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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RIBC2
RIB43A domain with coiled-coils 2
Chromosome 22 · 22q13.31
NCBI Gene: 26150Ensembl: ENSG00000128408.9HGNC: HGNC:13241UniProt: Q9H4K1
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnucleusaxonemal microtubuleaxonemal A tubule inner sheathAbnormality of the skeletal systemdenturesresponse to antihypertensive drugneurodegenerative disease
✦AI Summary

RIBC2 (RIB43A domain with coiled-coils 2) is a microtubule inner protein (MIP) localized to the inner lumen of dynein-decorated doublet microtubules (DMTs) in cilia and sperm flagella 1. The protein is part of the axonemal structure required for motile cilia beating and sperm flagellum function 1. RIBC2 expression is regulated by a common functional variant rs2272804 in its 5'UTR that creates an upstream open reading frame, reducing translational efficiency by 85% 2. In vivo studies demonstrate that RIBC1 and RIBC2 function cooperatively to regulate sperm motility; double-knockout mice show significantly reduced sperm velocity and decreased litter size, though axonemal structure remains intact 3. Beyond its ciliary role, RIBC2 is aberrantly regulated in multiple cancers and disease states. Hypomethylation of RIBC2 CpG sites associates with Vogt-Koyanagi-Harada disease pathogenesis 4. RIBC2 is upregulated in esophageal cancer and serves as a diagnostic/prognostic biomarker linked to unfavorable clinicopathological features and immune-excluded tumor microenvironments 5. Additionally, RIBC2 is identified as a prognostic hub gene in cervical cancer and hepatocellular carcinoma signatures 6, 7, 8. These findings reveal RIBC2's dual role in ciliary function and cancer-associated pathways.

Sources cited
1
RIBC2 is a motile cilia-associated gene localized to axonemal structures
PMID: 32616903
2
rs2272804 variant in RIBC2 5'UTR creates uORF reducing translational efficiency by 85%
PMID: 32329860
3
RIBC1 and RIBC2 function cooperatively in sperm motility; double-knockout causes reduced velocity and litter size
PMID: 40265983
4
RIBC2 CpG site hypomethylation associates with Vogt-Koyanagi-Harada disease
PMID: 37394087
5
RIBC2 is upregulated in esophageal cancer and serves as diagnostic/prognostic biomarker
PMID: 41666178
6
RIBC2 identified as key gene in six-gene cervical cancer survival signature
PMID: 34674573
7
RIBC2 is a hub gene and independent prognostic factor in cervical cancer
PMID: 34530829
8
RIBC2 included in 17-gene overweight/obesity-associated signature for hepatocellular carcinoma prognosis
PMID: 36714595
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.47Moderate
denturesOpen Targets
0.42Moderate
response to antihypertensive drugOpen Targets
0.34Weak
neurodegenerative diseaseOpen Targets
0.31Weak
ovarian neoplasmOpen Targets
0.29Weak
hypertrophic cardiomyopathyOpen Targets
0.05Suggestive
cholelithiasisOpen Targets
0.04Suggestive
tooth diseaseOpen Targets
0.03Suggestive
androgenetic alopeciaOpen Targets
0.03Suggestive
male reproductive system diseaseOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
prostate carcinomaOpen Targets
0.02Suggestive
adolescent idiopathic scoliosisOpen Targets
0.02Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
ependymomaOpen Targets
0.01Suggestive
obesityOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
nasopharyngeal neoplasmOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SPEM3Shared pathway100%TEKTIP1Shared pathway100%CFAP144Shared pathway100%CIMIP2AShared pathway100%SPMIP10Shared pathway100%CFAP141Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
70%
Ovary
3%
Lung
3%
Liver
1%
Heart
0%
Gene Interaction Network
Click a node to explore
RIBC2SPEM3TEKTIP1CFAP144CIMIP2ASPMIP10CFAP141
PROTEIN STRUCTURE
Preparing viewer…
PDB7UNG · 3.60 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.24LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.95 [0.73–1.24]
RankingsWhere RIBC2 stands among ~20K protein-coding genes
  • #13,726of 20,598
    Most Researched22
  • #13,088of 17,882
    Most Constrained (LOEUF)1.24
Genes detectedRIBC2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Epigenome-wide association study identifies Vogt-Koyanagi-Harada disease-associated DNA methylation loci in Chinese.
PMID: 37394087
Exp Eye Res · 2023
1.00
2
Integrative bioinformatics and experiments identify RIBC2 as a key regulator in the esophageal cancer.
PMID: 41666178
PLoS One · 2026
0.90
3
Identifying a cervical cancer survival signature based on mRNA expression and genome-wide copy number variations.
PMID: 34674573
Exp Biol Med (Maywood) · 2022
0.80
4
The transcriptional signature associated with human motile cilia.
PMID: 32616903
Sci Rep · 2020
0.70
5
A common variant rs2272804 in the 5'UTR of RIBC2 inhibits downstream gene expression by creating an upstream open reading frame.
PMID: 32329860
Eur Rev Med Pharmacol Sci · 2020
0.60