GPKOW
gene geneOn this page
Also known as T54GPATC5GPATCH5Spp2Mos2
Summary
GPKOW (G-patch domain and KOW motifs, HGNC:30677) is a protein-coding gene on chromosome Xp11.23, encoding G-patch domain and KOW motifs-containing protein (Q92917). RNA-binding protein involved in pre-mRNA splicing. It is a common-essential gene (DepMap: required in 97.7% of cancer cell lines).
This gene encodes a putative RNA-binding protein containing G-patch and KOW (Kyprides, Ouzounis, Woese) domains. The encoded protein interacts directly with protein kinase A and protein kinase X and is also found associated with the spliceosome.
Source: NCBI Gene 27238 — RefSeq curated summary.
At a glance
- Gene–disease (curated): syndromic disease (Strong, GenCC) — +1 more curated relationship
- Clinical variants (ClinVar): 136 total
- Phenotypes (HPO): 24
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 97.7% of screened cell lines (common-essential)
- MANE Select transcript:
NM_015698
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30677 |
| Approved symbol | GPKOW |
| Name | G-patch domain and KOW motifs |
| Location | Xp11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | T54, GPATC5, GPATCH5, Spp2, Mos2 |
| Ensembl gene | ENSG00000068394 |
| Ensembl biotype | protein_coding |
| OMIM | 301003 |
| Entrez | 27238 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 6 protein_coding
ENST00000156109, ENST00000916257, ENST00000916258, ENST00000916259, ENST00000961387, ENST00000961388
RefSeq mRNA: 1 — MANE Select: NM_015698
NM_015698
CCDS: CCDS35251
Canonical transcript exons
ENST00000156109 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000670287 | 49122398 | 49122522 |
| ENSE00000670295 | 49117597 | 49117810 |
| ENSE00001094859 | 49122622 | 49122776 |
| ENSE00001150601 | 49123547 | 49123735 |
| ENSE00001305620 | 49116221 | 49116323 |
| ENSE00001317932 | 49119705 | 49119814 |
| ENSE00001325789 | 49117030 | 49117162 |
| ENSE00001601302 | 49115726 | 49115795 |
| ENSE00001701291 | 49115891 | 49116014 |
| ENSE00001731716 | 49113853 | 49113938 |
| ENSE00001756911 | 49113407 | 49113755 |
Expression profiles
Bgee: expression breadth ubiquitous, 281 present calls, max score 91.19.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.6981 / max 89.2489, expressed in 1799 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 199238 | 10.3581 | 1794 |
| 199239 | 0.9102 | 610 |
| 199237 | 0.4298 | 163 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| paraflocculus | UBERON:0005351 | 91.19 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.32 | gold quality |
| muscle of leg | UBERON:0001383 | 90.09 | gold quality |
| frontal pole | UBERON:0002795 | 89.71 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 88.91 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 88.57 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 88.57 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 88.31 | gold quality |
| granulocyte | CL:0000094 | 88.24 | gold quality |
| muscle organ | UBERON:0001630 | 88.13 | gold quality |
| popliteal artery | UBERON:0002250 | 87.99 | gold quality |
| tibial artery | UBERON:0007610 | 87.98 | gold quality |
| triceps brachii | UBERON:0001509 | 87.89 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 87.71 | gold quality |
| spinal cord | UBERON:0002240 | 87.67 | gold quality |
| right frontal lobe | UBERON:0002810 | 87.63 | gold quality |
| aorta | UBERON:0000947 | 87.42 | gold quality |
| cingulate cortex | UBERON:0003027 | 87.27 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 87.23 | gold quality |
| medial globus pallidus | UBERON:0002477 | 87.18 | gold quality |
| gluteal muscle | UBERON:0002000 | 87.13 | gold quality |
| substantia nigra | UBERON:0002038 | 86.84 | gold quality |
| thoracic aorta | UBERON:0001515 | 86.78 | gold quality |
| ascending aorta | UBERON:0001496 | 86.72 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 86.68 | gold quality |
| apex of heart | UBERON:0002098 | 86.57 | gold quality |
| nucleus accumbens | UBERON:0001882 | 86.54 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 86.52 | gold quality |
| lower esophagus | UBERON:0013473 | 86.50 | gold quality |
| hypothalamus | UBERON:0001898 | 86.46 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.60 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
14 targeting GPKOW, 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-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-1260A | 99.61 | 66.67 | 1098 |
| HSA-MIR-1260B | 99.61 | 66.67 | 1098 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-203A-3P | 99.49 | 70.56 | 2806 |
| HSA-MIR-6839-3P | 99.39 | 68.86 | 1301 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-6780B-3P | 99.13 | 67.18 | 622 |
| HSA-MIR-637 | 97.91 | 64.05 | 1517 |
| HSA-MIR-1224-3P | 97.24 | 65.92 | 851 |
| HSA-MIR-1288-3P | 96.86 | 66.95 | 536 |
| HSA-MIR-5579-5P | 96.32 | 68.54 | 730 |
| HSA-MIR-3130-3P | 94.98 | 66.97 | 574 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 97.7% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 2)
- Data show that G patch domain and KOW motifs protein (GPKOW )interacted directly with the DEAH-box protein 16 (DHX16/hPRP2) and with RNA. (PMID:25296192)
- GPKOW c.331+5G>A variant disrupts normal splicing of its pre-mRNAs and causes male-lethal microcephaly with intrauterine growth restriction. (PMID:28612833)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gpkow | ENSDARG00000029612 |
| mus_musculus | Gpkow | ENSMUSG00000031148 |
| rattus_norvegicus | Gpkow | ENSRNOG00000022939 |
| drosophila_melanogaster | CG10324 | FBGN0038454 |
| caenorhabditis_elegans | WBGENE00011237 |
Protein
Protein identifiers
G-patch domain and KOW motifs-containing protein — Q92917 (reviewed: Q92917)
Alternative names: G-patch domain-containing protein 5, Protein MOS2 homolog, Protein T54
All UniProt accessions (1): Q92917
UniProt curated annotations — full annotation on UniProt →
Function. RNA-binding protein involved in pre-mRNA splicing. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs.
Subunit / interactions. Component of the minor spliceosome, which splices U12-type introns. Interacts with PRKX. Interacts with DHX16. Interacts with PRKACB.
Subcellular location. Nucleus.
Post-translational modifications. Phosphorylation regulates its ability to bind RNA.
Similarity. Belongs to the MOS2 family.
RefSeq proteins (1): NP_056513* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000467 | G_patch_dom | Domain |
| IPR005824 | KOW | Domain |
| IPR014722 | Rib_uL2_dom2 | Homologous_superfamily |
| IPR026822 | Spp2/MOS2_G-patch | Domain |
| IPR041993 | GPKOW_KOW1 | Domain |
| IPR041994 | GPKOW_KOW2 | Domain |
| IPR045166 | Spp2-like | Family |
Pfam: PF00467, PF12656, PF25088
UniProt features (33 total): modified residue 9, compositionally biased region 5, mutagenesis site 4, domain 3, region of interest 3, helix 2, turn 2, initiator methionine 1, chain 1, cross-link 1, sequence conflict 1, strand 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7DVQ | ELECTRON MICROSCOPY | 2.89 |
| 7QTT | ELECTRON MICROSCOPY | 3.1 |
| 8CH6 | ELECTRON MICROSCOPY | 5.9 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q92917-F1 | 70.15 | 0.25 |
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 (10): 2, 27, 35, 42, 115, 216, 316, 471, 473, 5
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 27 | reduced phosphorylation. significant loss of phosphorylation and increased rna-binding; when associated with a-316. |
| 176–177 | significant loss of interaction with dhx16. no loss of pre-mrna splicing activity. able to suppress the splicing defect |
| 259–260 | no loss of interaction with dhx16. reduced pre-mrna splicing activity. decreased ability to suppress the splicing defect |
| 316 | reduced phosphorylation. significant loss of phosphorylation and increased rna-binding; when associated with a-27. |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-72163 | mRNA Splicing - Major Pathway |
| R-HSA-9918481 | Dengue Virus-Host Interactions |
MSigDB gene sets: 228 (showing top):
GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOCC_SECRETORY_GRANULE, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, GNF2_HPN, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, MODULE_120, WANG_LMO4_TARGETS_DN, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GNF2_LCAT, HSIAO_LIVER_SPECIFIC_GENES, GOBP_RNA_SPLICING, REACTOME_MRNA_SPLICING, GNF2_HPX, MODULE_88
GO Biological Process (3): mRNA splicing, via spliceosome (GO:0000398), mRNA processing (GO:0006397), RNA splicing (GO:0008380)
GO Molecular Function (3): RNA binding (GO:0003723), nucleic acid binding (GO:0003676), protein binding (GO:0005515)
GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| mRNA Splicing | 1 |
| Dengue Virus Infection | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| binding | 2 |
| RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 1 |
| mRNA processing | 1 |
| mRNA metabolic process | 1 |
| nucleic acid binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| nuclear protein-containing complex | 1 |
| ribonucleoprotein complex | 1 |
Protein interactions and networks
STRING
1474 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GPKOW | SCN11A | Q9UI33 | 925 |
| GPKOW | MX2 | P20592 | 922 |
| GPKOW | NDUFAF3 | Q9BU61 | 909 |
| GPKOW | HAO1 | Q9UJM8 | 798 |
| GPKOW | BHLHE40 | O14503 | 772 |
| GPKOW | VASP | P50552 | 772 |
| GPKOW | CARD16 | Q5EG05 | 728 |
| GPKOW | ZNF174 | Q15697 | 727 |
| GPKOW | SERF1A | O75920 | 724 |
| GPKOW | DHX16 | O60231 | 709 |
| GPKOW | ALB | P02768 | 689 |
| GPKOW | C1S | P09871 | 622 |
| GPKOW | DHX38 | Q92620 | 621 |
| GPKOW | SFMBT1 | Q9UHJ3 | 560 |
| GPKOW | PLAUR | Q03405 | 507 |
IntAct
235 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BUD13 | GPKOW | psi-mi:“MI:0915”(physical association) | 0.940 |
| GPKOW | BUD13 | psi-mi:“MI:0915”(physical association) | 0.940 |
| HEXIM1 | CCNT1 | psi-mi:“MI:0914”(association) | 0.930 |
| MED17 | MED19 | psi-mi:“MI:0914”(association) | 0.840 |
| GPKOW | DHX16 | psi-mi:“MI:0914”(association) | 0.820 |
| GPKOW | TCEA2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| GOLGA2 | GPKOW | psi-mi:“MI:0915”(physical association) | 0.780 |
| GPKOW | TRAF2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| TRAF2 | GPKOW | psi-mi:“MI:0915”(physical association) | 0.780 |
| TCEA2 | GPKOW | psi-mi:“MI:0915”(physical association) | 0.780 |
| ROPN1 | GPKOW | psi-mi:“MI:0915”(physical association) | 0.720 |
| GPKOW | ROPN1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TRIM23 | GPKOW | psi-mi:“MI:0915”(physical association) | 0.670 |
| GPKOW | TRIM23 | psi-mi:“MI:0915”(physical association) | 0.670 |
BioGRID (170): GPKOW (Two-hybrid), GPKOW (Two-hybrid), GPKOW (Two-hybrid), GPKOW (Two-hybrid), GPKOW (Two-hybrid), ROPN1 (Two-hybrid), BUD13 (Two-hybrid), CCDC57 (Two-hybrid), DHX16 (Affinity Capture-Western), DHX16 (Reconstituted Complex), GPKOW (Affinity Capture-Western), GPKOW (Affinity Capture-MS), GPKOW (Two-hybrid), TLN1 (Co-fractionation), GPKOW (Affinity Capture-MS)
ESM2 similar proteins: A1XD93, A1XD95, A1XD97, A4UMC5, A7SBN6, B3DJT0, B3MPC0, B3N8L3, B4G7U3, B4HWD7, B4JCG4, B4KH32, B4M9F7, B4NYQ2, B4Q8A7, C0HAV3, E7EXT2, F7AEX0, O75940, Q06AK6, Q17CQ8, Q28H71, Q29NF3, Q29RR5, Q4QQU6, Q56A08, Q5PPF5, Q5RET3, Q5U2X2, Q5U2Y6, Q5U4Z3, Q5ZMQ9, Q66HA5, Q6DEY1, Q6DI35, Q6K687, Q6NU07, Q7PYU6, Q7SXW2, Q8BGT7
Diamond homologs: Q21924, Q4P9X4, Q4WP02, Q56A08, Q5B4R9, Q6BJ73, Q6NU07, Q753C4, Q90X38, Q92917, Q9C801, O43031, Q02521, Q52E73, Q6FMB1, Q6CUA3, A0JMV4, A4IGK4, B2GV05, P52756, P70501, P98175, Q1RMU5, Q55D16, Q6DDU9, Q91YE7, Q99KG3, Q9NW75, Q9ZVU5, Q7TQC7
SIGNOR signaling
8 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| GPKOW | “up-regulates quantity” | DHX16 | binding |
| PRKACB | “up-regulates activity” | GPKOW | phosphorylation |
| PRKACA | “up-regulates activity” | GPKOW | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
136 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 58 |
| Likely benign | 8 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1733 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:49113751:CCCAC:C | acceptor_gain | 1.0000 |
| X:49113752:CCAC:C | acceptor_gain | 1.0000 |
| X:49113752:CCACC:C | acceptor_gain | 1.0000 |
| X:49113753:CAC:C | acceptor_gain | 1.0000 |
| X:49113753:CACC:C | acceptor_gain | 1.0000 |
| X:49113756:C:CC | acceptor_gain | 1.0000 |
| X:49113762:C:CT | acceptor_gain | 1.0000 |
| X:49113763:A:T | acceptor_gain | 1.0000 |
| X:49113847:ACT:A | donor_loss | 1.0000 |
| X:49113848:CTC:C | donor_loss | 1.0000 |
| X:49113849:TCAC:T | donor_loss | 1.0000 |
| X:49113850:CACC:C | donor_loss | 1.0000 |
| X:49113851:A:AC | donor_gain | 1.0000 |
| X:49113851:AC:A | donor_gain | 1.0000 |
| X:49113851:ACCCT:A | donor_loss | 1.0000 |
| X:49113852:C:CC | donor_gain | 1.0000 |
| X:49113852:CC:C | donor_gain | 1.0000 |
| X:49113852:CCCTT:C | donor_gain | 1.0000 |
| X:49113934:CAGGC:C | acceptor_gain | 1.0000 |
| X:49113937:GCCTA:G | acceptor_loss | 1.0000 |
| X:49113938:CCTA:C | acceptor_loss | 1.0000 |
| X:49113939:C:CC | acceptor_gain | 1.0000 |
| X:49113939:CT:C | acceptor_loss | 1.0000 |
| X:49113940:T:G | acceptor_loss | 1.0000 |
| X:49115792:TCAT:T | acceptor_gain | 1.0000 |
| X:49115793:CATC:C | acceptor_gain | 1.0000 |
| X:49115795:TCTG:T | acceptor_loss | 1.0000 |
| X:49115796:C:T | acceptor_loss | 1.0000 |
| X:49115797:T:C | acceptor_loss | 1.0000 |
| X:49115885:TCCCA:T | donor_loss | 1.0000 |
AlphaMissense
3071 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:49119742:A:G | W177R | 0.986 |
| X:49119742:A:T | W177R | 0.986 |
| X:49113657:G:C | C465W | 0.981 |
| X:49115756:A:G | C394R | 0.978 |
| X:49119768:C:T | G168E | 0.977 |
| X:49119740:C:A | W177C | 0.976 |
| X:49119740:C:G | W177C | 0.976 |
| X:49119756:A:G | L172P | 0.976 |
| X:49113658:C:T | C465Y | 0.975 |
| X:49115962:A:G | W357R | 0.975 |
| X:49115962:A:T | W357R | 0.975 |
| X:49119762:G:T | A170D | 0.974 |
| X:49115960:C:A | W357C | 0.973 |
| X:49115960:C:G | W357C | 0.973 |
| X:49119741:C:G | W177S | 0.973 |
| X:49119772:A:C | Y167D | 0.971 |
| X:49115754:A:C | C394W | 0.969 |
| X:49122741:A:G | I71T | 0.969 |
| X:49119753:C:G | R173P | 0.968 |
| X:49119769:C:A | G168W | 0.968 |
| X:49113659:A:G | C465R | 0.967 |
| X:49119756:A:T | L172Q | 0.966 |
| X:49115788:A:T | I383N | 0.965 |
| X:49119763:C:G | A170P | 0.965 |
| X:49115937:C:G | R365P | 0.963 |
| X:49119746:C:A | M175I | 0.963 |
| X:49119746:C:G | M175I | 0.963 |
| X:49119746:C:T | M175I | 0.963 |
| X:49113908:A:T | V414D | 0.961 |
| X:49117125:A:T | V273D | 0.961 |
dbSNP variants (sampled 300 via entrez): RS1000175311 (X:49124527 C>T), RS1000227699 (X:49125024 C>G), RS1001347209 (X:49117943 G>A), RS1001796924 (X:49118441 T>C,G), RS1002293475 (X:49119600 T>A,C), RS1003349929 (X:49121864 G>A), RS1003708523 (X:49121623 A>C,G), RS1004420134 (X:49114073 G>A,T), RS1005881654 (X:49116541 C>G,T), RS1006267559 (X:49119415 T>A,C), RS1006471418 (X:49118935 A>G), RS1007919100 (X:49112992 G>T), RS1007971636 (X:49113430 C>G), RS1008282724 (X:49123527 T>C), RS1008484154 (X:49122885 A>G)
Disease associations
OMIM: gene MIM:301003 | disease phenotypes: MIM:306990
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| syndromic disease | Strong | X-linked |
| holoprosencephaly-hypokinesia-congenital contractures syndrome | Moderate | X-linked |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| holoprosencephaly-hypokinesia-congenital contractures syndrome | Moderate | XL |
Mondo (2): holoprosencephaly-hypokinesia-congenital contractures syndrome (MONDO:0010610), syndromic disease (MONDO:0002254)
Orphanet (1): Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome (Orphanet:2570)
HPO phenotypes
24 total (24 of 24 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000252 | Microcephaly |
| HP:0000340 | Sloping forehead |
| HP:0000347 | Micrognathia |
| HP:0000369 | Low-set ears |
| HP:0000470 | Short neck |
| HP:0000490 | Deeply set eye |
| HP:0000581 | Blepharophimosis |
| HP:0001181 | Adducted thumb |
| HP:0001360 | Holoprosencephaly |
| HP:0001376 | Limitation of joint mobility |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001558 | Decreased fetal movement |
| HP:0002103 | Abnormal pleura morphology |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002324 | Hydranencephaly |
| HP:0002828 | Multiple joint contractures |
| HP:0006703 | Aplasia/Hypoplasia of the lungs |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum |
| HP:0007477 | Abnormal dermatoglyphics |
| HP:0008678 | Renal hypoplasia/aplasia |
| HP:0010662 | Abnormal diencephalon morphology |
| HP:0100490 | Camptodactyly of finger |
| HP:0100625 | Enlarged thorax |
GWAS associations
0 associations (top):
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D013577 | Syndrome | C23.550.288.500 |
| C564409 | Holoprosencephaly with Fetal Akinesia-Hypokinesia Sequence (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067442 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases abundance, increases expression, decreases expression | 2 |
| Arsenic | decreases expression, increases abundance, affects methylation | 2 |
| Benzo(a)pyrene | increases methylation, affects methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| deoxynivalenol | increases expression | 1 |
| terbufos | decreases methylation | 1 |
| cobaltous chloride | decreases expression | 1 |
| manganese chloride | increases abundance, decreases expression | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| abrine | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic Trioxide | affects binding, decreases reaction | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Atrazine | decreases expression | 1 |
| Azacitidine | increases expression | 1 |
| Benztropine | decreases expression, affects cotreatment | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cuprizone | affects cotreatment, decreases expression | 1 |
| Bucladesine | affects cotreatment, increases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Fonofos | decreases methylation | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Estradiol | increases expression, affects cotreatment | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lead | decreases expression | 1 |
| Manganese | decreases expression, increases abundance | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651497 | Binding | Binding affinity to human GPKOW incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
1 cell lines: 1 induced pluripotent stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_YZ89 | KICRi002-A-2 | Induced pluripotent stem cell | Male |
Clinical trials (associated diseases)
25 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00027456 | PHASE2 | COMPLETED | Leptin to Treat Severe Insulin Resistance - Pilot Study |
| NCT00213447 | Not specified | COMPLETED | T Cell Response in Hypersensitivity Syndrome |
| NCT02240888 | Not specified | COMPLETED | Vaccination in Inflammatory Rheumatic Disease (VACCIMIL). The Impact of Antirheumatic Treatment on Antibody Response |
| NCT02526082 | Not specified | ACTIVE_NOT_RECRUITING | Long-term Follow-up of the Helsinki Businessmen Study |
| NCT02637518 | Not specified | UNKNOWN | Comprehensive Validation of Frailty Assessment Tools in Older Adults in Different Clinical and Social Settings |
| NCT02971072 | Not specified | COMPLETED | Neurophysiology of Weakness and Exercise in Rotator Cuff Tendinopathy |
| NCT02974569 | Not specified | COMPLETED | Improving Symptom Self-management in Adolescents & Young Adults With Cancer |
| NCT03265561 | Not specified | COMPLETED | Spinal Infection Management With Structural Allograft |
| NCT04190342 | Not specified | COMPLETED | Effects of a Traditional Chinese Exercise Program on Symptom Cluster in Breast Cancer Patients |
| NCT04874584 | Not specified | COMPLETED | Culturally Tailored Nurse Coaching Study for Cancer Symptom Management |
| NCT04909489 | Not specified | UNKNOWN | PDR and SKYD of Dyslipidemia’s Characteristics From the Oxidative Stress Enhancement Caused by Inhibition of Serine Metabolic Pathway |
| NCT05218122 | Not specified | UNKNOWN | Characteristics of LKDS and PBSS of KOA Based on the Enhancement of Inflammatory Response by TGF-β/Smad Pathway Inhibited |
| NCT05266118 | Not specified | COMPLETED | Patient Reported Symptoms the First Week After Intensive Care Unit Discharge and up to Hospital Discharge |
| NCT05321966 | Not specified | COMPLETED | The Effect of Video Training on Symptom Burden Patients Undergoing Hemodialysis Treatment |
| NCT05818748 | Not specified | UNKNOWN | Effect Of Virtual Reality Distraction on Symptom Control and Anxiety in Children With Leukemia |
| NCT05837988 | Not specified | UNKNOWN | Construction of Symptom Network in Maintenance Hemodialysis Patients |
| NCT06143436 | Not specified | UNKNOWN | TCM Constitution, Pattern Types, and Disease Factors in Primary Lung Cancer. |
| NCT06222008 | Not specified | UNKNOWN | Study on Symptom Clusters During Chemotherapy in Ovarian Cancer Patients With Different Chinese Medicine Constitution |
| NCT06412107 | Not specified | COMPLETED | Somatic Acupressure for Symptom Cluster Management in Breast Cancer Survivors |
| NCT06847360 | Not specified | RECRUITING | Home-based Transcutaneous Auricular Vagus Nerve Stimulation (taVNS) for IBS Pain |
| NCT07281300 | Not specified | RECRUITING | Mindfulness-Oriented Respiratory Distress Symptom Intervention for Lung Cancer |
| NCT07315672 | Not specified | RECRUITING | Acupressure for Cough in Lung Cancer Survivors |
| NCT07479654 | Not specified | NOT_YET_RECRUITING | AI-Enabled Frailty Risk Prediction in Adult Congenital Heart Disease |
| NCT07495358 | Not specified | NOT_YET_RECRUITING | Development and Usability Evaluation of a Knowledge Graph-Based Symptom Management System for Patients With Breast Cancer Undergoing Chemotherapy |
| NCT07576114 | Not specified | RECRUITING | Comparison of Gluteal Muscle Activation and Core Strengthening in Dead Butt Syndrome Syndrome |
Related Atlas pages
- Associated diseases: holoprosencephaly-hypokinesia-congenital contractures syndrome, syndromic disease
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): holoprosencephaly-hypokinesia-congenital contractures syndrome, syndromic disease