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9 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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C1orf141
chromosome 1 open reading frame 141
Chromosome 1 · 1p31.3
NCBI Gene: 400757Ensembl: ENSG00000203963.12HGNC: HGNC:32044UniProt: F2Z2X7
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
sarcoidosispsoriasisleprosyCrohn's disease
✦AI Summary

C1orf141 is a genetic locus located on chromosome 1 that functions as a susceptibility gene for multiple inflammatory diseases. Positioned adjacent to IL23R, the C1orf141-IL23R locus represents a major genetic risk factor for several conditions. In sarcoidosis, this locus shows the largest effect size among identified susceptibility loci 1, with disease-risk alleles associated with reduced IL23R expression 2. The locus is strongly associated with Vogt-Koyanagi-Harada (VKH) disease, a systemic inflammatory disorder affecting pigmented tissues including the eye, with multiple SNPs (rs78377598, rs117633859) showing significant associations across populations 34. The risk allele in the IL23R promoter region exhibits diminished transcriptional activation and reduced IL23R mRNA expression 4. C1orf141 variants are also implicated in uveitis susceptibility more broadly 5 and psoriasis 6. The shared genetic pathway involves IL23R-mediated immune regulation, suggesting that C1orf141-IL23R dysfunction compromises host defense and promotes aberrant T cell activation and cytokine production 1. These associations are evident across multiple ethnic populations, establishing C1orf141 as a clinically relevant genetic risk factor for inflammatory and autoimmune diseases.

Sources cited
1
C1orf141-IL23R locus shows the largest effect size among sarcoidosis susceptibility loci
PMID: 40075078
2
Disease-risk alleles in IL23R are associated with reduced IL23R expression in sarcoidosis
PMID: 32826979
3
IL23R-C1orf141 variants (rs78377598, rs117633859) are associated with VKH disease susceptibility in Japanese population
PMID: 32437414
4
IL23R-C1orf141 rs117633859 risk allele in promoter region shows low transcriptional activation and diminished IL23R mRNA expression
PMID: 25108386
5
IL23R/C1orf141 variants are associated with uveitis susceptibility
PMID: 31669406
6
C1orf141 is a new susceptibility locus for psoriasis
PMID: 25854761
7
C1orf141-IL23R locus involvement in T cell activation and cytokine production pathways in sarcoidosis
PMID: 40075078
Disease Associationsⓘ20
sarcoidosisOpen Targets
0.50Moderate
psoriasisOpen Targets
0.46Moderate
leprosyOpen Targets
0.45Moderate
Crohn's diseaseOpen Targets
0.42Moderate
psoriatic arthritisOpen Targets
0.42Moderate
inflammatory bowel diseaseOpen Targets
0.35Weak
psoriasis vulgarisOpen Targets
0.34Weak
immune system diseaseOpen Targets
0.33Weak
idiopathic pulmonary fibrosisOpen Targets
0.33Weak
Abruptio PlacentaeOpen Targets
0.29Weak
hypertrophic cardiomyopathyOpen Targets
0.28Weak
ocular hypotensionOpen Targets
0.27Weak
nephrotic syndromeOpen Targets
0.22Weak
Vogt-Koyanagi-Harada diseaseOpen Targets
0.10Weak
ulcerative colitisOpen Targets
0.08Suggestive
ankylosing spondylitisOpen Targets
0.07Suggestive
sclerosing cholangitisOpen Targets
0.05Suggestive
enteritisOpen Targets
0.04Suggestive
Precordial painOpen Targets
0.04Suggestive
rheumatoid arthritisOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZNF365Co-mentioned in literature22%
Tissue Expression6 tissues
Brain
100%
Ovary
42%
Lung
21%
Bone Marrow
5%
Liver
5%
Heart
0%
Gene Interaction Network
Click a node to explore
C1orf141ZNF365
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5JVX7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.90LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.27 [0.66–1.90]
RankingsWhere C1orf141 stands among ~20K protein-coding genes
  • #17,281of 20,598
    Most Researched9
  • #17,246of 17,882
    Most Constrained (LOEUF)1.90
Genes detectedC1orf141
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Uveitis genetics.
PMID: 31669406
Exp Eye Res · 2020
1.00
2
Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis.
PMID: 25854761
Nat Commun · 2015
0.89
3
GWAS identifies genetic loci, lifestyle factors and circulating biomarkers that are risk factors for sarcoidosis.
PMID: 40075078
Nat Commun · 2025
0.78
4
Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis.
PMID: 32826979
Commun Biol · 2020
0.67
5
Variants in IL23R-C1orf141 and ADO-ZNF365-EGR2 are associated with susceptibility to Vogt-Koyanagi-Harada disease in Japanese population.
PMID: 32437414
PLoS One · 2020
0.56