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5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GPKOW
G-patch domain and KOW motifs
Chromosome X · Xp11.23
NCBI Gene: 27238Ensembl: ENSG00000068394.12HGNC: HGNC:30677UniProt: Q92917
75PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
spliceosomal complexRNA bindingprotein bindingmRNA splicing, via spliceosomeneurodegenerative diseaseholoprosencephaly-hypokinesia-congenital contractures syndromedengue diseasesystemic juvenile idiopathic arthritis
✦AI Summary

GPKOW is an X-linked nuclear RNA-binding protein essential for pre-mRNA splicing as a core spliceosomal component 1. The protein contains G-patch and KOW domains that facilitate interactions with the DEAH-box helicase DHX16/hPRP2 and direct RNA binding 2. GPKOW is critical for spliceosomal assembly and function; its immunodepletion from nuclear extracts abolishes splicing activity, which is restored by recombinant GPKOW addition 2. The protein cooperates with DHX16 through ordered spliceosomal protein interactions, particularly during early splicing catalysis 3. Loss-of-function GPKOW variants cause a severe multisystemic X-linked disorder characterized by intrauterine growth restriction, microcephaly, and abnormalities affecting the eyes, brain, skin, and skeleton 4. C-terminal frameshift variants produce truncated proteins with reduced stability and partial loss-of-function activity that exhibits dosage sensitivity 4. Splice site variants similarly reduce wild-type GPKOW mRNA and protein levels, creating a male-lethal perinatal phenotype 1. Additionally, GPKOW functions as an influenza A virus host factor, showing significant protein turnover changes during viral infection 5. These findings establish GPKOW as essential for normal fetal development and spliceosomal function.

Sources cited
1
C-terminal frameshift variants in GPKOW cause multisystemic X-linked disorder with intrauterine growth restriction, microcephaly, and eye/brain/skin/skeletal abnormalities; protein exhibits dosage sensitivity
PMID: 40221893
2
Splice site variant in GPKOW disrupts pre-mRNA splicing, reduces full-length protein levels by 70%, and causes male-lethal microcephaly with intrauterine growth restriction
PMID: 28612833
3
GPKOW is essential for pre-mRNA splicing in vitro, interacts directly with DHX16/hPRP2 helicase and RNA, and depletion abolishes spliceosomal activity
PMID: 25296192
4
GPKOW cooperates with DEAH-box helicases hPRP2 and hPRP16 through ordered spliceosomal protein interactions during splicing catalysis
PMID: 22365833
5
GPKOW is identified as an influenza A virus host factor exhibiting significant protein turnover rate changes during viral infection
PMID: 39368468
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.54Moderate
holoprosencephaly-hypokinesia-congenital contractures syndromeOpen Targets
0.40Weak
dengue diseaseOpen Targets
0.37Weak
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
cervical cancerOpen Targets
0.01Suggestive
pachyonychia congenitaOpen Targets
0.00Suggestive
microcephalyOpen Targets
0.00Suggestive
systemic lupus erythematosusOpen Targets
0.00Suggestive
non-small cell lung carcinomaOpen Targets
0.00Suggestive
fetal growth restrictionOpen Targets
0.00Suggestive
AutoimmunityOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
Familial prostate cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HNRNPA1L3Shared pathway100%RBMXL1Shared pathway100%RBMY1EShared pathway100%RBMY1DShared pathway100%RBM44Shared pathway100%HNRNPA3Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Heart
84%
Lung
74%
Liver
64%
Ovary
62%
Bone Marrow
57%
Gene Interaction Network
Click a node to explore
GPKOWHNRNPA1L3RBMXL1RBMY1ERBMY1DRBM44HNRNPA3
PROTEIN STRUCTURE
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PDB7DVQ · 2.89 Å · EM
View on RCSB ↗
RankingsWhere GPKOW stands among ~20K protein-coding genes
  • #6,329of 20,598
    Most Researched75
Genes detectedGPKOW
Sources retrieved5 papers
Response time—
📄 Sources
5
1
C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder.
PMID: 40221893
Genet Med · 2025
1.00
2
Protein turnover regulation is critical for influenza A virus infection.
PMID: 39368468
Cell Syst · 2024
0.80
3
Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction.
PMID: 28612833
Eur J Hum Genet · 2017
0.60
4
Dynamic protein-protein interaction wiring of the human spliceosome.
PMID: 22365833
Mol Cell · 2012
0.40
5
GPKOW is essential for pre-mRNA splicing in vitro and suppresses splicing defect caused by dominant-negative DHX16 mutation in vivo.
PMID: 25296192
Biosci Rep · 2014
0.20