HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
JRK
Jrk helix-turn-helix protein
Chromosome 8 · 8q24.3
NCBI Gene: 8629Ensembl: ENSG00000234616.10HGNC: HGNC:6199UniProt: O75564
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of canonical Wnt signaling pathwayprotein bindingnucleusDNA bindinggastric ulcerduodenal ulcergastric carcinomaurinary bladder cancer
✦AI Summary

Based on the provided abstracts, there is insufficient information to determine the primary function and mechanism of the JRK (Jrk helix-turn-helix protein) gene. The only relevant study found that JRK/JH8 was initially considered a candidate gene for childhood absence epilepsy (CAE) due to its homology with the mouse jerky gene, which is associated with epilepsy phenotypes 1. However, mutational analysis of the coding region in two CAE families showed that nucleotide changes, including amino acid substitutions, did not co-segregate with the disease phenotype 1. Additionally, physical mapping revealed that JRK/JH8 is located more than 4 Mb distant from the ECA1 gene locus, excluding it as a candidate for childhood absence epilepsy 1. The remaining abstracts discuss unrelated topics including psilocybin treatment for depression, breast cancer therapy, heart failure genetics, hormone-responsive neurons, and RNA modifications, providing no information about JRK gene function. Therefore, the specific molecular mechanisms, disease relevance, and clinical significance of the JRK gene cannot be determined from the available literature.

Sources cited
1
JRK/JH8 was excluded as a candidate gene for childhood absence epilepsy through mutational analysis and physical mapping
PMID: 10510981
⚠Limited data available — This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsⓘ20
gastric ulcerOpen Targets
0.33Weak
duodenal ulcerOpen Targets
0.32Weak
gastric carcinomaOpen Targets
0.23Weak
urinary bladder cancerOpen Targets
0.23Weak
peptic ulcer diseaseOpen Targets
0.22Weak
schizophreniaOpen Targets
0.21Weak
breast diseaseOpen Targets
0.18Weak
gastric cancerOpen Targets
0.18Weak
urinary bladder carcinomaOpen Targets
0.17Weak
Abnormality of limbsOpen Targets
0.16Weak
hepatocellular carcinomaOpen Targets
0.15Weak
colorectal cancerOpen Targets
0.15Weak
ovarian cancerOpen Targets
0.15Weak
biliary tract cancerOpen Targets
0.15Weak
endometrial cancerOpen Targets
0.15Weak
pancreatic carcinomaOpen Targets
0.15Weak
breast carcinomaOpen Targets
0.15Weak
heart diseaseOpen Targets
0.14Weak
atrophic gastritisOpen Targets
0.14Weak
lung cancerOpen Targets
0.14Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TMEM198Shared pathway100%LYPD6Shared pathway100%ME2Protein interaction83%PPM1NShared pathway50%CSNK1G1Shared pathway50%LRRK1Shared pathway50%
Tissue Expression6 tissues
Ovary
100%
Heart
59%
Lung
56%
Brain
54%
Liver
40%
Bone Marrow
34%
Gene Interaction Network
Click a node to explore
JRKTMEM198LYPD6ME2PPM1NCSNK1G1LRRK1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O75564
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.91LoF Tolerant
pLIⓘ
0.14Tolerant
Observed/Expected LoF1.30 [0.30–1.91]
RankingsWhere JRK stands among ~20K protein-coding genes
  • #13,215of 20,598
    Most Researched24
  • #17,329of 17,882
    Most Constrained (LOEUF)1.91
Genes detectedJRK
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Single-Dose Psilocybin for a Treatment-Resistant Episode of Major Depression.
PMID: 36322843
N Engl J Med · 2022
1.00
2
Interrupting Endocrine Therapy to Attempt Pregnancy after Breast Cancer.
PMID: 37133584
N Engl J Med · 2023
0.90
3
Genome-wide association study meta-analysis provides insights into the etiology of heart failure and its subtypes.
PMID: 40038546
Nat Genet · 2025
0.80
4
Single-dose psilocybin for a treatment-resistant episode of major depression: Impact on patient-reported depression severity, anxiety, function, and quality of life.
PMID: 36740140
J Affect Disord · 2023
0.70
5
A functional cellular framework for sex and estrous cycle-dependent gene expression and behavior.
PMID: 35065713
Cell · 2022
0.60