ABHD17B

gene
On this page

Also known as CGI-67

Summary

ABHD17B (abhydrolase domain containing 17B, depalmitoylase, HGNC:24278) is a protein-coding gene on chromosome 9q21.13, encoding Alpha/beta hydrolase domain-containing protein 17B (Q5VST6). Hydrolyzes fatty acids from S-acylated cysteine residues in proteins.

Enables palmitoyl-(protein) hydrolase activity. Involved in protein depalmitoylation. Located in membrane.

Source: NCBI Gene 51104 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 45 total — 7 pathogenic, 4 likely-pathogenic
  • Druggable target: yes
  • MANE Select transcript: NM_001025780

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:24278
Approved symbolABHD17B
Nameabhydrolase domain containing 17B, depalmitoylase
Location9q21.13
Locus typegene with protein product
StatusApproved
AliasesCGI-67
Ensembl geneENSG00000107362
Ensembl biotypeprotein_coding
OMIM617943
Entrez51104

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 25 protein_coding

ENST00000333421, ENST00000377041, ENST00000860588, ENST00000860589, ENST00000860590, ENST00000860591, ENST00000860592, ENST00000860593, ENST00000860594, ENST00000860595, ENST00000860596, ENST00000860597, ENST00000860598, ENST00000860599, ENST00000860600, ENST00000930684, ENST00000930685, ENST00000930686, ENST00000930687, ENST00000930688, ENST00000945709, ENST00000945710, ENST00000945711, ENST00000945712, ENST00000945713

RefSeq mRNA: 2 — MANE Select: NM_001025780 NM_001025780, NM_016014

CCDS: CCDS35042, CCDS35043

Canonical transcript exons

ENST00000333421 — 4 exons

ExonStartEnd
ENSE000011619707187008371870262
ENSE000013083797186515271867006
ENSE000013276507187461471875083
ENSE000018213567191063471911193

Expression profiles

Bgee: expression breadth ubiquitous, 264 present calls, max score 98.48.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.0211 / max 138.8663, expressed in 1774 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
10093511.30081763
1009340.9719619
1009330.7484412

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
endothelial cellCL:000011598.48gold quality
secondary oocyteCL:000065598.26gold quality
epithelium of nasopharynxUBERON:000195196.52gold quality
Brodmann (1909) area 23UBERON:001355496.51gold quality
amniotic fluidUBERON:000017395.35gold quality
mucosa of paranasal sinusUBERON:000503095.29gold quality
bronchial epithelial cellCL:000232895.24gold quality
gingival epitheliumUBERON:000194995.03gold quality
oocyteCL:000002394.98gold quality
mucosa of sigmoid colonUBERON:000499394.81gold quality
buccal mucosa cellCL:000233694.72gold quality
jejunal mucosaUBERON:000039994.56gold quality
esophagus squamous epitheliumUBERON:000692094.44gold quality
inferior vagus X ganglionUBERON:000536394.36gold quality
gingivaUBERON:000182893.71gold quality
palpebral conjunctivaUBERON:000181293.49gold quality
colonic mucosaUBERON:000031793.08gold quality
oral cavityUBERON:000016792.53gold quality
subthalamic nucleusUBERON:000190692.41gold quality
visceral pleuraUBERON:000240192.36gold quality
postcentral gyrusUBERON:000258191.99gold quality
entorhinal cortexUBERON:000272891.96gold quality
corpus callosumUBERON:000233691.91gold quality
parietal pleuraUBERON:000240091.88gold quality
substantia nigra pars reticulataUBERON:000196691.75gold quality
ventral tegmental areaUBERON:000269191.68gold quality
parietal lobeUBERON:000187291.38gold quality
globus pallidusUBERON:000187591.35gold quality
medial globus pallidusUBERON:000247790.98gold quality
germinal epithelium of ovaryUBERON:000130490.94gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

12 targeting ABHD17B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-145-5P99.9271.131836
HSA-MIR-5195-3P99.9270.921877
HSA-MIR-430699.7270.503630
HSA-MIR-488-3P99.6168.791731
HSA-MIR-510-3P99.5470.062965
HSA-MIR-127699.3668.181642
HSA-MIR-185-5P99.3568.602497
HSA-MIR-464499.3569.122514
HSA-MIR-431199.3170.473041
HSA-MIR-125399.1267.081688
HSA-MIR-58398.7167.441791
HSA-MIR-519296.8963.35879

Literature-anchored findings (GeneRIF, showing 1)

  • ABHD17 regulation of plasma membrane palmitoylation and N-Ras-dependent cancer growth. (PMID:33927411)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_rerioabhd17bENSDARG00000035571
mus_musculusAbhd17bENSMUSG00000047368
rattus_norvegicusAbhd17bENSRNOG00000012514
caenorhabditis_elegansWBGENE00008497
caenorhabditis_elegansWBGENE00008498

Paralogs (7): ABHD12 (ENSG00000100997), ABHD17A (ENSG00000129968), ABHD12B (ENSG00000131969), ABHD17C (ENSG00000136379), ABHD13 (ENSG00000139826), ABHD16B (ENSG00000183260), ABHD16A (ENSG00000204427)

Protein

Protein identifiers

Alpha/beta hydrolase domain-containing protein 17BQ5VST6 (reviewed: Q5VST6)

All UniProt accessions (2): Q5VST6, A0A384MEH9

UniProt curated annotations — full annotation on UniProt →

Function. Hydrolyzes fatty acids from S-acylated cysteine residues in proteins. Has depalmitoylating activity towards DLG4/PSD95. Has depalmitoylating activity towards GAP43. Has depalmitoylating activity towards MAP6. Has depalmitoylating activity towards NRAS.

Subcellular location. Cell membrane. Recycling 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 (2)

UniProt IDNamesCanonical?
Q5VST6-11yes
Q5VST6-22

RefSeq proteins (2): NP_001020951, NP_057098 (=MANE)

Domains & families (InterPro)

IDNameType
IPR022742ABHD17C-likeDomain
IPR029058AB_hydrolase_foldHomologous_superfamily

Pfam: PF12146

Catalyzed reactions (Rhea), 1 shown:

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

UniProt features (11 total): active site 3, sequence conflict 3, sequence variant 2, chain 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q5VST6-F192.510.84

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): 170 (charge relay system); 235 (charge relay system); 264 (charge relay system)

Post-translational modifications (1): 282

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

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

MSigDB gene sets: 223 (showing top): RNGTGGGC_UNKNOWN, AP1_01, GOBP_PROTEIN_LOCALIZATION_TO_CYTOSKELETON, YAATNRNNNYNATT_UNKNOWN, GOBP_LIPOPROTEIN_METABOLIC_PROCESS, NKX25_02, GOBP_MACROMOLECULE_DEACYLATION, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_CELLULAR_COMPONENT_MAINTENANCE, TGACCTY_ERR1_Q2, GTACAGG_MIR486, USF_C, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION

GO Biological Process (7): protein depalmitoylation (GO:0002084), regulation of postsynapse organization (GO:0099175), regulation of protein localization to synapse (GO:1902473), negative regulation of protein localization to microtubule (GO:1902817), regulation of dendritic spine maintenance (GO:1902950), positive regulation of protein localization to endosome (GO:1905668), macromolecule depalmitoylation (GO:0098734)

GO Molecular Function (2): palmitoyl-(protein) hydrolase activity (GO:0008474), hydrolase activity (GO:0016787)

GO Cellular Component (13): plasma membrane (GO:0005886), endosome membrane (GO:0010008), membrane (GO:0016020), 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:

CategoryPathways
RAF/MAP kinase cascade1
MAPK1/MAPK3 signaling1
Signal Transduction1
MAPK family signaling cascades1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure2
postsynapse2
protein deacylation1
lipoprotein catabolic process1
macromolecule depalmitoylation1
regulation of synapse organization1
postsynapse organization1
regulation of protein localization1
protein localization to synapse1
protein localization to microtubule1
regulation of protein localization to microtubule1
negative regulation of protein localization1
dendritic spine maintenance1
regulation of postsynapse organization1
regulation of plasma membrane bounded cell projection organization1
protein localization to endosome1
positive regulation of protein localization1
regulation of protein localization to endosome1
macromolecule deacylation1
thiolester hydrolase activity1
palmitoyl hydrolase activity1
catalytic activity, acting on a protein1
catalytic activity1
membrane1
cell periphery1
endosome1
cytoplasmic vesicle membrane1
bounding membrane of organelle1
dendrite1
neuron spine1
endosome membrane1
recycling endosome1
postsynaptic density1
postsynaptic membrane1
postsynaptic specialization membrane1
postsynaptic recycling endosome1
postsynaptic endosome membrane1
synapse1
endomembrane system1
cytoplasmic vesicle1

Protein interactions and networks

STRING

616 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ABHD17BABHD10Q9NUJ1589
ABHD17BC9orf57Q5W0N0577
ABHD17BRBBP9O75884541
ABHD17BLYPLA1O75608500
ABHD17BLYPLA2O95372500
ABHD17BAFMIDQ63HM1497
ABHD17BPPME1Q9Y570493
ABHD17BLYPLAL1Q5VWZ2483
ABHD17BABHD6Q9BV23480
ABHD17BABHD11Q8NFV4463
ABHD17BABHD16AO95870459
ABHD17BPPT2Q9UMR5449
ABHD17BPPT1P50897449
ABHD17BPAFAH1B2P68402447
ABHD17BACOT4Q8N9L9446

IntAct

68 interactions, top by confidence:

ABTypeScore
DYNLT2BDYNLT1psi-mi:“MI:0914”(association)0.790
TRIM16LCCDC22psi-mi:“MI:0914”(association)0.640
FAM174ABLTP3Bpsi-mi:“MI:0914”(association)0.530
TOR1AIP2TMEM223psi-mi:“MI:0914”(association)0.530
CXCR4TMEM120Bpsi-mi:“MI:0914”(association)0.530
MAS1POTEFpsi-mi:“MI:0914”(association)0.530
APLNRMETTL15psi-mi:“MI:0914”(association)0.530
SLC2A12METTL15psi-mi:“MI:0914”(association)0.530
DEFA1MANBApsi-mi:“MI:0914”(association)0.530
NRBP1TBC1D4psi-mi:“MI:0914”(association)0.530
DYNLT2BSNX2psi-mi:“MI:0914”(association)0.530
MFSD4AHIP1Rpsi-mi:“MI:0914”(association)0.530
PRG3ZNF324psi-mi:“MI:0914”(association)0.530
SFTA2TBCEpsi-mi:“MI:0914”(association)0.530
APLNRSLC33A1psi-mi:“MI:0914”(association)0.530
GPR17IPO8psi-mi:“MI:0914”(association)0.530
Npc1ESYT2psi-mi:“MI:0914”(association)0.350
AVPR2GXYLT2psi-mi:“MI:0914”(association)0.350
GPR17TMEM120Bpsi-mi:“MI:0914”(association)0.350
CD80POTEFpsi-mi:“MI:0914”(association)0.350
A4GALTVPS37Cpsi-mi:“MI:0914”(association)0.350
C5AR1TCAF2psi-mi:“MI:0914”(association)0.350
GPR182METTL15psi-mi:“MI:0914”(association)0.350
OPRL1METTL15psi-mi:“MI:0914”(association)0.350
CRLF2METTL15psi-mi:“MI:0914”(association)0.350
GLMPRTL8Cpsi-mi:“MI:0914”(association)0.350
SLC22A4RTL8Cpsi-mi:“MI:0914”(association)0.350
AQP3RTL8Cpsi-mi:“MI:0914”(association)0.350
CMTM8UBXN8psi-mi:“MI:0914”(association)0.350

BioGRID (81): ABHD17B (Affinity Capture-MS), ABHD17B (Affinity Capture-MS), ABHD17B (Affinity Capture-MS), ABHD17B (Affinity Capture-MS), ABHD17B (Affinity Capture-MS), ABHD17B (Affinity Capture-MS), ABHD17B (Affinity Capture-MS), ABHD17B (Affinity Capture-MS), ABHD17B (Affinity Capture-MS), ABHD17B (Affinity Capture-MS), ABHD17B (Affinity Capture-MS), ABHD17B (Affinity Capture-MS), ABHD17B (Affinity Capture-MS), ABHD17B (Affinity Capture-MS), ABHD17B (Affinity Capture-MS)

ESM2 similar proteins: A1Z6E0, A2BHJ4, A8IU92, B0X9V1, B3MDR0, B3NRP1, B4F739, B4GBN7, B4HQ29, B4J6Q0, B4KNC5, B4LMQ3, B4MR59, B4P4K8, B4QE02, P00860, P0C2W1, P0CH38, P11926, P27117, P27119, P27120, P48455, P53041, P53042, Q0G819, Q16XV7, Q290L5, Q5BJ41, Q5E9X6, Q5VST6, Q5XH73, Q60676, Q68FK8, Q6AXU9, Q6AY17, Q6IR85, Q6NZ03, Q7M759, Q7QGL9

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, P54069, Q08C93, Q32LS6, Q7Z5M8, Q8Z4M8, Q8ZN39, B4F753, Q08DW9, Q4R766, Q5ZIN0, Q6AYT7, Q8N2K0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 111 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:

PathwayPartnersFoldFDR
SLC-mediated transmembrane transport97.1×7e-04
Peptide ligand-binding receptors76.9×7e-03

GO biological processes:

GO termPartnersFoldFDR
G protein-coupled receptor signaling pathway155.5×6e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic7
Likely pathogenic4
Uncertain significance28
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (11)

Variant IDHGVSClassification
148901GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1Pathogenic
1527488GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)Pathogenic
153561GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4Pathogenic
154945GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3Pathogenic
441750GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4Pathogenic
442687GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3Pathogenic
563680GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1Pathogenic
155686GRCh38/hg38 9q21.11-21.13(chr9:68624483-72028837)x3Likely pathogenic
443719GRCh37/hg19 9q21.11-21.13(chr9:71079379-75905808)x1Likely pathogenic
4796343GRCh38/hg38 9p24.3-q21.13(chr9:208455-72054336)x3Likely pathogenic
617751Single alleleLikely pathogenic

SpliceAI

1116 predictions. Top by Δscore:

VariantEffectΔscore
9:71867005:TG:Tacceptor_gain1.0000
9:71867007:C:CCacceptor_gain1.0000
9:71870081:A:ACdonor_gain1.0000
9:71870082:C:CCdonor_gain1.0000
9:71870277:CGT:Cacceptor_gain1.0000
9:71870278:G:Cacceptor_gain1.0000
9:71870279:T:Cacceptor_gain1.0000
9:71870279:T:TCacceptor_gain1.0000
9:71876436:T:Cacceptor_gain1.0000
9:71866803:T:TAdonor_gain0.9900
9:71866816:A:ACdonor_gain0.9900
9:71866817:C:CCdonor_gain0.9900
9:71866837:A:ACdonor_gain0.9900
9:71866838:C:CCdonor_gain0.9900
9:71866841:T:Adonor_gain0.9900
9:71866875:TCA:Tdonor_gain0.9900
9:71867002:CAATG:Cacceptor_gain0.9900
9:71867003:AATG:Aacceptor_gain0.9900
9:71867004:ATG:Aacceptor_gain0.9900
9:71867004:ATGC:Aacceptor_loss0.9900
9:71867005:TGC:Tacceptor_loss0.9900
9:71867006:GCTG:Gacceptor_loss0.9900
9:71867007:C:Gacceptor_loss0.9900
9:71867008:T:Gacceptor_loss0.9900
9:71870075:CTACT:Cdonor_loss0.9900
9:71870076:TACTT:Tdonor_loss0.9900
9:71870077:ACTTA:Adonor_loss0.9900
9:71870078:CTTAC:Cdonor_loss0.9900
9:71870079:TTACT:Tdonor_loss0.9900
9:71870080:TA:Tdonor_loss0.9900

AlphaMissense

1877 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
9:71866848:A:GL269P1.000
9:71866852:C:TE268K1.000
9:71866857:T:AD266V1.000
9:71866857:T:GD266A1.000
9:71866858:C:GD266H1.000
9:71866859:A:CN265K1.000
9:71866859:A:TN265K1.000
9:71866862:G:CH264Q1.000
9:71866862:G:TH264Q1.000
9:71866863:T:AH264L1.000
9:71866863:T:CH264R1.000
9:71866864:G:AH264Y1.000
9:71866864:G:CH264D1.000
9:71866864:G:TH264N1.000
9:71866878:A:TV259D1.000
9:71866882:A:GW258R1.000
9:71866882:A:TW258R1.000
9:71866884:A:GL257P1.000
9:71866926:C:TG243D1.000
9:71866927:C:GG243R1.000
9:71866941:A:TI238N1.000
9:71866949:A:CD235E1.000
9:71866949:A:TD235E1.000
9:71866950:T:AD235V1.000
9:71866950:T:CD235G1.000
9:71866950:T:GD235A1.000
9:71866951:C:AD235Y1.000
9:71866951:C:GD235H1.000
9:71866951:C:TD235N1.000
9:71866959:C:AG232V1.000

dbSNP variants (sampled 300 via entrez): RS1000038299 (9:71899802 T>C), RS1000112537 (9:71902211 G>A), RS1000209857 (9:71862381 C>T), RS1000231577 (9:71882056 A>G), RS1000261055 (9:71905285 G>A), RS1000282953 (9:71868181 T>C), RS1000343704 (9:71861976 G>A), RS1000345783 (9:71887732 C>G), RS1000453352 (9:71886140 T>C), RS1000547706 (9:71880741 T>C), RS1000588238 (9:71885703 A>T), RS1000590999 (9:71862705 A>C,G,T), RS1000642008 (9:71863031 A>G), RS1000652788 (9:71904573 T>A), RS1000673458 (9:71875662 T>C)

Disease associations

OMIM: gene MIM:617943 | disease phenotypes:

GenCC curated gene-disease

Mondo (2): congenital heart disease (MONDO:0005453), glioma (MONDO:0021042)

Orphanet (1): Glial tumor (Orphanet:182067)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

DescriptorNameTree numbers
D005910GliomaC04.557.465.625.600.380; C04.557.470.670.380; C04.557.580.625.600.380
D006330Heart Defects, CongenitalC14.240.400; C14.280.400; C16.131.240.400

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2189132 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, decreases expression, affects expression, decreases methylation5
trichostatin Adecreases expression, affects expression2
Phenylmercuric Acetateaffects cotreatment, decreases expression2
Tobacco Smoke Pollutionincreases expression2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamidedecreases expression1
FR900359increases phosphorylation1
triphenyl phosphateaffects expression1
2-methyl-4-isothiazolin-3-oneincreases expression1
sodium arsenitedecreases expression, increases abundance1
di-n-butylphosphoric acidaffects expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamidedecreases expression, affects cotreatment1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amideaffects cotreatment, decreases expression1
dorsomorphinaffects cotreatment, decreases expression1
Sunitinibdecreases expression1
Acetaminophenincreases expression1
Air Pollutantsdecreases expression, increases abundance1
Arsenicdecreases expression, increases abundance1
Coaldecreases expression, increases abundance1
Doxorubicindecreases expression1
Estradiolincreases expression1
Formaldehydedecreases expression1
Smokedecreases expression, increases abundance1
Tetrachlorodibenzodioxinaffects cotreatment, decreases expression1
Thimerosalincreases expression1
Urethaneincreases expression1
Cyclosporinedecreases expression1
Aflatoxin B1decreases methylation1
Antirheumatic Agentsincreases expression1
Okadaic Acidincreases expression1
Copper Sulfateincreases expression1

ChEMBL screening assays

3 unique, capped per target: 3 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL2209093BindingInhibition of FAM108B1 binding to FP-biotin in [12C][14N]-lysine, arginine and [13C6][15N2]-lysine, arginine labeled HEK293T cells at 20 uM after 1 hr by isotopic activity-based protein profiling-MudPIT assayDiscovery and optimization of sulfonyl acrylonitriles as selective, covalent inhibitors of protein phosphatase methylesterase-1. — J Med Chem

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00668824PHASE4UNKNOWNImproved Diagnosis of Congenital Heart Disease by Magnetic Resonance Imaging Using Vasovist
NCT01368705PHASE4COMPLETEDNitrogen Balance in Infants After Post Cardiothoracic Surgery
NCT01619982PHASE4COMPLETEDPre-operative Prophylaxis With Vancomycin and Cefazolin in Pediatric Cardiovascular Surgery Patients
NCT02122679PHASE4WITHDRAWNTranexamic Acid Effect on Platelet Aggregation Following Infant Cardiopulmonary Bypass
NCT02527811PHASE4UNKNOWNUlinastatin Injection in in Pediatric Patients Undergoing Open Heart Surgery
NCT03014700PHASE4COMPLETEDFibrinogen Concentrate vs Cryoprecipitate
NCT03408340PHASE4TERMINATEDParavertebral Nerve Blocks in Neonates
NCT03630796PHASE4UNKNOWNEffect of Sevoflurane in Postoperative Troponin I Levels in Children Undergoing Congenital Heart Defects Surgery
NCT03667703PHASE4COMPLETEDStress Ulcer Prophylaxis Versus Placebo in Critically Ill Infants With Congenital Heart Disease
NCT04453761PHASE4UNKNOWNThiamine Influenced on Substrate Energy Effectiveness in Indonesian Children Undergoing Cardiopulmonary Bypass
NCT06668389PHASE4RECRUITINGSodium-Glucose Cotransporter 2 Inhibitors for Repaired Tetralogy of Fallot Patients for Enhancement of Cardio-Pulmonary Status Trial
NCT07499154PHASE4NOT_YET_RECRUITINGPerioperative Lidocaine for Lung Protection in Infants Undergoing Cardiac Surgery
NCT00000470PHASE3COMPLETEDInfant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest
NCT00000494PHASE3COMPLETEDManagement of Patent Ductus in Premature Infants
NCT01134302PHASE3UNKNOWNHybrid Versus Norwood Management Strategies in Infants Undergoing Single Ventricle Palliation
NCT01607983PHASE3WITHDRAWNEffects of Pulmonary Vasodilation Upon VA Coupling in Fontan Patients
NCT01662011PHASE3UNKNOWNApplication of Neurally Adjusted Ventilatory Assist to Children After Congenital Cardiac Surgery
NCT02320669PHASE3COMPLETEDPhase 3 Triiodothyronine Supplementation for Infants After Cardiopulmonary Bypass
NCT02615262PHASE3COMPLETEDIntraoperative Dexamethasone in Pediatric Cardiac Surgery
NCT03153137PHASE3COMPLETEDClinical Study Assessing the Efficacy and Safety of Macitentan in Fontan-palliated Subjects
NCT03154476PHASE3COMPLETEDRole of Sildenafil for Fontan Associated Liver Disease (SiFALD) Study
NCT04536194PHASE3COMPLETEDDopamine Versus Norepinephrine Under General Anesthesia
NCT04702373PHASE3ACTIVE_NOT_RECRUITINGTraining in Exercise Activities and Motion for Growth (TEAM 4 Growth) RCT
NCT05049590PHASE3COMPLETEDAcute Normovolemic Hemodilution in Complex Cardiac Surgery
NCT06406517PHASE3UNKNOWNComparative Effectiveness of Gadopiclenol for Evaluation of Adult Congenital Heart Anatomy and Hemodynamics
NCT06693674PHASE3RECRUITINGEffect of Sacubitril-Valsartan on Cardiac Structure and Function
NCT06955260PHASE3NOT_YET_RECRUITINGSGLT2 Inhibition With Empagliflozin in Fontan Circulatory Failure
NCT00115375PHASE2COMPLETEDPlatelet Aggregation Inhibition in Children on Clopidogrel (PICOLO)
NCT00350220PHASE2COMPLETEDTransfusion Strategies in Pediatric Cardiothoracic Surgery
NCT00374088PHASE2COMPLETEDN-Acetylcysteine in Neonatal Congenital Heart Surgery (INACT Study)
NCT00538785PHASE2COMPLETEDA Study to Evaluate MEDI-524 In Children With Hemodynamically Significant Congenital Heart Disease
NCT00770705PHASE2WITHDRAWNParenteral Phenoxybenzamine During Congenital Heart Disease Surgery
NCT00919945PHASE2TERMINATEDImpact of Early Enteral Feeding on Splanchnic Blood Flow After Surgery for Critical Heart Disease in the Newborn
NCT01063712PHASE2COMPLETEDSafety and Effectiveness of the Device Nit-Occlud® PDA-R
NCT01069510PHASE2COMPLETEDSpironolactone in Adult Congenital Heart Disease
NCT01189981PHASE2COMPLETEDEffect of eHealth Encouragements to Intensive Exercise in Adolescents With Congenital Heart Disease
NCT01330433PHASE2COMPLETEDEffects of CoSeal on Bleeding & Adhesions in Pediatric Heart Surgery
NCT01662037PHASE2COMPLETEDBosentan Therapy in Children With Functional Single Ventricle
NCT01668264PHASE2UNKNOWNImaging Assessment of Diastolic Function
NCT01827059PHASE2UNKNOWNBosentan In Exercise Induced Pulmonary Arterial Hypertension in CongenitaL Heart diseasE
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): glioma