON_APOPTOSIS_BY_EPOXOMICIN_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, LIU_SOX4_TARGETS_DN, CHESLER_BRAIN_QTL_CIS, SANSOM_APC_MYC_TARGETS, BLALOCK_ALZHEIMERS_DISEASE_DN, MODULE_13

GO Biological Process (0):

GO Molecular Function (1): hydrolase activity (GO:0016787)

GO Cellular Component (2): cytoplasm (GO:0005737), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
catalytic activity	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1392 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABHD14A	ABHD16B	Q9H3Z7	620
ABHD14A	ABHD12B	Q7Z5M8	596
ABHD14A	ABHD13	Q7L211	552
ABHD14A	ABHD8	Q96I13	532
ABHD14A	ABHD15	Q6UXT9	501
ABHD14A	ABHD10	Q9NUJ1	500
ABHD14A	ABHD18	Q0P651	475
ABHD14A	ABHD1	Q96SE0	475
ABHD14A	ABHD2	P08910	469
ABHD14A	IQCF5	A8MTL0	463
ABHD14A	ABHD16A	O95870	461
ABHD14A	ABHD11	Q8NFV4	452
ABHD14A	CPLX4	Q7Z7G2	436
ABHD14A	BPHL	Q86WA6	427
ABHD14A	SERPINE3	A8MV23	422

IntAct

50 interactions, top by confidence:

A	B	Type	Score
SLC39A5	TMEM223	psi-mi:“MI:0914”(association)	0.530
ADGRG5	KLRG2	psi-mi:“MI:0914”(association)	0.530
A4GNT	POTEF	psi-mi:“MI:0914”(association)	0.530
IL13RA2	METTL15	psi-mi:“MI:0914”(association)	0.530
LIPG	NRP1	psi-mi:“MI:0914”(association)	0.530
CD1E	SUSD5	psi-mi:“MI:0914”(association)	0.530
TCTN2	TPST2	psi-mi:“MI:0914”(association)	0.530
A4GALT	CANX	psi-mi:“MI:0914”(association)	0.530
GABRG2	GPAA1	psi-mi:“MI:0914”(association)	0.530
ABHD14A	TMEM259	psi-mi:“MI:0914”(association)	0.530
ABHD14A	F2RL1	psi-mi:“MI:0915”(physical association)	0.370
ABHD14A	GPR35	psi-mi:“MI:0915”(physical association)	0.370
KERA	VWA8	psi-mi:“MI:0914”(association)	0.350
SLC39A12	POM121C	psi-mi:“MI:0914”(association)	0.350
PTCH1	PLXNB2	psi-mi:“MI:0914”(association)	0.350
SCARA3	DEGS1	psi-mi:“MI:0914”(association)	0.350
HDAC10	GNPAT	psi-mi:“MI:0914”(association)	0.350
GABRG2	B4GALT5	psi-mi:“MI:0914”(association)	0.350
HTR3A	GPAA1	psi-mi:“MI:0914”(association)	0.350
GGT7	ENTPD6	psi-mi:“MI:0914”(association)	0.350
CEACAM21	MET	psi-mi:“MI:0914”(association)	0.350
rep	B4GALT3	psi-mi:“MI:0914”(association)	0.350
CHRNA4	TMEM223	psi-mi:“MI:0914”(association)	0.350
TCTN2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
CHRNB2	TMEM131L	psi-mi:“MI:0914”(association)	0.350

BioGRID (86): ABHD14A (Affinity Capture-MS), ABHD14A (Affinity Capture-MS), ABHD14A (Affinity Capture-MS), ABHD14A (Affinity Capture-MS), ABHD14A (Affinity Capture-MS), ABHD14A (Affinity Capture-MS), ABHD14A (Affinity Capture-MS), ABHD14A (Affinity Capture-MS), ABHD14A (Affinity Capture-MS), ABHD14A (Affinity Capture-MS), ABHD14A (Affinity Capture-MS), ABHD14A (Affinity Capture-MS), ABHD14A (Affinity Capture-MS), ABHD14A (Affinity Capture-MS), ABHD14A (Affinity Capture-MS)

ESM2 similar proteins: A6H603, A6QR56, B2GUP8, B2RX12, O15438, O55230, O70595, O77667, O88269, O88563, O95255, P21958, P36370, P36371, P36372, P54777, Q03518, Q03519, Q28433, Q2HJ51, Q49KI5, Q571I9, Q5RFQ9, Q5RKI8, Q5T3U5, Q643R3, Q6NVG1, Q6ZPS2, Q717C1, Q7RTX0, Q7TNJ2, Q865R1, Q8IZ83, Q8IZY2, Q8R4P9, Q91V24, Q95KI5, Q96JT2, Q9BUJ0, Q9CTG6

Diamond homologs: A7YY28, Q1LV46, Q5I0C4, Q5R816, Q6DGG1, Q8VCR7, Q922Q6, Q96IU4, Q9BUJ0, A0A242M8J4, A8IAD8, B1M5I5, C5CN82, C7CM33, I6YC03, O05235, O05691, O06734, O31158, O31168, O52866, P22862, P25026, P29715, P33912, P34913, P49323, P66778, P80299, P95276, P9WGS2, P9WGS3, P9WNH0, P9WNH1, Q07646, Q55921, Q6IE26, Q6P5P5, Q6Q2C2, Q83WC8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	1
Uncertain significance	40
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	Pathogenic
3391879	GRCh37/hg19 3p21.2-21.1(chr3:51962412-53969609)x1	Pathogenic
4682581	GRCh37/hg19 3p26.3-14.3(chr3:2263690-55016039)x3	Pathogenic
625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	Pathogenic
155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	Likely pathogenic

SpliceAI

1058 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
3:51971455:AGTAC:A	donor_loss	0.9900
3:51971456:GTA:G	donor_loss	0.9900
3:51971457:TAC:T	donor_loss	0.9900

AlphaMissense

1705 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:51980500:A:C	S169R	0.993
3:51980502:C:A	S169R	0.993
3:51980502:C:G	S169R	0.993
3:51978307:G:C	W110C	0.990
3:51978307:G:T	W110C	0.990
3:51978305:T:A	W110R	0.983
3:51978305:T:C	W110R	0.983
3:51980512:A:C	S173R	0.981
3:51980514:T:A	S173R	0.981
3:51980514:T:G	S173R	0.981
3:51980998:T:C	F266L	0.979
3:51981000:C:A	F266L	0.979
3:51981000:C:G	F266L	0.979
3:51980977:T:C	F259L	0.978
3:51980979:C:A	F259L	0.978
3:51980979:C:G	F259L	0.978
3:51978290:T:C	F105L	0.976
3:51978292:T:A	F105L	0.976
3:51978292:T:G	F105L	0.976
3:51980570:T:A	V192E	0.972
3:51978052:G:C	R84P	0.966
3:51978360:C:A	A128D	0.966
3:51980846:T:C	L215P	0.965
3:51978278:C:G	H101D	0.964
3:51980566:T:C	F191L	0.963
3:51980568:T:A	F191L	0.963
3:51980568:T:G	F191L	0.963
3:51980953:T:C	C251R	0.963
3:51980955:T:G	C251W	0.959
3:51980978:T:C	F259S	0.958

dbSNP variants (sampled 300 via entrez): RS1000379596 (3:51974409 G>A), RS1000403053 (3:51980613 A>G), RS1000477725 (3:51974810 C>G,T), RS1000946519 (3:51974665 C>T), RS1002195796 (3:51975968 C>G), RS1002357598 (3:51981135 G>C), RS1002582799 (3:51976173 G>A), RS1002649064 (3:51975121 G>A,C), RS1002939167 (3:51976378 C>G), RS1003712849 (3:51977183 C>T), RS1005276941 (3:51976666 C>T), RS1005605574 (3:51978362 C>G,T), RS1005614962 (3:51976337 C>T), RS1005926834 (3:51973702 C>G), RS1005937485 (3:51980100 T>A)

Disease associations

OMIM: gene MIM:618771 | 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: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression	8
mercuric bromide	decreases expression, affects cotreatment	2
(+)-JQ1 compound	decreases expression	2
Panobinostat	affects cotreatment, decreases expression	2
Phenylmercuric Acetate	decreases expression, affects cotreatment	2
Cyclosporine	decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
sodium arsenite	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	decreases methylation	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Air Pollutants, Occupational	affects expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dexamethasone	increases expression	1
Diazinon	increases methylation	1
Doxorubicin	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Vitamin E	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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