GPATCH8
gene geneOn this page
Summary
GPATCH8 (G-patch domain containing 8, HGNC:29066) is a protein-coding gene on chromosome 17q21.31, encoding G patch domain-containing protein 8 (Q9UKJ3).
The protein encoded by this gene contains an RNA-processing domain, a zinc finger domain, a lysine-rich region and a serine-rich region. A mutation in the serine-rich region of the protein is thought to be associated with hyperuricemia (PMID: 21594610). Alternative splicing results in multiple transcript variants encoding different isoforms.
Source: NCBI Gene 23131 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 202 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_001002909
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29066 |
| Approved symbol | GPATCH8 |
| Name | G-patch domain containing 8 |
| Location | 17q21.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000186566 |
| Ensembl biotype | protein_coding |
| OMIM | 614396 |
| Entrez | 23131 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 5 protein_coding, 4 retained_intron, 4 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000335500, ENST00000585614, ENST00000586037, ENST00000586265, ENST00000587228, ENST00000588554, ENST00000590041, ENST00000591680, ENST00000592154, ENST00000592746, ENST00000635257, ENST00000928548, ENST00000928549, ENST00000928550
RefSeq mRNA: 6 — MANE Select: NM_001002909
NM_001002909, NM_001304939, NM_001304940, NM_001304941, NM_001304942, NM_001304943
CCDS: CCDS32666
Canonical transcript exons
ENST00000591680 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003477376 | 44395281 | 44401453 |
| ENSE00003520559 | 44464472 | 44464544 |
| ENSE00003535829 | 44424349 | 44424492 |
| ENSE00003599247 | 44474829 | 44474903 |
| ENSE00003606039 | 44503326 | 44503406 |
| ENSE00003627203 | 44436478 | 44436545 |
| ENSE00003644528 | 44405921 | 44406051 |
| ENSE00003677877 | 44435065 | 44435151 |
Expression profiles
Bgee: expression breadth ubiquitous, 287 present calls, max score 96.18.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.6575 / max 251.8593, expressed in 1808 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 166382 | 11.6549 | 1771 |
| 166385 | 6.0120 | 1583 |
| 166384 | 1.7096 | 811 |
| 166383 | 0.2810 | 115 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 96.18 | gold quality |
| secondary oocyte | CL:0000655 | 95.45 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.88 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 94.80 | gold quality |
| cerebellar cortex | UBERON:0002129 | 94.68 | gold quality |
| cerebellum | UBERON:0002037 | 93.98 | gold quality |
| olfactory bulb | UBERON:0002264 | 93.32 | gold quality |
| gastrocnemius | UBERON:0001388 | 93.16 | gold quality |
| calcaneal tendon | UBERON:0003701 | 93.06 | gold quality |
| nipple | UBERON:0002030 | 92.98 | gold quality |
| muscle of leg | UBERON:0001383 | 92.97 | gold quality |
| colonic epithelium | UBERON:0000397 | 92.89 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 92.51 | gold quality |
| pylorus | UBERON:0001166 | 92.39 | gold quality |
| inferior olivary complex | UBERON:0002127 | 92.36 | gold quality |
| cardia of stomach | UBERON:0001162 | 91.89 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 91.83 | gold quality |
| tendon | UBERON:0000043 | 91.56 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 91.29 | gold quality |
| type B pancreatic cell | CL:0000169 | 91.28 | gold quality |
| muscle organ | UBERON:0001630 | 91.19 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 90.99 | gold quality |
| ventricular zone | UBERON:0003053 | 90.90 | gold quality |
| visceral pleura | UBERON:0002401 | 90.68 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 90.64 | gold quality |
| primary visual cortex | UBERON:0002436 | 90.56 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 90.51 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 90.45 | gold quality |
| corpus callosum | UBERON:0002336 | 90.44 | gold quality |
| tibialis anterior | UBERON:0001385 | 90.40 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.83 |
| E-CURD-135 | no | 695.46 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
200 targeting GPATCH8, 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-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
Literature-anchored findings (GeneRIF, showing 2)
- Two missense single-nucleotide variants in ZPBP2 and GPATCH8 on chromosome 17 were identified that cosegregated with hyperuricemia in the Japanese family. (PMID:21594610)
- GPATCH8 modulates mutant SF3B1 mis-splicing and pathogenicity in hematologic malignancies. (PMID:38688280)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gpatch8 | ENSDARG00000059768 |
| mus_musculus | Gpatch8 | ENSMUSG00000034621 |
| rattus_norvegicus | Gpatch8 | ENSRNOG00000021044 |
Paralogs (2): ZNF804A (ENSG00000170396), ZNF804B (ENSG00000182348)
Protein
Protein identifiers
G patch domain-containing protein 8 — Q9UKJ3 (reviewed: Q9UKJ3)
All UniProt accessions (3): K7EKU0, K7EQK8, Q9UKJ3
UniProt curated annotations — full annotation on UniProt →
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UKJ3-1 | 1 | yes |
| Q9UKJ3-2 | 2 | |
| Q9UKJ3-3 | 3 |
RefSeq proteins (5): NP_001002909, NP_001291868, NP_001291869, NP_001291870, NP_001291871 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000467 | G_patch_dom | Domain |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR052445 | ZNF804A-like/GPATCH8 | Family |
Pfam: PF01585
UniProt features (60 total): compositionally biased region 21, modified residue 16, sequence variant 5, region of interest 4, sequence conflict 4, cross-link 3, splice variant 3, chain 1, domain 1, zinc finger region 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UKJ3-F1 | 46.49 | 0.05 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (19): 479, 491, 653, 738, 740, 758, 911, 914, 981, 1009, 1014, 1033, 1035, 1081, 1107, 1175, 311, 577, 1105
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 163 (showing top):
MORF_FLT1, MORF_MSH3, DACOSTA_UV_RESPONSE_VIA_ERCC3_XPCS_DN, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, TTTGTAG_MIR520D, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, MORF_BRCA1, MORF_ATRX, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, MORF_ESR1, TTGGGAG_MIR150, GTGCCTT_MIR506, DACOSTA_UV_RESPONSE_VIA_ERCC3_TTD_DN, GOBP_RNA_SPLICING, GGCAGTG_MIR3243P
GO Biological Process (2): mRNA splicing, via spliceosome (GO:0000398), hemopoiesis (GO:0030097)
GO Molecular Function (6): RNA binding (GO:0003723), mRNA binding (GO:0003729), zinc ion binding (GO:0008270), nucleic acid binding (GO:0003676), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (1): nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 1 |
| mRNA processing | 1 |
| cell development | 1 |
| nucleic acid binding | 1 |
| RNA binding | 1 |
| transition metal ion binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
980 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GPATCH8 | DDA1 | Q9BW61 | 475 |
| GPATCH8 | PCDHB13 | Q9Y5F0 | 390 |
| GPATCH8 | WDR6 | Q9NNW5 | 371 |
| GPATCH8 | UBE4B | O95155 | 368 |
| GPATCH8 | RUNDC1 | Q96C34 | 354 |
| GPATCH8 | PYM1 | Q9BRP8 | 354 |
| GPATCH8 | GPRIN1 | Q7Z2K8 | 342 |
| GPATCH8 | NT5C3B | Q969T7 | 341 |
| GPATCH8 | GARRE1 | O15063 | 326 |
| GPATCH8 | ZNF778 | Q96MU6 | 324 |
| GPATCH8 | CCDC43 | Q96MW1 | 322 |
| GPATCH8 | ADPRHL1 | Q8NDY3 | 321 |
| GPATCH8 | SCNM1 | Q9BWG6 | 320 |
| GPATCH8 | TMEM101 | Q96IK0 | 317 |
| GPATCH8 | BLTP1 | Q2LD37 | 315 |
IntAct
107 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SNRPF | GEMIN2 | psi-mi:“MI:0914”(association) | 0.910 |
| SNRPE | GEMIN2 | psi-mi:“MI:0914”(association) | 0.770 |
| CAMKV | AP3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| SNRPA1 | U2SURP | psi-mi:“MI:0914”(association) | 0.640 |
| SNRPB | SART1 | psi-mi:“MI:0914”(association) | 0.640 |
| PIP4K2A | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| EPB41L2 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| SNIP1 | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| LACC1 | DUSP14 | psi-mi:“MI:0914”(association) | 0.530 |
| JPH4 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.530 |
| EPB41L1 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| EPB41L3 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| LUC7L2 | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| SRPK2 | RRP9 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRPC | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.530 |
| U2AF2 | U2SURP | psi-mi:“MI:0914”(association) | 0.480 |
| H1-5 | GPATCH8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GPATCH8 | H2BC9 | psi-mi:“MI:0915”(physical association) | 0.400 |
| H2AX | GPATCH8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GPATCH8 | HIST2H2BF | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (147): GPATCH8 (Affinity Capture-MS), GPATCH8 (Affinity Capture-MS), GPATCH8 (Affinity Capture-MS), GPATCH8 (Affinity Capture-MS), GPATCH8 (Affinity Capture-MS), GPATCH8 (Affinity Capture-MS), GPATCH8 (Affinity Capture-MS), GPATCH8 (Affinity Capture-MS), GPATCH8 (Affinity Capture-MS), GPATCH8 (Affinity Capture-MS), GPATCH8 (Two-hybrid), GPATCH8 (Proximity Label-MS), ABCA2 (Affinity Capture-MS), FDX1 (Affinity Capture-MS), PON2 (Affinity Capture-MS)
ESM2 similar proteins: A2A6A1, B0BN49, B0QZF7, D2H526, E1BB50, E9PYH6, E9Q4F7, E9Q6J5, F1Q8W0, O15047, O88453, P30414, P30415, Q01538, Q14AX6, Q17QQ9, Q27450, Q3KPW4, Q3UMU9, Q4V8I5, Q505I5, Q5BKY9, Q5SW79, Q5VZP5, Q62417, Q66648, Q66PJ3, Q6A065, Q6P9P0, Q6UB99, Q7TQC7, Q7Z4V5, Q80U49, Q86VM9, Q8BYK8, Q8C5W0, Q8CFC2, Q8NEY8, Q8R0F5, Q8R2M2
Diamond homologs: A2A6A1, A2AKY4, B2GV05, P52756, Q1RMU5, Q6DF57, Q6DGZ0, Q7Z570, Q91YE7, Q94C11, Q9UKJ3, A4D1E1, A0JMV4, A4IGK4, P70501, P87143, P98175, Q0IIX9, Q4PC17, Q66J74, Q6C233, Q6DDU9, Q7TN31, Q7TQC7, Q8CH09, Q8N302, Q99KG3, Q9NW75, A6ZRL6, A8XYX2, A8XYX3, C6Y4A5, P53866, Q17784, Q2KI19, Q3UFS4, Q875B6, Q8IX01, Q8N954, Q9NAA5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 106 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 |
|---|---|---|---|
| Transport of Mature Transcript to Cytoplasm | 7 | 37.0× | 2e-08 |
| RNA Polymerase II Transcription Termination | 10 | 30.5× | 3e-11 |
| mRNA Splicing | 18 | 27.4× | 2e-19 |
| mRNA 3’-end processing | 8 | 21.9× | 9e-08 |
| mRNA Splicing - Minor Pathway | 7 | 21.8× | 8e-07 |
| Processing of Capped Intron-Containing Pre-mRNA | 19 | 21.7× | 9e-19 |
| mRNA Polyadenylation | 16 | 19.5× | 5e-15 |
| mRNA Splicing - Major Pathway | 24 | 18.2× | 7e-22 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of mRNA splicing, via spliceosome | 6 | 47.9× | 2e-07 |
| spliceosomal snRNP assembly | 7 | 42.4× | 4e-08 |
| U2-type prespliceosome assembly | 6 | 39.0× | 8e-07 |
| RNA splicing, via transesterification reactions | 5 | 32.5× | 3e-05 |
| spliceosomal complex assembly | 5 | 31.4× | 3e-05 |
| regulation of alternative mRNA splicing, via spliceosome | 7 | 17.8× | 1e-05 |
| RNA processing | 7 | 16.0× | 2e-05 |
| RNA splicing | 16 | 14.7× | 7e-12 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
202 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 186 |
| Likely benign | 7 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2490 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:44401452:CA:C | acceptor_gain | 1.0000 |
| 17:44401454:C:CC | acceptor_gain | 1.0000 |
| 17:44401466:T:C | acceptor_gain | 1.0000 |
| 17:44401466:T:TC | acceptor_gain | 1.0000 |
| 17:44405915:CCTCA:C | donor_loss | 1.0000 |
| 17:44405916:CTCA:C | donor_loss | 1.0000 |
| 17:44405919:A:AC | donor_gain | 1.0000 |
| 17:44405919:A:AT | donor_loss | 1.0000 |
| 17:44405919:AC:A | donor_gain | 1.0000 |
| 17:44405920:C:CC | donor_gain | 1.0000 |
| 17:44405920:C:CT | donor_loss | 1.0000 |
| 17:44405920:CC:C | donor_gain | 1.0000 |
| 17:44405920:CCATT:C | donor_gain | 1.0000 |
| 17:44406047:AATCT:A | acceptor_gain | 1.0000 |
| 17:44406048:ATCT:A | acceptor_gain | 1.0000 |
| 17:44406050:CT:C | acceptor_gain | 1.0000 |
| 17:44406052:C:CC | acceptor_gain | 1.0000 |
| 17:44406056:G:GC | acceptor_gain | 1.0000 |
| 17:44406057:T:C | acceptor_gain | 1.0000 |
| 17:44406057:T:TC | acceptor_gain | 1.0000 |
| 17:44424344:CTCA:C | donor_loss | 1.0000 |
| 17:44424345:TCA:T | donor_loss | 1.0000 |
| 17:44424346:CA:C | donor_loss | 1.0000 |
| 17:44424347:A:C | donor_loss | 1.0000 |
| 17:44424348:C:CA | donor_loss | 1.0000 |
| 17:44424348:CCTG:C | donor_gain | 1.0000 |
| 17:44424488:TAATC:T | acceptor_gain | 1.0000 |
| 17:44424501:CCCA:C | acceptor_gain | 1.0000 |
| 17:44424503:C:CT | acceptor_gain | 1.0000 |
| 17:44424504:A:AC | acceptor_gain | 1.0000 |
AlphaMissense
9855 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:44398097:G:T | A1327D | 1.000 |
| 17:44398098:C:G | A1327P | 1.000 |
| 17:44398101:C:G | A1326P | 1.000 |
| 17:44398109:A:G | L1323P | 1.000 |
| 17:44398109:A:T | L1323H | 1.000 |
| 17:44398118:T:C | Y1320C | 1.000 |
| 17:44398119:A:G | Y1320H | 1.000 |
| 17:44398141:G:C | F1312L | 1.000 |
| 17:44398141:G:T | F1312L | 1.000 |
| 17:44398142:A:C | F1312C | 1.000 |
| 17:44398142:A:G | F1312S | 1.000 |
| 17:44398143:A:G | F1312L | 1.000 |
| 17:44400424:C:A | W551C | 1.000 |
| 17:44400424:C:G | W551C | 1.000 |
| 17:44400426:A:G | W551R | 1.000 |
| 17:44400426:A:T | W551R | 1.000 |
| 17:44400458:A:T | V540D | 1.000 |
| 17:44405957:A:G | L196P | 1.000 |
| 17:44406011:A:T | V178D | 1.000 |
| 17:44406013:A:C | N177K | 1.000 |
| 17:44406013:A:T | N177K | 1.000 |
| 17:44406017:C:G | R176P | 1.000 |
| 17:44406022:A:C | F174L | 1.000 |
| 17:44406022:A:T | F174L | 1.000 |
| 17:44406023:A:C | F174C | 1.000 |
| 17:44406023:A:G | F174S | 1.000 |
| 17:44406024:A:G | F174L | 1.000 |
| 17:44406027:C:T | E173K | 1.000 |
| 17:44406028:T:A | R172S | 1.000 |
| 17:44406028:T:G | R172S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000007733 (17:44482108 G>A,C), RS1000046764 (17:44456492 A>G), RS1000055704 (17:44499226 G>A,C), RS1000069128 (17:44493505 T>C), RS1000070753 (17:44493721 C>T), RS1000107192 (17:44412652 G>A), RS1000132007 (17:44441726 C>A,T), RS1000159290 (17:44471629 G>A), RS1000160476 (17:44420169 C>G,T), RS1000211150 (17:44476379 T>C), RS1000214675 (17:44419872 A>C), RS1000240885 (17:44469543 T>C), RS1000276168 (17:44450104 G>C), RS1000306524 (17:44469298 C>T), RS1000353803 (17:44422316 C>T)
Disease associations
OMIM: gene MIM:614396 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007269_163 | Pulse pressure | 6.000000e-13 |
| GCST010703_292 | Brain morphology (MOSTest) | 1.000000e-14 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005763 | pulse pressure measurement |
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4523489 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (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 |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.00 | IC50 | 10 | nM | MOLIBRESIB |
| 7.92 | Kd | 12 | nM | MOLIBRESIB |
PubChem BioAssay actives
2 with measured affinity, of 8 total; 1 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 |
|---|---|---|---|---|
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2178759: Inhibition of GPATCH8 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | ic50 | 0.0100 | uM |
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| ferrous chloride | decreases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | increases expression | 1 |
| bisphenol S | affects cotreatment, increases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Hydrogen Peroxide | affects cotreatment, increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Dronabinol | increases expression | 1 |
| Theophylline | affects cotreatment, increases expression | 1 |
| Thiram | increases expression | 1 |
| Vitamin E | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | increases expression, affects cotreatment | 1 |
| Palmitic Acid | decreases phosphorylation | 1 |
| Lactic Acid | decreases expression | 1 |
ChEMBL screening assays
8 unique, capped per target: 8 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4341442 | Binding | Binding affinity to GPATCH8 in human A549 cells lysates grown on SILAC media at 10 uM incubated for 1 hr by LC-MS/MS analysis relative to untreated control | Profiling withanolide A for therapeutic targets in neurodegenerative diseases. — Bioorg Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.