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4 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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JRKL
JRK like
Chromosome 11 · 11q21
NCBI Gene: 8690Ensembl: ENSG00000183340.8HGNC: HGNC:6200UniProt: Q9Y4A0
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA bindingnucleuscentral nervous system developmentnucleic acid bindingsmoking initiationTietze syndromemusculoskeletal system diseasedevice complication
✦AI Summary

JRKL (JRK like) is a nuclear DNA-binding protein involved in central nervous system development [GO annotations]. Limited functional data are available in the provided literature; however, JRKL has been identified as a genetic susceptibility locus associated with inflammatory and autoimmune conditions. Genome-wide association studies identified JRKL/CNTN5 as a novel susceptibility locus for Behçet's disease (BD), a systemic vasculitis, with the rs2848479 variant showing significant association (P = 5.00E-08, OR = 1.68 in discovery; P = 3.29E-10, OR = 1.66 in validation) 1. JRKL was also implicated in palindromic rheumatism pathogenesis, with whole-exome sequencing identifying novel polygenic mutations in JRKL among seronegative patients 2. Additionally, JRKL exhibited differential enhancer-promoter interactions in doxorubicin-resistant breast cancer cells, suggesting potential involvement in chr11 organization and cancer-related transcriptional regulation 3. A comprehensive Behçet's disease genetics review confirmed JRKL/CNTN5 among multiple genetic variants associated with disease pathogenesis 4. The precise molecular mechanisms by which JRKL contributes to these disease phenotypes remain unclear and warrant further functional investigation.

Sources cited
1
JRKL/CNTN5 region identified as novel BD susceptibility locus with rs2848479 variant showing significant association in discovery and validation cohorts
PMID: 27548383
2
Novel polygenic mutations in JRKL identified via whole-exome sequencing in seronegative palindromic rheumatism patients
PMID: 35819819
3
JRKL identified as differentially expressed gene with altered enhancer-promoter interactions in doxorubicin-resistant breast cancer cells
PMID: 36003143
4
JRKL/CTCN5 confirmed among genetic variants associated with Behçet's disease pathogenesis in comprehensive review
PMID: 38983559
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
smoking initiationOpen Targets
0.16Weak
Tietze syndromeOpen Targets
0.15Weak
musculoskeletal system diseaseOpen Targets
0.15Weak
device complicationOpen Targets
0.14Weak
cardiac transplantOpen Targets
0.14Weak
cervical carcinomaOpen Targets
0.13Weak
pulmonary vascular congestionOpen Targets
0.13Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.12Weak
male reproductive organ cancerOpen Targets
0.12Weak
mathematical abilityOpen Targets
0.12Weak
retinoschisisOpen Targets
0.07Suggestive
gastrointestinal diseaseOpen Targets
0.05Suggestive
retinopathyOpen Targets
0.05Suggestive
ulcerative colitisOpen Targets
0.05Suggestive
type 2 diabetes mellitusOpen Targets
0.04Suggestive
Epidermal Inclusion CystOpen Targets
0.04Suggestive
strictureOpen Targets
0.04Suggestive
benign soft tissue neoplasmOpen Targets
0.03Suggestive
metabolic diseaseOpen Targets
0.03Suggestive
sudden cardiac arrestOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BTDShared pathway100%NHLH1Shared pathway100%NHLH2Shared pathway100%NPAS1Shared pathway100%ZIC5Shared pathway100%ZIC4Shared pathway100%
Tissue Expression6 tissues
Heart
100%
Ovary
86%
Brain
64%
Lung
59%
Liver
54%
Bone Marrow
32%
Gene Interaction Network
Click a node to explore
JRKLBTDNHLH1NHLH2NPAS1ZIC5ZIC4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9Y4A0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.00LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.73 [0.53–1.00]
RankingsWhere JRKL stands among ~20K protein-coding genes
  • #16,193of 20,598
    Most Researched13
  • #9,701of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedJRKL
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Genetics in Behcet's Disease: An Update Review.
PMID: 38983559
Front Ophthalmol (Lausanne) · 2022
1.00
2
Reorganization of 3D chromatin architecture in doxorubicin-resistant breast cancer cells.
PMID: 36003143
Front Cell Dev Biol · 2022
0.75
3
Genetic Analysis with the Immunochip Platform in Behçet Disease. Identification of Residues Associated in the HLA Class I Region and New Susceptibility Loci.
PMID: 27548383
PLoS One · 2016
0.50
4
Assessing the Immune Cell Subset and Genetic Mutations in Patients With Palindromic Rheumatism Seronegative for Rheumatoid Factor and Anti-Cyclic Citrullinated Peptide.
PMID: 35819819
Arthritis Rheumatol · 2023
0.25