ABHD17B
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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
| Field | Value |
|---|---|
| HGNC ID | HGNC:24278 |
| Approved symbol | ABHD17B |
| Name | abhydrolase domain containing 17B, depalmitoylase |
| Location | 9q21.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CGI-67 |
| Ensembl gene | ENSG00000107362 |
| Ensembl biotype | protein_coding |
| OMIM | 617943 |
| Entrez | 51104 |
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
| Exon | Start | End |
|---|---|---|
| ENSE00001161970 | 71870083 | 71870262 |
| ENSE00001308379 | 71865152 | 71867006 |
| ENSE00001327650 | 71874614 | 71875083 |
| ENSE00001821356 | 71910634 | 71911193 |
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 ID | TPM avg | Samples expressed |
|---|---|---|
| 100935 | 11.3008 | 1763 |
| 100934 | 0.9719 | 619 |
| 100933 | 0.7484 | 412 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 98.48 | gold quality |
| secondary oocyte | CL:0000655 | 98.26 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 96.52 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.51 | gold quality |
| amniotic fluid | UBERON:0000173 | 95.35 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 95.29 | gold quality |
| bronchial epithelial cell | CL:0002328 | 95.24 | gold quality |
| gingival epithelium | UBERON:0001949 | 95.03 | gold quality |
| oocyte | CL:0000023 | 94.98 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 94.81 | gold quality |
| buccal mucosa cell | CL:0002336 | 94.72 | gold quality |
| jejunal mucosa | UBERON:0000399 | 94.56 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 94.44 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 94.36 | gold quality |
| gingiva | UBERON:0001828 | 93.71 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 93.49 | gold quality |
| colonic mucosa | UBERON:0000317 | 93.08 | gold quality |
| oral cavity | UBERON:0000167 | 92.53 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 92.41 | gold quality |
| visceral pleura | UBERON:0002401 | 92.36 | gold quality |
| postcentral gyrus | UBERON:0002581 | 91.99 | gold quality |
| entorhinal cortex | UBERON:0002728 | 91.96 | gold quality |
| corpus callosum | UBERON:0002336 | 91.91 | gold quality |
| parietal pleura | UBERON:0002400 | 91.88 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 91.75 | gold quality |
| ventral tegmental area | UBERON:0002691 | 91.68 | gold quality |
| parietal lobe | UBERON:0001872 | 91.38 | gold quality |
| globus pallidus | UBERON:0001875 | 91.35 | gold quality |
| medial globus pallidus | UBERON:0002477 | 90.98 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 90.94 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
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):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-488-3P | 99.61 | 68.79 | 1731 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-1276 | 99.36 | 68.18 | 1642 |
| HSA-MIR-185-5P | 99.35 | 68.60 | 2497 |
| HSA-MIR-4644 | 99.35 | 69.12 | 2514 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-1253 | 99.12 | 67.08 | 1688 |
| HSA-MIR-583 | 98.71 | 67.44 | 1791 |
| HSA-MIR-5192 | 96.89 | 63.35 | 879 |
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
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | abhd17b | ENSDARG00000035571 |
| mus_musculus | Abhd17b | ENSMUSG00000047368 |
| rattus_norvegicus | Abhd17b | ENSRNOG00000012514 |
| caenorhabditis_elegans | WBGENE00008497 | |
| caenorhabditis_elegans | WBGENE00008498 |
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 17B — Q5VST6 (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 ID | Names | Canonical? |
|---|---|---|
| Q5VST6-1 | 1 | yes |
| Q5VST6-2 | 2 |
RefSeq proteins (2): NP_001020951, NP_057098 (=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 (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)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5VST6-F1 | 92.51 | 0.84 |
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
| 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: 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:
| 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 |
|---|---|
| cellular anatomical structure | 2 |
| postsynapse | 2 |
| protein deacylation | 1 |
| lipoprotein catabolic process | 1 |
| macromolecule depalmitoylation | 1 |
| regulation of synapse organization | 1 |
| postsynapse organization | 1 |
| regulation of protein localization | 1 |
| protein localization to synapse | 1 |
| protein localization to microtubule | 1 |
| regulation of protein localization to microtubule | 1 |
| negative regulation of protein localization | 1 |
| dendritic spine maintenance | 1 |
| regulation of postsynapse organization | 1 |
| regulation of plasma membrane bounded cell projection organization | 1 |
| protein localization to endosome | 1 |
| positive regulation of protein localization | 1 |
| regulation of protein localization to endosome | 1 |
| macromolecule deacylation | 1 |
| thiolester hydrolase activity | 1 |
| palmitoyl hydrolase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| catalytic activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
| endosome | 1 |
| cytoplasmic vesicle membrane | 1 |
| bounding membrane of organelle | 1 |
| dendrite | 1 |
| neuron spine | 1 |
| endosome membrane | 1 |
| recycling endosome | 1 |
| postsynaptic density | 1 |
| postsynaptic membrane | 1 |
| postsynaptic specialization membrane | 1 |
| postsynaptic recycling endosome | 1 |
| postsynaptic endosome membrane | 1 |
| synapse | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
Protein interactions and networks
STRING
616 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ABHD17B | ABHD10 | Q9NUJ1 | 589 |
| ABHD17B | C9orf57 | Q5W0N0 | 577 |
| ABHD17B | RBBP9 | O75884 | 541 |
| ABHD17B | LYPLA1 | O75608 | 500 |
| ABHD17B | LYPLA2 | O95372 | 500 |
| ABHD17B | AFMID | Q63HM1 | 497 |
| ABHD17B | PPME1 | Q9Y570 | 493 |
| ABHD17B | LYPLAL1 | Q5VWZ2 | 483 |
| ABHD17B | ABHD6 | Q9BV23 | 480 |
| ABHD17B | ABHD11 | Q8NFV4 | 463 |
| ABHD17B | ABHD16A | O95870 | 459 |
| ABHD17B | PPT2 | Q9UMR5 | 449 |
| ABHD17B | PPT1 | P50897 | 449 |
| ABHD17B | PAFAH1B2 | P68402 | 447 |
| ABHD17B | ACOT4 | Q8N9L9 | 446 |
IntAct
68 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DYNLT2B | DYNLT1 | psi-mi:“MI:0914”(association) | 0.790 |
| TRIM16L | CCDC22 | psi-mi:“MI:0914”(association) | 0.640 |
| FAM174A | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| TOR1AIP2 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| CXCR4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| MAS1 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| APLNR | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC2A12 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| DEFA1 | MANBA | psi-mi:“MI:0914”(association) | 0.530 |
| NRBP1 | TBC1D4 | psi-mi:“MI:0914”(association) | 0.530 |
| DYNLT2B | SNX2 | psi-mi:“MI:0914”(association) | 0.530 |
| MFSD4A | HIP1R | psi-mi:“MI:0914”(association) | 0.530 |
| PRG3 | ZNF324 | psi-mi:“MI:0914”(association) | 0.530 |
| SFTA2 | TBCE | psi-mi:“MI:0914”(association) | 0.530 |
| APLNR | SLC33A1 | psi-mi:“MI:0914”(association) | 0.530 |
| GPR17 | IPO8 | psi-mi:“MI:0914”(association) | 0.530 |
| Npc1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| AVPR2 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR17 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| CD80 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| A4GALT | VPS37C | psi-mi:“MI:0914”(association) | 0.350 |
| C5AR1 | TCAF2 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR182 | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| OPRL1 | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| CRLF2 | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| GLMP | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A4 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| AQP3 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| CMTM8 | UBXN8 | psi-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:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| SLC-mediated transmembrane transport | 9 | 7.1× | 7e-04 |
| Peptide ligand-binding receptors | 7 | 6.9× | 7e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| G protein-coupled receptor signaling pathway | 15 | 5.5× | 6e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
45 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 7 |
| Likely pathogenic | 4 |
| Uncertain significance | 28 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (11)
| Variant ID | HGVS | Classification |
|---|---|---|
| 148901 | GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1 | Pathogenic |
| 1527488 | GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) | Pathogenic |
| 153561 | GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 | Pathogenic |
| 154945 | GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 | Pathogenic |
| 441750 | GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 | Pathogenic |
| 442687 | GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3 | Pathogenic |
| 563680 | GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1 | Pathogenic |
| 155686 | GRCh38/hg38 9q21.11-21.13(chr9:68624483-72028837)x3 | Likely pathogenic |
| 443719 | GRCh37/hg19 9q21.11-21.13(chr9:71079379-75905808)x1 | Likely pathogenic |
| 4796343 | GRCh38/hg38 9p24.3-q21.13(chr9:208455-72054336)x3 | Likely pathogenic |
| 617751 | Single allele | Likely pathogenic |
SpliceAI
1116 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:71867005:TG:T | acceptor_gain | 1.0000 |
| 9:71867007:C:CC | acceptor_gain | 1.0000 |
| 9:71870081:A:AC | donor_gain | 1.0000 |
| 9:71870082:C:CC | donor_gain | 1.0000 |
| 9:71870277:CGT:C | acceptor_gain | 1.0000 |
| 9:71870278:G:C | acceptor_gain | 1.0000 |
| 9:71870279:T:C | acceptor_gain | 1.0000 |
| 9:71870279:T:TC | acceptor_gain | 1.0000 |
| 9:71876436:T:C | acceptor_gain | 1.0000 |
| 9:71866803:T:TA | donor_gain | 0.9900 |
| 9:71866816:A:AC | donor_gain | 0.9900 |
| 9:71866817:C:CC | donor_gain | 0.9900 |
| 9:71866837:A:AC | donor_gain | 0.9900 |
| 9:71866838:C:CC | donor_gain | 0.9900 |
| 9:71866841:T:A | donor_gain | 0.9900 |
| 9:71866875:TCA:T | donor_gain | 0.9900 |
| 9:71867002:CAATG:C | acceptor_gain | 0.9900 |
| 9:71867003:AATG:A | acceptor_gain | 0.9900 |
| 9:71867004:ATG:A | acceptor_gain | 0.9900 |
| 9:71867004:ATGC:A | acceptor_loss | 0.9900 |
| 9:71867005:TGC:T | acceptor_loss | 0.9900 |
| 9:71867006:GCTG:G | acceptor_loss | 0.9900 |
| 9:71867007:C:G | acceptor_loss | 0.9900 |
| 9:71867008:T:G | acceptor_loss | 0.9900 |
| 9:71870075:CTACT:C | donor_loss | 0.9900 |
| 9:71870076:TACTT:T | donor_loss | 0.9900 |
| 9:71870077:ACTTA:A | donor_loss | 0.9900 |
| 9:71870078:CTTAC:C | donor_loss | 0.9900 |
| 9:71870079:TTACT:T | donor_loss | 0.9900 |
| 9:71870080:TA:T | donor_loss | 0.9900 |
AlphaMissense
1877 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:71866848:A:G | L269P | 1.000 |
| 9:71866852:C:T | E268K | 1.000 |
| 9:71866857:T:A | D266V | 1.000 |
| 9:71866857:T:G | D266A | 1.000 |
| 9:71866858:C:G | D266H | 1.000 |
| 9:71866859:A:C | N265K | 1.000 |
| 9:71866859:A:T | N265K | 1.000 |
| 9:71866862:G:C | H264Q | 1.000 |
| 9:71866862:G:T | H264Q | 1.000 |
| 9:71866863:T:A | H264L | 1.000 |
| 9:71866863:T:C | H264R | 1.000 |
| 9:71866864:G:A | H264Y | 1.000 |
| 9:71866864:G:C | H264D | 1.000 |
| 9:71866864:G:T | H264N | 1.000 |
| 9:71866878:A:T | V259D | 1.000 |
| 9:71866882:A:G | W258R | 1.000 |
| 9:71866882:A:T | W258R | 1.000 |
| 9:71866884:A:G | L257P | 1.000 |
| 9:71866926:C:T | G243D | 1.000 |
| 9:71866927:C:G | G243R | 1.000 |
| 9:71866941:A:T | I238N | 1.000 |
| 9:71866949:A:C | D235E | 1.000 |
| 9:71866949:A:T | D235E | 1.000 |
| 9:71866950:T:A | D235V | 1.000 |
| 9:71866950:T:C | D235G | 1.000 |
| 9:71866950:T:G | D235A | 1.000 |
| 9:71866951:C:A | D235Y | 1.000 |
| 9:71866951:C:G | D235H | 1.000 |
| 9:71866951:C:T | D235N | 1.000 |
| 9:71866959:C:A | G232V | 1.000 |
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)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D005910 | Glioma | C04.557.465.625.600.380; C04.557.470.670.380; C04.557.580.625.600.380 |
| D006330 | Heart Defects, Congenital | C14.240.400; 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.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, decreases methylation | 5 |
| trichostatin A | decreases expression, affects expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| sodium arsenite | decreases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Coal | decreases expression, increases abundance | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Smoke | decreases expression, increases abundance | 1 |
| Tetrachlorodibenzodioxin | affects cotreatment, decreases expression | 1 |
| Thimerosal | increases expression | 1 |
| Urethane | increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Copper Sulfate | increases expression | 1 |
ChEMBL screening assays
3 unique, capped per target: 3 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL2209093 | Binding | Inhibition 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 assay | Discovery 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.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00668824 | PHASE4 | UNKNOWN | Improved Diagnosis of Congenital Heart Disease by Magnetic Resonance Imaging Using Vasovist |
| NCT01368705 | PHASE4 | COMPLETED | Nitrogen Balance in Infants After Post Cardiothoracic Surgery |
| NCT01619982 | PHASE4 | COMPLETED | Pre-operative Prophylaxis With Vancomycin and Cefazolin in Pediatric Cardiovascular Surgery Patients |
| NCT02122679 | PHASE4 | WITHDRAWN | Tranexamic Acid Effect on Platelet Aggregation Following Infant Cardiopulmonary Bypass |
| NCT02527811 | PHASE4 | UNKNOWN | Ulinastatin Injection in in Pediatric Patients Undergoing Open Heart Surgery |
| NCT03014700 | PHASE4 | COMPLETED | Fibrinogen Concentrate vs Cryoprecipitate |
| NCT03408340 | PHASE4 | TERMINATED | Paravertebral Nerve Blocks in Neonates |
| NCT03630796 | PHASE4 | UNKNOWN | Effect of Sevoflurane in Postoperative Troponin I Levels in Children Undergoing Congenital Heart Defects Surgery |
| NCT03667703 | PHASE4 | COMPLETED | Stress Ulcer Prophylaxis Versus Placebo in Critically Ill Infants With Congenital Heart Disease |
| NCT04453761 | PHASE4 | UNKNOWN | Thiamine Influenced on Substrate Energy Effectiveness in Indonesian Children Undergoing Cardiopulmonary Bypass |
| NCT06668389 | PHASE4 | RECRUITING | Sodium-Glucose Cotransporter 2 Inhibitors for Repaired Tetralogy of Fallot Patients for Enhancement of Cardio-Pulmonary Status Trial |
| NCT07499154 | PHASE4 | NOT_YET_RECRUITING | Perioperative Lidocaine for Lung Protection in Infants Undergoing Cardiac Surgery |
| NCT00000470 | PHASE3 | COMPLETED | Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest |
| NCT00000494 | PHASE3 | COMPLETED | Management of Patent Ductus in Premature Infants |
| NCT01134302 | PHASE3 | UNKNOWN | Hybrid Versus Norwood Management Strategies in Infants Undergoing Single Ventricle Palliation |
| NCT01607983 | PHASE3 | WITHDRAWN | Effects of Pulmonary Vasodilation Upon VA Coupling in Fontan Patients |
| NCT01662011 | PHASE3 | UNKNOWN | Application of Neurally Adjusted Ventilatory Assist to Children After Congenital Cardiac Surgery |
| NCT02320669 | PHASE3 | COMPLETED | Phase 3 Triiodothyronine Supplementation for Infants After Cardiopulmonary Bypass |
| NCT02615262 | PHASE3 | COMPLETED | Intraoperative Dexamethasone in Pediatric Cardiac Surgery |
| NCT03153137 | PHASE3 | COMPLETED | Clinical Study Assessing the Efficacy and Safety of Macitentan in Fontan-palliated Subjects |
| NCT03154476 | PHASE3 | COMPLETED | Role of Sildenafil for Fontan Associated Liver Disease (SiFALD) Study |
| NCT04536194 | PHASE3 | COMPLETED | Dopamine Versus Norepinephrine Under General Anesthesia |
| NCT04702373 | PHASE3 | ACTIVE_NOT_RECRUITING | Training in Exercise Activities and Motion for Growth (TEAM 4 Growth) RCT |
| NCT05049590 | PHASE3 | COMPLETED | Acute Normovolemic Hemodilution in Complex Cardiac Surgery |
| NCT06406517 | PHASE3 | UNKNOWN | Comparative Effectiveness of Gadopiclenol for Evaluation of Adult Congenital Heart Anatomy and Hemodynamics |
| NCT06693674 | PHASE3 | RECRUITING | Effect of Sacubitril-Valsartan on Cardiac Structure and Function |
| NCT06955260 | PHASE3 | NOT_YET_RECRUITING | SGLT2 Inhibition With Empagliflozin in Fontan Circulatory Failure |
| NCT00115375 | PHASE2 | COMPLETED | Platelet Aggregation Inhibition in Children on Clopidogrel (PICOLO) |
| NCT00350220 | PHASE2 | COMPLETED | Transfusion Strategies in Pediatric Cardiothoracic Surgery |
| NCT00374088 | PHASE2 | COMPLETED | N-Acetylcysteine in Neonatal Congenital Heart Surgery (INACT Study) |
| NCT00538785 | PHASE2 | COMPLETED | A Study to Evaluate MEDI-524 In Children With Hemodynamically Significant Congenital Heart Disease |
| NCT00770705 | PHASE2 | WITHDRAWN | Parenteral Phenoxybenzamine During Congenital Heart Disease Surgery |
| NCT00919945 | PHASE2 | TERMINATED | Impact of Early Enteral Feeding on Splanchnic Blood Flow After Surgery for Critical Heart Disease in the Newborn |
| NCT01063712 | PHASE2 | COMPLETED | Safety and Effectiveness of the Device Nit-Occlud® PDA-R |
| NCT01069510 | PHASE2 | COMPLETED | Spironolactone in Adult Congenital Heart Disease |
| NCT01189981 | PHASE2 | COMPLETED | Effect of eHealth Encouragements to Intensive Exercise in Adolescents With Congenital Heart Disease |
| NCT01330433 | PHASE2 | COMPLETED | Effects of CoSeal on Bleeding & Adhesions in Pediatric Heart Surgery |
| NCT01662037 | PHASE2 | COMPLETED | Bosentan Therapy in Children With Functional Single Ventricle |
| NCT01668264 | PHASE2 | UNKNOWN | Imaging Assessment of Diastolic Function |
| NCT01827059 | PHASE2 | UNKNOWN | Bosentan In Exercise Induced Pulmonary Arterial Hypertension in CongenitaL Heart diseasE |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): glioma