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3 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PRR5-ARHGAP8
PRR5-ARHGAP8 readthrough
Chromosome 22 · 22q13.31
NCBI Gene: 553158Ensembl: ENSG00000248405.10HGNC: HGNC:34512UniProt: B1AHC3
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
early-onset non-syndromic cataractTotal congenital cataractCataract-microcornea syndromePartial congenital cataract
✦AI Summary

PRR5-ARHGAP8 is a readthrough transcript encoding a fusion protein combining PRR5 and ARHGAP8 1. PRR5 functions as a subunit of mTORC2, a serine/threonine kinase involved in food intake regulation, while ARHGAP8 belongs to the RhoGAP family, mediating cross-talk between Rho GTPases and other signaling pathways 1. Genetically, PRR5-ARHGAP8 variants show significant association with binge eating behavior in bipolar disorder patients, with SNP rs726170 demonstrating genome-wide significance (OR = 1.91, P = 3.05E-08) in meta-analysis 1. At the expression level, PRR5-ARHGAP8 is upregulated in colon and stomach cancer specimens compared to non-tumorous tissue, suggesting acid-microenvironment responsiveness in cancer 2. Clinically, PRR5-ARHGAP8 emerges as a potential prognostic biomarker for colorectal cancer progression and survival 3. It was identified as a signature gene in both multivariate analyses and combined gene expression-clinical information analyses for colorectal cancer outcomes 3. These findings suggest PRR5-ARHGAP8 may represent a therapeutic target, though further investigation is warranted to clarify its mechanistic role across psychiatric and oncologic phenotypes.

Sources cited
1
PRR5-ARHGAP8 is a readthrough fusion protein; PRR5 is an mTORC2 subunit involved in food intake regulation; ARHGAP8 is a RhoGAP family member mediating Rho GTPase signaling; SNP rs726170 in PRR5-ARHGAP8 associates with binge eating in bipolar disorder (OR=1.91, P=3.05E-08)
PMID: 29391396
2
PRR5-ARHGAP8 (LOC553158) expression is upregulated in colon and stomach cancer specimens compared to non-tumorous regions
PMID: 25279216
3
PRR5-ARHGAP8 identified as a signature gene in multivariate analyses and combined gene expression-clinical analyses for colorectal cancer progression and survival; represents a potential therapeutic target
PMID: 34153790
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
early-onset non-syndromic cataractOpen Targets
0.08Suggestive
Total congenital cataractOpen Targets
0.07Suggestive
Cataract-microcornea syndromeOpen Targets
0.07Suggestive
Partial congenital cataractOpen Targets
0.07Suggestive
attention deficit hyperactivity disorderOpen Targets
0.06Suggestive
early-onset nuclear cataractOpen Targets
0.06Suggestive
Cataract with Y-shaped suture opacitiesOpen Targets
0.06Suggestive
Posterior polar cataractOpen Targets
0.06Suggestive
early-onset zonular cataractOpen Targets
0.06Suggestive
pulverulent cataractOpen Targets
0.06Suggestive
isolated ectopia lentisOpen Targets
0.06Suggestive
Anterior polar cataractOpen Targets
0.05Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.05Suggestive
cataract 35Open Targets
0.05Suggestive
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.05Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.05Suggestive
cataract 13 with adult I phenotypeOpen Targets
0.05Suggestive
cataract 38Open Targets
0.05Suggestive
cataractOpen Targets
0.05Suggestive
Cochleosaccular degeneration - cataractOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ARHGAP8Protein interaction83%
Tissue Expression6 tissues
Lung
100%
Liver
67%
Brain
50%
Bone Marrow
33%
Heart
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
PRR5-ARHGAP8ARHGAP8
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt B1AHC3
View on AlphaFold ↗
RankingsWhere PRR5-ARHGAP8 stands among ~20K protein-coding genes
  • #15,667of 20,598
    Most Researched15
Genes detectedPRR5-ARHGAP8
Sources retrieved3 papers
Response time—
📄 Sources
3
1
Bipolar disorder with binge eating behavior: a genome-wide association study implicates PRR5-ARHGAP8.
PMID: 29391396
Transl Psychiatry · 2018
1.00
2
Expression of acidosis-dependent genes in human cancer nests.
PMID: 25279216
Mol Clin Oncol · 2014
0.67
3
Machine learning and network-based models to identify genetic risk factors to the progression and survival of colorectal cancer.
PMID: 34153790
Comput Biol Med · 2021
0.33