ABHD12

Summary

ABHD12 (abhydrolase domain containing 12, lysophospholipase, HGNC:15868) is a protein-coding gene on chromosome 20p11.21, encoding Lysophosphatidylserine lipase ABHD12 (Q8N2K0). Lysophosphatidylserine (LPS) lipase that mediates the hydrolysis of lysophosphatidylserine, a class of signaling lipids that regulates immunological and neurological processes.

This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.

Source: NCBI Gene 26090 — RefSeq curated summary.

At a glance

• Gene–disease (curated): PHARC syndrome (Definitive, ClinGen)
• GWAS associations: 11
• Clinical variants (ClinVar): 640 total — 40 pathogenic, 20 likely-pathogenic
• Phenotypes (HPO): 27
• Druggable target: yes — 2 molecules with ChEMBL bioactivity
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_001042472

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15868
Approved symbol	ABHD12
Name	abhydrolase domain containing 12, lysophospholipase
Location	20p11.21
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A
Ensembl gene	ENSG00000100997
Ensembl biotype	protein_coding
OMIM	613599
Entrez	26090

Gene structure

Transcript identifiers

Ensembl transcripts: 33 — 26 protein_coding, 5 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000339157, ENST00000376542, ENST00000450393, ENST00000461204, ENST00000465694, ENST00000471287, ENST00000481556, ENST00000491682, ENST00000576316, ENST00000671784, ENST00000671858, ENST00000672001, ENST00000672114, ENST00000672258, ENST00000672331, ENST00000672358, ENST00000672406, ENST00000672566, ENST00000672596, ENST00000672871, ENST00000673094, ENST00000673121, ENST00000673227, ENST00000673524, ENST00000851164, ENST00000851165, ENST00000851166, ENST00000938980, ENST00000938981, ENST00000938982, ENST00000969644, ENST00000969645, ENST00000969646

RefSeq mRNA: 2 — MANE Select: NM_001042472 NM_001042472, NM_015600

CCDS: CCDS13172, CCDS42857

Canonical transcript exons

ENST00000339157 — 13 exons

Exon	Start	End
ENSE00001470777	25300214	25300884
ENSE00001955112	25390513	25390835
ENSE00003017803	25303550	25303628
ENSE00003040617	25314925	25314970
ENSE00003042359	25302219	25302346
ENSE00003213693	25317048	25317078
ENSE00003493183	25309446	25309575
ENSE00003531561	25323325	25323430
ENSE00003554654	25320199	25320318
ENSE00003600111	25339227	25339351
ENSE00003619140	25307966	25308045
ENSE00003786189	25306833	25306915
ENSE00003791599	25308457	25308494

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 98.59.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 39.1630 / max 576.7269, expressed in 1822 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
186797	38.1913	1822
186790	0.2482	131
186793	0.2327	67
186795	0.1944	50
186792	0.1506	62
186794	0.0781	41
186791	0.0676	27

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
C1 segment of cervical spinal cord	UBERON:0006469	98.59	gold quality
prefrontal cortex	UBERON:0000451	98.42	gold quality
spinal cord	UBERON:0002240	98.37	gold quality
left lobe of thyroid gland	UBERON:0001120	98.19	gold quality
body of pancreas	UBERON:0001150	98.19	gold quality
right lobe of thyroid gland	UBERON:0001119	98.17	gold quality
right frontal lobe	UBERON:0002810	97.99	gold quality
thyroid gland	UBERON:0002046	97.91	gold quality
lower esophagus mucosa	UBERON:0035834	97.90	gold quality
anterior cingulate cortex	UBERON:0009835	97.85	gold quality
nucleus accumbens	UBERON:0001882	97.77	gold quality
Brodmann (1909) area 9	UBERON:0013540	97.77	gold quality
putamen	UBERON:0001874	97.66	gold quality
hypothalamus	UBERON:0001898	97.47	gold quality
substantia nigra	UBERON:0002038	97.41	gold quality
lateral nuclear group of thalamus	UBERON:0002736	97.35	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.28	gold quality
tibial nerve	UBERON:0001323	97.27	gold quality
caudate nucleus	UBERON:0001873	97.27	gold quality
cerebellar hemisphere	UBERON:0002245	97.24	gold quality
cerebellar cortex	UBERON:0002129	97.23	gold quality
pancreas	UBERON:0001264	97.18	gold quality
amygdala	UBERON:0001876	97.18	gold quality
midbrain	UBERON:0001891	97.09	gold quality
pons	UBERON:0000988	97.03	gold quality
frontal cortex	UBERON:0001870	97.03	gold quality
stromal cell of endometrium	CL:0002255	97.02	gold quality
islet of Langerhans	UBERON:0000006	97.02	gold quality
ileal mucosa	UBERON:0000331	97.02	gold quality
neocortex	UBERON:0001950	96.70	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.13

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

22 targeting ABHD12, 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-205-3P	99.92	69.92	3165
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-4528	99.18	69.77	1936
HSA-MIR-4717-3P	99.06	66.34	1072
HSA-MIR-412-3P	98.86	66.89	712
HSA-MIR-6754-3P	98.84	66.60	889
HSA-MIR-1301-3P	98.64	68.27	1071
HSA-MIR-5047	98.64	68.62	1035
HSA-MIR-4290	98.51	65.17	907
HSA-MIR-7852-3P	98.37	67.98	823
HSA-MIR-6882-3P	98.23	67.01	1119
HSA-MIR-7843-5P	98.12	65.26	1421
HSA-MIR-4632-5P	97.82	65.38	1470
HSA-MIR-4660	97.79	67.44	1328
HSA-MIR-22-5P	97.67	68.92	1355
HSA-MIR-585-5P	97.54	69.02	955
HSA-MIR-4288	97.11	67.23	1636
HSA-MIR-4703-3P	96.68	68.61	545

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 16)

• Mutations in the ABHD12 gene cause polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract disease. (PMID:20797687)
• After the identification of the ABHD12 mutation in this family, one patient underwent neurological examination which revealed ataxia, but no polyneuropathy (PMID:22938382)
• Data show that the three hydrolases are genuine MAG lipases; medium-chain saturated MAGs were the best substrates for hABHD6 and hMAGL, whereas hABHD12 preferred the 1 (3)- and 2-isomers of arachidonoylglycerol. (PMID:22969151)
• ABHD12 mutations are not a frequent cause of ataxia at least in Southern Italy (PMID:23490117)
• This is the first report of compound heterozygosity in PHARC and the first study to describe how a mutation might affect ABHD12 expression and function. (PMID:24027063)
• Null mutations in the ABHD12 gene lead to PHARC syndrome, a neurodegenerative disease including polyneuropathy, hearing loss, cerebellar ataxia, RP, and early-onset cataract. Our study allowed us to report 5 new mutations in ABHD12. (PMID:24697911)
• ABHD12 mutation in 2 PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract)patients who suffered from deaf-blindness and dysfunctional central and peripheral nervous systems. (PMID:25743180)
• Study identified a new missense mutation, p.T253R, in ABHD12, which is functionally linked to the neurodegenerative disease PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract), as demonstrated by its deactivation of monoacylglycerol lipase activity and inability to rescue zebrafish abhd12 knockdown phenotypes. (PMID:27890673)
• This study presented the various mutation of ABHD12 responsible for PHARC syndrome. (PMID:28448692)
• ABHD12 is enriched on the endoplasmic reticulum membrane, where most of the very-long-chain fatty acids are biosynthesized in cells. (PMID:30237167)
• Findings in Usher Syndrome predicted the potential function of this gene in the development of hearing and vision loss, particularly with regard to impaired signal transmission, and identified a novel nonsense variant to expand the variant spectrum in ABHD12. (PMID:30974196)
• ABHD12 plays a crucial role in cell proliferation, migration, and invasion of breast cancer cells. (PMID:32366405)
• Mapping the Neuroanatomy of ABHD16A, ABHD12, and Lysophosphatidylserines Provides New Insights into the Pathophysiology of the Human Neurological Disorder PHARC. (PMID:32462874)
• Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome. (PMID:34223797)
• The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective. (PMID:34573385)
• Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants. (PMID:39123271)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	abhd12	ENSDARG00000071004
mus_musculus	Abhd12	ENSMUSG00000032046
rattus_norvegicus	Abhd12	ENSRNOG00000036934
caenorhabditis_elegans		WBGENE00008497
caenorhabditis_elegans		WBGENE00008498

Paralogs (7): ABHD17B (ENSG00000107362), ABHD17A (ENSG00000129968), ABHD12B (ENSG00000131969), ABHD17C (ENSG00000136379), ABHD13 (ENSG00000139826), ABHD16B (ENSG00000183260), ABHD16A (ENSG00000204427)

Protein

Protein identifiers

Lysophosphatidylserine lipase ABHD12 — Q8N2K0 (reviewed: Q8N2K0)

Alternative names: 2-arachidonoylglycerol hydrolase ABHD12, Abhydrolase domain-containing protein 12, Monoacylglycerol lipase ABHD12, Oxidized phosphatidylserine lipase ABHD12

All UniProt accessions (21): Q8N2K0, A0A5F9ZGT4, A0A5F9ZGW7, A0A5F9ZGZ9, A0A5F9ZH28, A0A5F9ZH49, A0A5F9ZH71, A0A5F9ZHB5, A0A5F9ZHE8, A0A5F9ZHF0, A0A5F9ZHG5, A0A5F9ZHH2, A0A5F9ZHM3, A0A5F9ZHQ0, A0A5F9ZHQ8, I3L1V0, I3L206, I3L294, I3L380, I3L440, Q5T712

UniProt curated annotations — full annotation on UniProt →

Function. Lysophosphatidylserine (LPS) lipase that mediates the hydrolysis of lysophosphatidylserine, a class of signaling lipids that regulates immunological and neurological processes. Represents a major lysophosphatidylserine lipase in the brain, thereby playing a key role in the central nervous system. Also able to hydrolyze oxidized phosphatidylserine; oxidized phosphatidylserine is produced in response to severe inflammatory stress and constitutes a proapoptotic ’eat me’ signal. Also has monoacylglycerol (MAG) lipase activity: hydrolyzes 2-arachidonoylglycerol (2-AG), thereby acting as a regulator of endocannabinoid signaling pathways. Has a strong preference for very-long-chain lipid substrates; substrate specificity is likely due to improved catalysis and not improved substrate binding.

Subcellular location. Endoplasmic reticulum membrane.

Post-translational modifications. Glycosylated; glycosylation is required for optimal activity.

Disease relevance. Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) [MIM:612674] A slowly progressive neurologic disorder with a variable phenotype resembling Refsum disease. Clinical features include sensorineural hearing loss, visual problems related to cataracts, retinitis pigmentosa, pes cavus, ataxic and/or spastic gait disturbances with a progressive sensorimotor peripheral neuropathy. Other features include hyporeflexia, hyperreflexia, extensor plantar responses. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Selectively inhibited by DO264 (N-3-pyridyl-N’-(1-[3-chloro-4-{2-chloro-4-(trifluoromethoxy)phenoxy}pyridine-2-yl]piperidin-4-yl)thiourea). Reversibly inhibited by triterpenoids, but with rather low potency.

Similarity. Belongs to the serine esterase family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8N2K0-1	1	yes
Q8N2K0-2	2
Q8N2K0-3	3

RefSeq proteins (2): NP_001035937, NP_056415 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000073	AB_hydrolase_1	Domain
IPR029058	AB_hydrolase_fold	Homologous_superfamily

Pfam: PF00561

Catalyzed reactions (Rhea), 12 shown:

• 2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-glycerol + H2O = glycerol + (5Z,8Z,11Z,14Z)-eicosatetraenoate + H(+) (RHEA:26132)
• 1-octadecanoylglycerol + H2O = octadecanoate + glycerol + H(+) (RHEA:38363)
• 1-(9Z-octadecenoyl)-glycerol + H2O = glycerol + (9Z)-octadecenoate + H(+) (RHEA:38487)
• 2-(9Z-octadecenoyl)-glycerol + H2O = glycerol + (9Z)-octadecenoate + H(+) (RHEA:38491)
• 1-hexadecanoylglycerol + H2O = glycerol + hexadecanoate + H(+) (RHEA:39959)
• 2-hexadecanoylglycerol + H2O = glycerol + hexadecanoate + H(+) (RHEA:39963)
• 1-(9Z-octadecenoyl)-sn-glycero-3-phospho-L-serine + H2O = sn-glycero-3-phospho-L-serine + (9Z)-octadecenoate + H(+) (RHEA:40499)
• 1-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + H2O = sn-glycero-3-phosphoethanolamine + (9Z)-octadecenoate + H(+) (RHEA:40895)
• 1-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + H2O = 1-(9Z-octadecenoyl)-sn-glycerol + phosphocholine + H(+) (RHEA:41091)
• 1-tetradecanoylglycerol + H2O = tetradecanoate + glycerol + H(+) (RHEA:44312)
• 1-dodecanoylglycerol + H2O = dodecanoate + glycerol + H(+) (RHEA:44316)
• 1-decanoylglycerol + H2O = decanoate + glycerol + H(+) (RHEA:44320)

UniProt features (24 total): sequence variant 9, mutagenesis site 3, active site 3, topological domain 2, sequence conflict 2, splice variant 2, chain 1, transmembrane region 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N2K0-F1	85.60	0.65

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): 246 (nucleophile); 333 (charge relay system); 372 (charge relay system)

Glycosylation sites (1): 123

Mutagenesis-validated functional residues (3):

Position	Phenotype
246	loss of lipase activity.
333	loss of 2-arachidonoyglycerol hydrolase activity.
372	loss of 2-arachidonoyglycerol hydrolase activity.

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-426048	Arachidonate production from DAG
R-HSA-109582	Hemostasis
R-HSA-114508	Effects of PIP2 hydrolysis
R-HSA-162582	Signal Transduction
R-HSA-372790	Signaling by GPCR
R-HSA-388396	GPCR downstream signalling
R-HSA-416476	G alpha (q) signalling events
R-HSA-76002	Platelet activation, signaling and aggregation

MSigDB gene sets: 251 (showing top): GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_BEHAVIOR, GOBP_INFLAMMATORY_RESPONSE, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, ZHAN_MULTIPLE_MYELOMA_MF_UP, GOBP_ADULT_BEHAVIOR, GOBP_MODIFIED_AMINO_ACID_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_DEACYLATION, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ADULT_LOCOMOTORY_BEHAVIOR, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, REACTOME_EFFECTS_OF_PIP2_HYDROLYSIS, GOBP_NEUTRAL_LIPID_CATABOLIC_PROCESS

GO Biological Process (11): phosphatidylserine catabolic process (GO:0006660), adult walking behavior (GO:0007628), phospholipid catabolic process (GO:0009395), response to auditory stimulus (GO:0010996), arachidonate metabolic process (GO:0019369), acylglycerol catabolic process (GO:0046464), glycerophospholipid catabolic process (GO:0046475), regulation of inflammatory response (GO:0050727), monoacylglycerol catabolic process (GO:0052651), lipid metabolic process (GO:0006629), macromolecule depalmitoylation (GO:0098734)

GO Molecular Function (6): glycerophospholipase activity (GO:0004620), phosphatidylcholine lysophospholipase A1 activity (GO:0004622), palmitoyl-(protein) hydrolase activity (GO:0008474), monoacylglycerol lipase activity (GO:0047372), phosphatidylserine lysophospholipase A1 activity (GO:0120560), hydrolase activity (GO:0016787)

GO Cellular Component (7): endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), membrane (GO:0016020), AMPA glutamate receptor complex (GO:0032281), dendrite cytoplasm (GO:0032839), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
Effects of PIP2 hydrolysis	1
G alpha (q) signalling events	1
Platelet activation, signaling and aggregation	1
Signal Transduction	1
Signaling by GPCR	1
GPCR downstream signalling	1
Hemostasis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
glycerolipid catabolic process	2
lysophospholipase A1 activity	2
cellular anatomical structure	2
phosphatidylserine metabolic process	1
modified amino acid catabolic process	1
glycerophospholipid catabolic process	1
adult locomotory behavior	1
walking behavior	1
phospholipid metabolic process	1
lipid catabolic process	1
organophosphate catabolic process	1
response to mechanical stimulus	1
long-chain fatty acid metabolic process	1
icosanoid metabolic process	1
unsaturated fatty acid metabolic process	1
olefinic compound metabolic process	1
acylglycerol metabolic process	1
neutral lipid catabolic process	1
glycerophospholipid metabolic process	1
phospholipid catabolic process	1
inflammatory response	1
regulation of defense response	1
regulation of response to external stimulus	1
monoacylglycerol metabolic process	1
acylglycerol catabolic process	1
primary metabolic process	1
macromolecule deacylation	1
phospholipase activity	1
thiolester hydrolase activity	1
palmitoyl hydrolase activity	1
catalytic activity, acting on a protein	1
lipase activity	1
carboxylic ester hydrolase activity	1
catalytic activity	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1
ionotropic glutamate receptor complex	1

Protein interactions and networks

STRING

1026 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABHD12	ABHD6	Q9BV23	918
ABHD12	ABHD16A	O95870	852
ABHD12	MGLL	Q99685	832
ABHD12	FAAH	O00519	823
ABHD12	NAPEPLD	Q6IQ20	800
ABHD12	DAGLA	Q9Y4D2	783
ABHD12	DAGLB	Q8NCG7	744
ABHD12	ABHD4	Q8TB40	739
ABHD12	GPR55	Q9Y2T6	676
ABHD12	NAAA	Q02083	615
ABHD12	GDE1	Q9NZC3	610
ABHD12	CNR1	P21554	598
ABHD12	ABHD3	Q8WU67	579
ABHD12	GPR18	Q14330	578
ABHD12	FAAH2	Q6GMR7	570

IntAct

115 interactions, top by confidence:

A	B	Type	Score
TRDN	TMEM223	psi-mi:“MI:0914”(association)	0.640
ABHD12	GPR182	psi-mi:“MI:0915”(physical association)	0.550
CXCR4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
SLC39A4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
PEX19	FAM20B	psi-mi:“MI:0914”(association)	0.530
NCEH1	CLGN	psi-mi:“MI:0914”(association)	0.530
PEX19	MYO1D	psi-mi:“MI:0914”(association)	0.530
ECEL1	CLGN	psi-mi:“MI:0914”(association)	0.530
SLC6A8	ILVBL	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
	ESYT2	psi-mi:“MI:0914”(association)	0.350
E5	ESYT2	psi-mi:“MI:0914”(association)	0.350
	PGRMC1	psi-mi:“MI:0914”(association)	0.350
	HAX1	psi-mi:“MI:0914”(association)	0.350
BVLF1	VWA8	psi-mi:“MI:0914”(association)	0.350
	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
MAD2L2		psi-mi:“MI:0914”(association)	0.350
	AP3B1	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
rep	CEBPZOS	psi-mi:“MI:0914”(association)	0.350
ATG2A	ESYT2	psi-mi:“MI:0914”(association)	0.350
IRAK1	ILVBL	psi-mi:“MI:0914”(association)	0.350
STK32C	ILVBL	psi-mi:“MI:0914”(association)	0.350

BioGRID (155): ABHD12 (Affinity Capture-MS), ABHD12 (Affinity Capture-MS), DPP9 (Affinity Capture-MS), ABHD12 (Proximity Label-MS), ABHD12 (Proximity Label-MS), ABHD12 (Affinity Capture-MS), DPP9 (Affinity Capture-MS), ABHD12 (Affinity Capture-MS), ABHD12 (Affinity Capture-MS), ABHD12 (Affinity Capture-MS), ABHD12 (Affinity Capture-RNA), ABHD12 (Affinity Capture-MS), ABHD12 (Affinity Capture-MS), ABHD12 (Affinity Capture-MS), ABHD12 (Proximity Label-MS)

ESM2 similar proteins: A0A2R8QFQ6, A0A2R8RWN9, D3Z7P3, E9PV86, G3MWR8, O54865, O60907, O89050, O94925, P13264, P16068, P20595, P58058, Q02153, Q08211, Q12800, Q13042, Q14722, Q28141, Q28D01, Q3MHJ2, Q3ULA2, Q4R8H1, Q4ZHR9, Q5R874, Q5RB35, Q5SP67, Q5SRY7, Q5ZHN3, Q6DN14, Q7RTP6, Q7T2U9, Q7Z6J6, Q8BTG7, Q8C6G8, Q8CJ19, Q8K4Q0, Q8N122, Q8N2K0, Q8R349

Diamond homologs: B4F753, G2JHL6, O34705, P29368, P42840, P9WLC6, P9WLC7, Q08C93, Q08DW9, Q32LS6, Q4R766, Q5ZIN0, Q5ZJ01, Q5ZJL8, Q6AYT7, Q6DCC5, Q6DEY3, Q6IRP4, Q7Z5M8, Q80UX8, Q8N2K0, Q99390, Q99LR1, Q5E9H9, Q8XA81, Q8ZN39, P54069, Q7L211, Q8RXP6, A0A084R1K6, A5PKD9, B5DFK7, P0CU85, P77538, Q21221, Q2HJ19, Q5XIJ5, Q5ZJX1, Q6DD70, Q6GL10

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 132 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
R-HSA-425366	5	11.3×	8e-03

GO biological processes:

GO term	Partners	Fold	FDR
zinc ion transmembrane transport	5	32.8×	2e-04
intracellular zinc ion homeostasis	5	22.5×	6e-04
establishment of localization in cell	6	9.0×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	40
Likely pathogenic	20
Uncertain significance	274
Likely benign	213
Benign	48

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1072225	NC_000020.10:g.(?25371129)(25371339_?)del	Pathogenic
1072226	NC_000020.10:g.(?25295561)(25300954_?)del	Pathogenic
1073481	NM_001042472.3(ABHD12):c.316+2T>A	Pathogenic
1210006	NM_001042472.3(ABHD12):c.337_338del (p.Asp113fs)	Pathogenic
1322604	NM_001042472.3(ABHD12):c.1015C>T (p.Gln339Ter)	Pathogenic
1356753	NM_001042472.3(ABHD12):c.729G>A (p.Trp243Ter)	Pathogenic
1380411	NM_001042472.3(ABHD12):c.1122C>A (p.Tyr374Ter)	Pathogenic
1389869	NM_001042472.3(ABHD12):c.205_206del (p.Trp69fs)	Pathogenic
1429666	NM_001042472.3(ABHD12):c.738_748del (p.Leu247fs)	Pathogenic
143235	NM_001042472.3(ABHD12):c.1116C>G (p.His372Gln)	Pathogenic
143236	NM_001042472.3(ABHD12):c.477G>A (p.Trp159Ter)	Pathogenic
1433990	NM_001042472.3(ABHD12):c.784C>T (p.Arg262Ter)	Pathogenic
1441956	NM_001042472.3(ABHD12):c.1092_1093insA (p.His365fs)	Pathogenic
144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	Pathogenic
1451338	NM_001042472.3(ABHD12):c.1063C>T (p.Arg355Ter)	Pathogenic
1457527	NM_001042472.3(ABHD12):c.423G>A (p.Trp141Ter)	Pathogenic
1727244	NM_001042472.3(ABHD12):c.601dup (p.Val201fs)	Pathogenic
1965513	NM_001042472.3(ABHD12):c.809dup (p.Leu271fs)	Pathogenic
2037029	NM_001042472.3(ABHD12):c.347_348delinsG (p.Lys116fs)	Pathogenic
2129146	NM_001042472.3(ABHD12):c.126dup (p.Thr43fs)	Pathogenic
24	NM_001042472.3(ABHD12):c.337_338delinsTTT (p.Asp113fs)	Pathogenic
2423574	NC_000020.10:g.(?25300815)(25300974_?)del	Pathogenic
2423577	NC_000020.10:g.(?25290062)(25297734_?)del	Pathogenic
2423579	NC_000020.10:g.(?25295541)(25300974_?)del	Pathogenic
253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	Pathogenic
26	NM_001042472.3(ABHD12):c.846_852dup (p.His285Ter)	Pathogenic
27	NM_001042472.3(ABHD12):c.1054C>T (p.Arg352Ter)	Pathogenic
2787117	NM_001042472.3(ABHD12):c.78dup (p.Ala27fs)	Pathogenic
3389452	NM_001042472.3(ABHD12):c.605C>T (p.Thr202Ile)	Pathogenic
3601008	NM_001042472.3(ABHD12):c.690G>A (p.Trp230Ter)	Pathogenic

SpliceAI

3394 predictions. Top by Δscore:

Variant	Effect	Δscore
20:25295669:GG:G	donor_gain	1.0000
20:25295670:GG:G	donor_gain	1.0000
20:25296365:T:TA	acceptor_gain	1.0000
20:25296365:TGCA:T	acceptor_loss	1.0000
20:25296366:GCA:G	acceptor_loss	1.0000
20:25296367:CA:C	acceptor_loss	1.0000
20:25296368:A:AG	acceptor_gain	1.0000
20:25296368:AGAAC:A	acceptor_loss	1.0000
20:25296369:G:GA	acceptor_gain	1.0000
20:25296369:GA:G	acceptor_gain	1.0000
20:25296369:GAA:G	acceptor_gain	1.0000
20:25296369:GAAC:G	acceptor_gain	1.0000
20:25296369:GAACC:G	acceptor_gain	1.0000
20:25306831:A:AC	donor_gain	1.0000
20:25306832:C:CC	donor_gain	1.0000
20:25307960:A:AC	donor_gain	1.0000
20:25307961:C:CC	donor_gain	1.0000
20:25307962:TTGC:T	donor_gain	1.0000
20:25307963:TGCC:T	donor_gain	1.0000
20:25308490:CCACG:C	acceptor_gain	1.0000
20:25308491:CACG:C	acceptor_gain	1.0000
20:25308491:CACGC:C	acceptor_gain	1.0000
20:25308492:ACG:A	acceptor_gain	1.0000
20:25308492:ACGC:A	acceptor_loss	1.0000
20:25308493:CG:C	acceptor_gain	1.0000
20:25308493:CGC:C	acceptor_gain	1.0000
20:25308493:CGCT:C	acceptor_loss	1.0000
20:25308494:GCTA:G	acceptor_loss	1.0000
20:25308495:C:CC	acceptor_gain	1.0000
20:25308495:CT:C	acceptor_loss	1.0000

AlphaMissense

2593 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:25302262:G:C	H372D	1.000
20:25303581:T:A	D333V	1.000
20:25303582:C:G	D333H	1.000
20:25303594:G:C	H329D	1.000
20:25308008:G:C	F275L	1.000
20:25308008:G:T	F275L	1.000
20:25308010:A:G	F275L	1.000
20:25309446:C:T	G250D	1.000
20:25309452:C:A	G248V	1.000
20:25309452:C:T	G248D	1.000
20:25309453:C:A	G248C	1.000
20:25309453:C:G	G248R	1.000
20:25309455:A:G	L247P	1.000
20:25309459:A:G	S246P	1.000
20:25309464:C:T	G244D	1.000
20:25309465:C:G	G244R	1.000
20:25309468:A:G	W243R	1.000
20:25309468:A:T	W243R	1.000
20:25309573:A:G	W208R	1.000
20:25309573:A:T	W208R	1.000
20:25317078:T:A	R181S	1.000
20:25317078:T:G	R181S	1.000
20:25320214:C:A	G176V	1.000
20:25320214:C:T	G176E	1.000
20:25320215:C:A	G176W	1.000
20:25323326:A:G	W141R	1.000
20:25323326:A:T	W141R	1.000
20:25302260:G:C	H372Q	0.999
20:25302260:G:T	H372Q	0.999
20:25302262:G:A	H372Y	0.999

dbSNP variants (sampled 300 via entrez): RS1000027490 (20:25347729 T>A), RS1000038385 (20:25365425 T>A,G), RS1000076128 (20:25365933 A>G), RS1000094211 (20:25325043 A>C,T), RS1000096310 (20:25319866 T>A), RS1000142451 (20:25376427 C>T), RS1000167683 (20:25348326 C>G), RS1000184611 (20:25311983 C>T), RS1000185488 (20:25302906 C>T), RS1000208984 (20:25392154 A>G), RS1000222781 (20:25387535 G>C), RS1000245834 (20:25302441 C>G,T), RS1000288218 (20:25296611 G>A), RS1000327995 (20:25309213 C>T), RS1000352298 (20:25342571 C>T)

Disease associations

OMIM: gene MIM:613599 | disease phenotypes: MIM:612674

GenCC curated gene-disease

Disease	Classification	Inheritance
PHARC syndrome	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
PHARC syndrome	Definitive	AR

Mondo (7): PHARC syndrome (MONDO:0012984), hearing loss disorder (MONDO:0005365), optic atrophy (MONDO:0003608), cone dystrophy (MONDO:0000455), inherited retinal dystrophy (MONDO:0019118), breast ductal adenocarcinoma (MONDO:0005590), intellectual disability (MONDO:0001071)

Orphanet (5): Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome (Orphanet:171848), Progressive cone dystrophy (Orphanet:1871), OBSOLETE: Inherited retinal disorder (Orphanet:71862), OBSOLETE: Syndromic rod-cone dystrophy (Orphanet:98661), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

27 total (28 of 27 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000407	Sensorineural hearing impairment
HP:0000510	Rod-cone dystrophy
HP:0000518	Cataract
HP:0000523	Subcapsular cataract
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000762	Decreased nerve conduction velocity
HP:0001251	Ataxia
HP:0001257	Spasticity
HP:0001260	Dysarthria
HP:0001265	Hyporeflexia
HP:0001272	Cerebellar atrophy
HP:0001310	Dysmetria
HP:0001347	Hyperreflexia
HP:0001761	Pes cavus
HP:0001771	Achilles tendon contracture
HP:0002080	Intention tremor
HP:0002936	Distal sensory impairment
HP:0003487	Babinski sign
HP:0003621	Juvenile onset
HP:0003677	Slowly progressive
HP:0003693	Distal amyotrophy
HP:0007108	Demyelinating peripheral neuropathy
HP:0007141	Sensorimotor neuropathy
HP:0011462	Young adult onset
HP:0011463	Childhood onset
HP:0000556	Retinal dystrophy

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST001276_7	Liver enzyme levels (alkaline phosphatase)	7.000000e-10
GCST007429_82	Lung function (FVC)	2.000000e-06
GCST007430_7	Peak expiratory flow	1.000000e-06
GCST007431_136	Lung function (FEV1/FVC)	1.000000e-07
GCST007432_199	FEV1	1.000000e-12
GCST009652_32	Serum alkaline phosphatase levels	7.000000e-10
GCST010204_62	Low density lipoprotein cholesterol levels	6.000000e-09
GCST010703_48	Brain morphology (MOSTest)	1.000000e-08
GCST90002383_299	Hematocrit	2.000000e-09
GCST90002384_471	Hemoglobin	3.000000e-10
GCST90011900_6	Serum alkaline phosphatase levels	1.000000e-71

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004533	alkaline phosphatase measurement
EFO:0004312	vital capacity
EFO:0009718	peak expiratory flow
EFO:0004713	FEV/FVC ratio
EFO:0004314	forced expiratory volume
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004346	neuroimaging measurement
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement

MeSH disease descriptors (7)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390
D000077765	Cone Dystrophy	C11.270.151; C11.768.216
D034381	Hearing Loss	C09.218.458.341; C10.597.751.418.341; C23.888.592.763.393.341
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D009896	Optic Atrophy	C10.292.700.225; C11.640.451
D058499	Retinal Dystrophies	C11.768.585.658
C567203	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5516 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

2 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 100,293 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL175247	ORLISTAT	4	38,186
CHEMBL465	DRONABINOL	4	62,107

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — 2-Acylglycerol ester turnover

Most potent curated ligand interactions (2 total), top 2:

Ligand	Action	Affinity	Parameter
DO264	Inhibition	7.96	pIC50
orlistat	Inhibition	7.1	pIC50

ChEMBL bioactivities

9 potent at pChembl≥5 of 14 total, top 7 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.10	IC50	80	nM	ORLISTAT
6.72	IC50	190.6	nM	ORLISTAT
6.72	IC50	190	nM	ORLISTAT
6.22	IC50	600	nM	CHEMBL4757488
5.68	IC50	2100	nM	CHEMBL4164954
5.68	IC50	2100	nM	CHEMBL4780771
5.60	IC50	2500	nM	CHEMBL4167303

PubChem BioAssay actives

9 with measured affinity, of 204 total; 5 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
Orlistat	409655: Inhibition of recombinant ABHD12 transfected in HEK293T cells by SDS-PAGE using rhodamine-tagged FP probe	ic50	0.0800	uM
N-cycloheptyl-5-(4-fluorophenyl)-1-[(4-fluorophenyl)methyl]-6-methyl-2-oxopyridine-3-carboxamide	1706236: Inhibition of human ABHD12 expressed in HEK293 cells using 2-OG as substrate preincubated for 30 mins followed by substrate addition and measured after 5 mins by liquid scintillation spectroscopy	ic50	0.6000	uM
5-bromo-N-cycloheptyl-1-[(4-fluorophenyl)methyl]-4-methyl-2-oxopyridine-3-carboxamide	1360063: Inhibition of human ABHD12 expressed in HEK293 cells using 2-OG as substrate preincubated for 30 mins followed by substrate addition and measured after 5 mins by liquid scintillation spectroscopic method	ic50	2.1000	uM
5-bromo-N-cycloheptyl-2-[(4-fluorophenyl)methoxy]-6-methylpyridine-3-carboxamide	1706236: Inhibition of human ABHD12 expressed in HEK293 cells using 2-OG as substrate preincubated for 30 mins followed by substrate addition and measured after 5 mins by liquid scintillation spectroscopy	ic50	2.1000	uM
N-cycloheptyl-1-[(4-fluorophenyl)methyl]-4-methyl-2-oxo-5-phenylpyridine-3-carboxamide	1360063: Inhibition of human ABHD12 expressed in HEK293 cells using 2-OG as substrate preincubated for 30 mins followed by substrate addition and measured after 5 mins by liquid scintillation spectroscopic method	ic50	2.5000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, increases methylation	7
Phenylmercuric Acetate	affects cotreatment, increases expression	2
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
beta-lapachone	decreases expression, increases expression	1
sodium arsenite	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
nickel sulfate	decreases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
perfluorooctane sulfonic acid	decreases expression	1
monomethylarsonous acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	increases expression	1
Temozolomide	decreases expression	1
Vorinostat	increases expression	1
Orlistat	decreases activity	1
Acetaminophen	increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants	increases oxidation, affects cotreatment, increases abundance	1
Atrazine	decreases expression	1
Vehicle Emissions	increases abundance, increases expression	1
Cannabidiol	increases expression	1
Coumestrol	affects cotreatment, increases expression	1
Estradiol	affects cotreatment, increases expression	1
Formaldehyde	increases expression	1
Ivermectin	decreases expression	1
Lead	decreases expression	1
Ozone	affects cotreatment, increases oxidation, increases abundance	1
Progesterone	affects cotreatment, increases expression	1
Ribonucleotides	affects binding	1

ChEMBL screening assays

35 unique, capped per target: 31 binding, 3 toxicity, 1 admet

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3089724	Binding	Inhibition of human ABHD12 overexpressed in HEK293 cells assessed as 2-AG hydrolysis at 1 uM by fluorescent glycerol assay	Chiral 1,3,4-oxadiazol-2-ones as highly selective FAAH inhibitors. — J Med Chem
CHEMBL4330039	ADMET	Inhibition of human ABHD12 expressed in HEK293 cells assessed as residual activity at 10 uM preincubated for 30 mins followed by 1-AG substrate addition and measured after 90 to 120 mins by fluorometric assay relative to control	Discovery of 12-Thiazole Abietanes as Selective Inhibitors of the Human Metabolic Serine Hydrolase hABHD16A. — ACS Med Chem Lett
CHEMBL5374075	Toxicity	Inhibition of azido-fluorophosphonate probe binding to human ABHD12 expressed in HEK293T cells at 100 uM incubated for 1 hr followed by azido-fluorophosphonate addition and measured after 1 hr by fluorescent Western blotting analysis relati	Probing the Interactions of Thiazole Abietane Inhibitors with the Human Serine Hydrolases ABHD16A and ABHD12. — ACS Med Chem Lett

Cellosaurus cell lines

13 cell lines: 12 cancer cell line, 1 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_0559	TF-1	Cancer cell line	Male
CVCL_3607	TF-1.CN5a.1	Cancer cell line	Male
CVCL_3608	TF-1a	Cancer cell line	Male
CVCL_8059	TF-1 D2	Cancer cell line	Male
CVCL_8060	TF-1 D8	Cancer cell line	Male
CVCL_A4BL	TF-1 IDH2 p.R140Q-Luc2	Cancer cell line	Male
CVCL_A4BP	TF-1-Luc2	Cancer cell line	Male
CVCL_D6NT	UCLi025-A	Induced pluripotent stem cell	Female
CVCL_J294	TF-1 BCR/ABL	Cancer cell line	Male
CVCL_KS74	CellSensor irf1-bla TF1	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00205881	PHASE4	COMPLETED	Bilateral Benefit in Adult Users of the HiRes 90K Bionic Ear System
NCT00331539	PHASE4	UNKNOWN	Relationship Between Auto NRT and Behavioural T & C Levels With the Nucleus Freedom Cochlear Implant
NCT00424307	PHASE4	UNKNOWN	Bilateral Cochlear Implant Benefit in Young Children
NCT00765635	PHASE4	COMPLETED	Chlorobutanol, Potassium Carbonate, and Irrigation in Cerumen Removal
NCT03321006	PHASE4	COMPLETED	Treating Hearing Loss to Improve Mood and Cognition in Older Adults
NCT01499901	PHASE3	WITHDRAWN	Comparison of the Bilateral Sequential and Simultaneous Cochlear Implantation in the Deaf Children
NCT02561091	PHASE3	COMPLETED	AM-111 in the Treatment of Acute Inner Ear Hearing Loss
NCT03331627	PHASE3	COMPLETED	Safety and Efficacy of STR001-IT and STR001-ER in Patients With SSHL
NCT05532657	PHASE3	ACTIVE_NOT_RECRUITING	ACHIEVE Brain Health Follow-Up Study
NCT00013455	PHASE2	COMPLETED	Quantifying Auditory Perceptual Learning Following Hearing Aid Fitting
NCT00323427	PHASE2	COMPLETED	Clinical Trial of the Living Well With Hearing Loss Workshop
NCT00552786	PHASE2	COMPLETED	Antioxidation Medication for Noise-induced Hearing Loss
NCT00802425	PHASE2	COMPLETED	Efficacy of AM-111 in Patients With Acute Sensorineural Hearing Loss
NCT01139281	PHASE2	COMPLETED	The Protective Effect of Ginkgo Biloba Extract on Cisplatin-induced Ototoxicity in Humans
NCT01451853	PHASE2	UNKNOWN	SPI-1005 for Prevention and Treatment of Chemotherapy Induced Hearing Loss
NCT01588925	PHASE2	COMPLETED	Hearing Preservation Using Dexamethasone and Hyaluronic Acid for Cochlear Implantation
NCT01773278	PHASE2	RECRUITING	Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
NCT02832128	PHASE2	COMPLETED	Evaluating Possible Improvement in Speech and Hearing Tests After 28 Days of Dosing of the Study Drug AUT00063 Compared to Placebo (QuicKfire)
NCT04915183	PHASE2	RECRUITING	Atorvastatin to Reduce Cisplatin-Induced Hearing Loss Among Individuals With Head and Neck Cancer
NCT05258773	PHASE2	COMPLETED	Evaluation of the Presence of SENS-401 in the Perilymph
NCT06340633	PHASE2	RECRUITING	SPI-1005 in Adults Receiving Cochlear Implant
NCT00582946	PHASE1	COMPLETED	Wide-Bandwidth Open Canal Hearing Aid For Better Multitalker Speech Understanding
NCT00584155	PHASE1	WITHDRAWN	Protection From Cisplatin Ototoxicity by Lactated Ringers
NCT01206829	PHASE1	UNKNOWN	Hearing Impairment, Cognitive Therapy and Coping
NCT01256229	PHASE1	COMPLETED	Outcomes In Children With Developmental Delay And Deafness
NCT01343394	PHASE1	WITHDRAWN	Safety of Autologous Human Umbilical Cord Blood Mononuclear Fraction to Treat Acquired Hearing Loss in Children
NCT01452607	PHASE1	COMPLETED	Study to Evaluate the Safety and Pharmacokinetics of SPI-1005
NCT02259595	PHASE1	COMPLETED	Study to Determine the Safety, Tolerability, and Pharmacokinetic Profile of HPN-07 and HPN-07 Plus NAC
NCT04041440	PHASE1	COMPLETED	Speech Recognition Training in Children With Hearing Loss
NCT07218913	PHASE1	RECRUITING	Testing the Addition of Pedmark to Cisplatin Chemotherapy for Reducing Drug-Induced Ear Damage in Men With Stage II-III Metastatic Testicular Germ Cell Tumors
NCT00486577	PHASE2/PHASE3	COMPLETED	Chronic Electrical Stimulation of the Auditory Cortex for Intractable Tinnitus
NCT00789061	PHASE2/PHASE3	UNKNOWN	Applying Proton Pump Inhibitor to Prevent and Treat Acute Fluctuating Hearing Loss in Patients With SLC26A4 Mutation
NCT01423409	PHASE2/PHASE3	COMPLETED	Multicenter Trial Assessing an Innovative VAS of Pain Among Deaf People
NCT05786378	PHASE2/PHASE3	UNKNOWN	Assessment of The Efficacy of Intratympanic Platelet Rich Plasma for Treatment of Sensorineural Hearing Loss.
NCT01108601	PHASE1/PHASE2	UNKNOWN	Transtympanic Ringer’s Lactate for the Prevention of Cisplatin Ototoxicity
NCT01621256	PHASE1/PHASE2	COMPLETED	Efficacy, Safety, and Tolerability of Ancrod in Patients With Sudden Hearing Loss
NCT06370351	PHASE1/PHASE2	RECRUITING	A Phase I/II Clinical Trial with SENS-501 in Children Suffering from Severe to Profound Hearing Loss Due to Otoferlin (OTOF) Mutations
NCT06545175	PHASE1/PHASE2	RECRUITING	Intracochlear Application of VSF1.01 for the Reduction of Cochlear Implant Surgery Related Trauma
NCT07304024	PHASE1/PHASE2	RECRUITING	A Treatment for a Form of Age-Related Central Auditory Processing Disorder Consisting of Clemastine Fumarate Plus Engineered Sound
NCT01109576	EARLY_PHASE1	COMPLETED	Workshops for Veterans With Vision and Hearing Loss