ABHD17A

Summary

ABHD17A (abhydrolase domain containing 17A, depalmitoylase, HGNC:28756) is a protein-coding gene on chromosome 19p13.3, encoding Alpha/beta hydrolase domain-containing protein 17A (Q96GS6). Hydrolyzes fatty acids from S-acylated cysteine residues in proteins. It is a selective cancer dependency (DepMap: 14.7% of cell lines).

Enables palmitoyl-(protein) hydrolase activity. Involved in negative regulation of NLRP3 inflammasome complex assembly; protein depalmitoylation; and protein localization to membrane. Located in endosome membrane; nuclear speck; and plasma membrane.

Source: NCBI Gene 81926 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 70 total — 3 pathogenic, 1 likely-pathogenic
• Cancer dependency (DepMap): dependent in 14.7% of screened cell lines
• MANE Select transcript: NM_001130111

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28756
Approved symbol	ABHD17A
Name	abhydrolase domain containing 17A, depalmitoylase
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC5244
Ensembl gene	ENSG00000129968
Ensembl biotype	protein_coding
OMIM	617942
Entrez	81926

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 16 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000250974, ENST00000292577, ENST00000588598, ENST00000590661, ENST00000591351, ENST00000592757, ENST00000676686, ENST00000677868, ENST00000887329, ENST00000887330, ENST00000887331, ENST00000887332, ENST00000887333, ENST00000887334, ENST00000922835, ENST00000958657, ENST00000958658, ENST00000958659, ENST00000958660

RefSeq mRNA: 2 — MANE Select: NM_001130111 NM_001130111, NM_031213

CCDS: CCDS32867, CCDS45902

Canonical transcript exons

ENST00000292577 — 5 exons

Exon	Start	End
ENSE00000892156	1879921	1880115
ENSE00001237866	1881235	1881804
ENSE00001318006	1885352	1885496
ENSE00002539380	1876810	1877425
ENSE00003518757	1877508	1877687

Expression profiles

Bgee: expression breadth ubiquitous, 139 present calls, max score 98.91.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.0690 / max 67.8986, expressed in 1780 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
178091	6.8188	1777
178088	0.2298	67
178087	0.0204	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	98.91	gold quality
primary visual cortex	UBERON:0002436	98.36	gold quality
Ammon’s horn	UBERON:0001954	98.21	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.07	gold quality
temporal lobe	UBERON:0001871	97.79	gold quality
amygdala	UBERON:0001876	97.77	gold quality
putamen	UBERON:0001874	97.65	gold quality
anterior cingulate cortex	UBERON:0009835	97.57	gold quality
right frontal lobe	UBERON:0002810	97.52	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.37	gold quality
caudate nucleus	UBERON:0001873	97.14	gold quality
nucleus accumbens	UBERON:0001882	97.14	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	97.14	gold quality
substantia nigra	UBERON:0002038	97.10	gold quality
cerebellum	UBERON:0002037	96.89	gold quality
cerebellar cortex	UBERON:0002129	96.87	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.86	gold quality
cerebellar hemisphere	UBERON:0002245	96.85	gold quality
lower esophagus mucosa	UBERON:0035834	96.75	gold quality
superior frontal gyrus	UBERON:0002661	96.71	gold quality
blood	UBERON:0000178	96.62	gold quality
hypothalamus	UBERON:0001898	96.42	gold quality
brain	UBERON:0000955	96.24	gold quality
cerebral cortex	UBERON:0000956	96.11	gold quality
apex of heart	UBERON:0002098	96.08	gold quality
skin of leg	UBERON:0001511	95.99	gold quality
skin of abdomen	UBERON:0001416	95.80	gold quality
spleen	UBERON:0002106	95.79	gold quality
zone of skin	UBERON:0000014	95.75	gold quality
right atrium auricular region	UBERON:0006631	95.05	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-MTAB-8205	yes	375.55
E-CURD-122	yes	38.86
E-MTAB-9467	yes	35.22
E-MTAB-8271	yes	18.31
E-HCAD-13	yes	8.22
E-ANND-3	yes	4.94
E-MTAB-7606	no	622.26
E-GEOD-75367	no	246.62

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

12 targeting ABHD17A, 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-137-3P	99.87	74.74	2401
HSA-MIR-516A-3P	99.46	67.96	1378
HSA-MIR-516B-3P	99.46	67.96	1378
HSA-MIR-7162-5P	99.46	68.08	1368
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-331-3P	98.76	64.91	793
HSA-MIR-2115-5P	98.66	68.07	1191
HSA-MIR-210-5P	98.57	64.37	832
HSA-MIR-3977	98.00	68.17	1500
HSA-MIR-1468-5P	94.18	69.04	176

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 14.7% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 1)

• Site-specific deacylation by ABHD17a controls BK channel splice variant activity. (PMID:32913120)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	abhd17ab	ENSDARG00000043084
danio_rerio	abhd17aa	ENSDARG00000091433
mus_musculus	Abhd17a	ENSMUSG00000003346
rattus_norvegicus	Klf16	ENSRNOG00000033694
drosophila_melanogaster	CG33096	FBGN0053096
caenorhabditis_elegans	aho-3	WBGENE00045192

Paralogs (7): ABHD12 (ENSG00000100997), ABHD17B (ENSG00000107362), ABHD12B (ENSG00000131969), ABHD17C (ENSG00000136379), ABHD13 (ENSG00000139826), ABHD16B (ENSG00000183260), ABHD16A (ENSG00000204427)

Protein

Protein identifiers

Alpha/beta hydrolase domain-containing protein 17A — Q96GS6 (reviewed: Q96GS6)

All UniProt accessions (4): Q96GS6, A0A7I2YQW9, K7ENJ6, K7EQ25

UniProt curated annotations — full annotation on UniProt →

Function. Hydrolyzes fatty acids from S-acylated cysteine residues in proteins. Has depalmitoylating activity towards NRAS. Has depalmitoylating activity towards DLG4/PSD95. May have depalmitoylating activity towards MAP6.

Subcellular location. Cell membrane. Endosome membrane. Cell projection. Dendritic spine. Postsynaptic density membrane.

Post-translational modifications. Palmitoylated on cysteine residues located in a cysteine cluster at the N-terminus which promotes membrane localization. Palmitoylation is required for post-synaptic localization and for depalmitoylating activity towards DLG4/PSD95.

Activity regulation. Inhibited by palmostatin-B.

Similarity. Belongs to the AB hydrolase superfamily. ABHD17 family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q96GS6-1	1	yes
Q96GS6-2	2
Q96GS6-3	3
Q96GS6-4	4

RefSeq proteins (2): NP_001123583, NP_112490 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR022742	ABHD17C-like	Domain
IPR029058	AB_hydrolase_fold	Homologous_superfamily

Pfam: PF12146

Catalyzed reactions (Rhea), 1 shown:

• S-hexadecanoyl-L-cysteinyl-[protein] + H2O = L-cysteinyl-[protein] + hexadecanoate + H(+) (RHEA:19233)

UniProt features (13 total): splice variant 4, active site 3, mutagenesis site 2, sequence conflict 2, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96GS6-F1	89.99	0.82

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): 190 (charge relay system); 255 (charge relay system); 284 (charge relay system)

Post-translational modifications (1): 307

Mutagenesis-validated functional residues (2):

Position	Phenotype
190	loss of catalytic activity. no effect on its localization. no effect on nras plasma membrane localization.
1–19	reduces catalytic activity. loss of membrane localization. no effect on nras plasma membrane localization.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-9648002	RAS processing
R-HSA-162582	Signal Transduction
R-HSA-5673001	RAF/MAP kinase cascade
R-HSA-5683057	MAPK family signaling cascades
R-HSA-5684996	MAPK1/MAPK3 signaling

MSigDB gene sets: 210 (showing top): GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_PROTEIN_LOCALIZATION_TO_CYTOSKELETON, GOBP_INFLAMMATORY_RESPONSE, GOBP_LIPOPROTEIN_METABOLIC_PROCESS, GOBP_MACROMOLECULE_DEACYLATION, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, RICKMAN_METASTASIS_DN, GOBP_CELL_JUNCTION_ORGANIZATION

GO Biological Process (9): protein depalmitoylation (GO:0002084), protein localization to membrane (GO:0072657), regulation of postsynapse organization (GO:0099175), negative regulation of NLRP3 inflammasome complex assembly (GO:1900226), negative regulation of protein localization to microtubule (GO:1902817), positive regulation of protein localization to endosome (GO:1905668), NLRP3 inflammasome complex assembly (GO:0044546), macromolecule depalmitoylation (GO:0098734), positive regulation of NLRP3 inflammasome complex assembly (GO:1900227)

GO Molecular Function (3): palmitoyl-(protein) hydrolase activity (GO:0008474), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (14): plasma membrane (GO:0005886), endosome membrane (GO:0010008), membrane (GO:0016020), nuclear speck (GO:0016607), dendritic spine (GO:0043197), recycling endosome membrane (GO:0055038), postsynaptic density membrane (GO:0098839), postsynaptic recycling endosome membrane (GO:0098944), glutamatergic synapse (GO:0098978), endosome (GO:0005768), postsynaptic density (GO:0014069), cell projection (GO:0042995), synapse (GO:0045202), postsynaptic membrane (GO:0045211)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
RAF/MAP kinase cascade	1
MAPK1/MAPK3 signaling	1
Signal Transduction	1
MAPK family signaling cascades	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
NLRP3 inflammasome complex assembly	2
regulation of NLRP3 inflammasome complex assembly	2
cellular anatomical structure	2
postsynapse	2
protein deacylation	1
lipoprotein catabolic process	1
macromolecule depalmitoylation	1
intracellular protein localization	1
localization within membrane	1
regulation of synapse organization	1
postsynapse organization	1
negative regulation of protein-containing complex assembly	1
negative regulation of inflammasome-mediated signaling pathway	1
protein localization to microtubule	1
regulation of protein localization to microtubule	1
negative regulation of protein localization	1
protein localization to endosome	1
positive regulation of protein localization	1
regulation of protein localization to endosome	1
canonical inflammasome complex assembly	1
macromolecule deacylation	1
positive regulation of protein-containing complex assembly	1
positive regulation of inflammasome-mediated signaling pathway	1
thiolester hydrolase activity	1
palmitoyl hydrolase activity	1
catalytic activity, acting on a protein	1
binding	1
catalytic activity	1
membrane	1
cell periphery	1
endosome	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1
nuclear ribonucleoprotein granule	1
dendrite	1
neuron spine	1
endosome membrane	1
recycling endosome	1
postsynaptic density	1
postsynaptic membrane	1

Protein interactions and networks

STRING

676 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABHD17A	ABHD10	Q9NUJ1	682
ABHD17A	PPT1	P50897	650
ABHD17A	LYPLA1	O75608	623
ABHD17A	LYPLA2	O95372	616
ABHD17A	PPT2	Q9UMR5	586
ABHD17A	LYPLAL1	Q5VWZ2	584
ABHD17A	ABHD16A	O95870	560
ABHD17A	ZDHHC5	Q9C0B5	524
ABHD17A	ZDHHC7	Q9NXF8	515
ABHD17A	ABHD6	Q9BV23	507
ABHD17A	ZDHHC16	Q969W1	505
ABHD17A	ADAMTS10	Q9H324	467
ABHD17A	ABHD16B	Q9H3Z7	464
ABHD17A	ABHD15	Q6UXT9	462
ABHD17A	RBBP9	O75884	454

IntAct

29 interactions, top by confidence:

A	B	Type	Score
HPGDS	ABHD17A	psi-mi:“MI:0915”(physical association)	0.670
ABHD17A	HPGDS	psi-mi:“MI:0915”(physical association)	0.670
ABHD17A	Hoxa1	psi-mi:“MI:0915”(physical association)	0.570
Hoxa1	ABHD17A	psi-mi:“MI:0915”(physical association)	0.570
ABHD17A	rep	psi-mi:“MI:0915”(physical association)	0.400
ABHD17A	rep	psi-mi:“MI:0915”(physical association)	0.370
ABHD17A	DLG4	psi-mi:“MI:0915”(physical association)	0.370
TNIP1	ABHD17A	psi-mi:“MI:0915”(physical association)	0.370
EHMT2	ABHD17A	psi-mi:“MI:0915”(physical association)	0.370
TRAF1	ABHD17A	psi-mi:“MI:0915”(physical association)	0.370
ABHD17A	GOLGA2	psi-mi:“MI:0915”(physical association)	0.370
GPC4	ABHD17A	psi-mi:“MI:0915”(physical association)	0.370
RGS20	ABHD17A	psi-mi:“MI:0915”(physical association)	0.370
ABHD17A	TRIM27	psi-mi:“MI:0915”(physical association)	0.370
ABHD17A	KRTAP5-9	psi-mi:“MI:0915”(physical association)	0.370
ABHD17A	BIRC2	psi-mi:“MI:0915”(physical association)	0.370
ABHD17A	PNMA1	psi-mi:“MI:0915”(physical association)	0.370
MDFI	ABHD17A	psi-mi:“MI:0915”(physical association)	0.370
C5AR2	UBXN8	psi-mi:“MI:0914”(association)	0.350
GPR12	TLCD2	psi-mi:“MI:0914”(association)	0.350
ABHD17A	DYNLT2B	psi-mi:“MI:0914”(association)	0.350
ABHD17A	SPAG9	psi-mi:“MI:0914”(association)	0.350
P2RY8	CIT	psi-mi:“MI:0914”(association)	0.350
UPK2	IFT56	psi-mi:“MI:0914”(association)	0.350
ABHD17A	yopM	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (47): ABHD17A (Two-hybrid), VPS28 (Affinity Capture-MS), TCTEX1D2 (Affinity Capture-MS), ABHD17A (PCA), Hoxa1 (Affinity Capture-Western), ABHD17A (Two-hybrid), ABHD17A (Two-hybrid), ABHD17A (Two-hybrid), ABHD17A (Two-hybrid), ABHD17A (Two-hybrid), ABHD17A (Two-hybrid), ABHD17A (Two-hybrid), ABHD17A (Two-hybrid), ABHD17A (Two-hybrid), ABHD17A (Two-hybrid)

ESM2 similar proteins: A0A2R8QFQ6, A0A2R8RWN9, A0JN27, A5PKD9, B5DFK7, D3Z7P3, G3MWR8, O94925, P13264, Q01098, Q08DW9, Q14722, Q28528, Q28D01, Q2HJ19, Q2YDM2, Q4R766, Q5JUK3, Q5NVE6, Q5RIC0, Q5SRY7, Q5TA45, Q5XIJ5, Q5ZIN0, Q5ZJ01, Q5ZJX1, Q67FW5, Q6DCC5, Q6DD70, Q6DEY3, Q6GL10, Q6PCB6, Q6ZPR4, Q7RTP6, Q7ZVZ7, Q8BTG7, Q8C6G8, Q8CJ19, Q8N2K0, Q8TF64

Diamond homologs: A0A2S3R7M0, A5PKD9, B5DFK7, Q2HJ19, Q5UQK4, Q5VST6, Q5XIJ5, Q5ZJ01, Q5ZJX1, Q6AY17, Q6DCC5, Q6DD70, Q6DEY3, Q6GL10, Q6IRP4, Q6PCB6, Q7M759, Q7ZVZ7, Q8RXP6, Q8VCV1, Q96GS6, Q99JW1, Q9KS12, P77538, P9WLC6, P9WLC7, Q21221, Q8XA81, A0A084R1K6, B4F753, P0CU85, P54069, Q08C93, Q08DW9, Q32LS6, Q4R766, Q5ZIN0, Q5ZJL8, Q6AYT7, Q7L211

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	1
Uncertain significance	54
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	Pathogenic
59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	Pathogenic
60069	GRCh38/hg38 19p13.3(chr19:1727562-2306496)x1	Pathogenic
816060	GRCh37/hg19 19p13.3(chr19:1075192-2256387)x3	Likely pathogenic

SpliceAI

1223 predictions. Top by Δscore:

Variant	Effect	Δscore
19:1877421:CGATG:C	acceptor_gain	1.0000
19:1877422:GATG:G	acceptor_gain	1.0000
19:1877423:ATG:A	acceptor_gain	1.0000
19:1877424:TG:T	acceptor_gain	1.0000
19:1877424:TGCTG:T	acceptor_loss	1.0000
19:1877426:C:CC	acceptor_gain	1.0000
19:1877426:CT:C	acceptor_loss	1.0000
19:1877506:A:AC	donor_gain	1.0000
19:1877507:C:CT	donor_gain	1.0000
19:1877507:CT:C	donor_gain	1.0000
19:1877507:CTT:C	donor_gain	1.0000
19:1877510:A:AC	donor_gain	1.0000
19:1877511:G:C	donor_gain	1.0000
19:1879915:CCTCA:C	donor_loss	1.0000
19:1879916:CTCA:C	donor_loss	1.0000
19:1879917:TCA:T	donor_loss	1.0000
19:1879918:CACC:C	donor_loss	1.0000
19:1879919:A:AG	donor_loss	1.0000
19:1879920:C:CT	donor_loss	1.0000
19:1880116:CTGGG:C	acceptor_loss	1.0000
19:1885448:T:TA	donor_gain	1.0000
19:1877502:GCTCA:G	donor_loss	0.9900
19:1877503:CTCA:C	donor_loss	0.9900
19:1877504:TCAC:T	donor_loss	0.9900
19:1877505:CACT:C	donor_loss	0.9900
19:1877506:AC:A	donor_loss	0.9900
19:1877507:CTTA:C	donor_gain	0.9900
19:1877507:CTTAG:C	donor_gain	0.9900
19:1877536:T:TA	donor_gain	0.9900
19:1877685:TACC:T	acceptor_loss	0.9900

AlphaMissense

2004 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:1877243:A:G	L297P	1.000
19:1877276:T:A	D286V	1.000
19:1877276:T:G	D286A	1.000
19:1877277:C:G	D286H	1.000
19:1877278:G:C	N285K	1.000
19:1877278:G:T	N285K	1.000
19:1877281:G:C	H284Q	1.000
19:1877281:G:T	H284Q	1.000
19:1877282:T:A	H284L	1.000
19:1877282:T:C	H284R	1.000
19:1877283:G:A	H284Y	1.000
19:1877283:G:C	H284D	1.000
19:1877283:G:T	H284N	1.000
19:1877288:G:T	A282D	1.000
19:1877301:A:G	W278R	1.000
19:1877301:A:T	W278R	1.000
19:1877303:A:G	L277P	1.000
19:1877345:C:T	G263E	1.000
19:1877346:C:A	G263W	1.000
19:1877346:C:G	G263R	1.000
19:1877346:C:T	G263R	1.000
19:1877360:A:T	I258N	1.000
19:1877368:G:C	D255E	1.000
19:1877368:G:T	D255E	1.000
19:1877369:T:A	D255V	1.000
19:1877369:T:C	D255G	1.000
19:1877369:T:G	D255A	1.000
19:1877370:C:A	D255Y	1.000
19:1877370:C:G	D255H	1.000
19:1877370:C:T	D255N	1.000

dbSNP variants (sampled 300 via entrez): RS1000163913 (19:1883543 G>A), RS1000166358 (19:1878922 A>C,G), RS1000189507 (19:1886753 C>A,T), RS1000607602 (19:1883855 T>C), RS1000728779 (19:1879060 T>A,C), RS1001276771 (19:1878120 C>T), RS1001372239 (19:1887013 T>C), RS1001386219 (19:1886842 C>A), RS1001566978 (19:1883931 A>C), RS1001623444 (19:1882351 CAACA>C), RS1002238204 (19:1877106 CG>C,CGG), RS1002389491 (19:1885841 C>A), RS1002621982 (19:1876964 G>A), RS1002990187 (19:1884890 G>A), RS1003397659 (19:1885045 G>A)

Disease associations

OMIM: gene MIM:617942 | disease phenotypes: MIM:616540, MIM:608709

GenCC curated gene-disease

Mondo (3): progressive myoclonic epilepsy type 9 (MONDO:0014685), lipodystrophy, partial, acquired, susceptibility to (MONDO:0100476), neurodevelopmental disorder (MONDO:0700092)

Orphanet (1): Progressive myoclonic epilepsy type 9 (Orphanet:457265)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	2
Arsenic	affects expression, affects methylation	2
aristolochic acid I	increases expression	1
bisphenol A	decreases methylation, affects cotreatment	1
trichostatin A	affects expression	1
nickel sulfate	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
(+)-JQ1 compound	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Vehicle Emissions	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Selenium	increases expression	1
Smoke	decreases expression	1
Dronabinol	increases expression	1
Valproic Acid	increases methylation	1
Cadmium Chloride	decreases expression	1
tert-Butylhydroperoxide	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1IN	Abcam HeLa ABHD17A KO	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157	Not specified	COMPLETED	Analyzing Retinal Microanatomy in ROP
NCT02898298	Not specified	COMPLETED	Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780	Not specified	UNKNOWN	Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293	Not specified	COMPLETED	n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644	Not specified	COMPLETED	Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991	Not specified	UNKNOWN	Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028	Not specified	COMPLETED	Developmental Origins of Mental Health Disorders
NCT03148782	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104	Not specified	COMPLETED	Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03229928	Not specified	COMPLETED	Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge
NCT03232489	Not specified	UNKNOWN	Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice