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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CC2D2B
coiled-coil and C2 domain containing 2B
Chromosome 10 Β· 10q24.1
NCBI Gene: 387707Ensembl: ENSG00000188649.16HGNC: HGNC:31666UniProt: Q6DHV5
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein localization to ciliary transition zonenon-motile cilium assemblyciliary transition zonealcohol drinkingbenign vaginal neoplasmdiverticular diseaseAbruptio Placentae
✦AI Summary

CC2D2B (coiled-coil and C2 domain containing 2B) is a ciliary protein localized to the ciliary transition zone, where it contributes to non-motile cilium assembly 1. The protein contains transglutaminase-like (TGL) peptidase domains and C2 domains, which are key structural modules for protein-protein interactions and membrane localization during ciliogenesis 1. CC2D2B functions as part of ciliary protein complexes implicated in ciliopathies, with structural homology to other transition zone components involved in Nephronophthisis and Meckel-Gruber syndrome pathways 1. Clinically, CC2D2B emerges as a genetic disease modifier: a CC2D2B variant (c.190A>G, rs17383738) shows significant association with hereditary angioedema due to C1 inhibitor deficiency, with heterozygotes being more prevalent in asymptomatic patients (55% vs 23% in symptomatic patients; P = 0.049) 2. Additionally, CC2D2B is identified as a potential target gene of miRNAs dysregulated in nasopharyngeal carcinoma, suggesting broader roles in tissue homeostasis 3. These findings indicate CC2D2B functions in ciliary biogenesis while also modulating clinical disease phenotypes in unrelated genetic disorders.

Sources cited
1
CC2D2B contains transglutaminase-like peptidase and C2 domains; localizes to ciliary transition zone and participates in ciliary protein complexes involved in ciliogenesis
PMID: 22983010
2
CC2D2B c.190A>G variant is more frequent in asymptomatic versus symptomatic HAE-C1-INH patients, identifying it as a disease-modifying genetic factor
PMID: 38679185
3
CC2D2B is a potential target gene of dysregulated miRNAs in nasopharyngeal carcinoma
PMID: 40232237
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
alcohol drinkingOpen Targets
0.34Weak
benign vaginal neoplasmOpen Targets
0.20Weak
diverticular diseaseOpen Targets
0.05Suggestive
Abruptio PlacentaeOpen Targets
0.05Suggestive
large cell medulloblastomaOpen Targets
0.01Suggestive
papillary thyroid carcinomaOpen Targets
0.01Suggestive
lumbar disc degenerationOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
Hyperintensity of cerebral white matter on MRIOpen Targets
0.00Suggestive
Down syndromeOpen Targets
0.00Suggestive
gestational diabetesOpen Targets
0.00Suggestive
periodontitisOpen Targets
0.00Suggestive
nasopharyngeal carcinomaOpen Targets
0.00Suggestive
COVID-19Open Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
Testicular Germ Cell TumorOpen Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
CC2D2AShared pathway50%TMEM107Shared pathway50%TMEM17Shared pathway50%TMEM80Shared pathway50%ARL13AShared pathway50%RPGRIP1LShared pathway40%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
38%
Lung
7%
Ovary
4%
Brain
3%
Liver
2%
Gene Interaction Network
Click a node to explore
CC2D2BCC2D2ATMEM107TMEM17TMEM80ARL13ARPGRIP1L
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6DHV5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.83LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.60 [0.43–0.83]
RankingsWhere CC2D2B stands among ~20K protein-coding genes
  • #15,221of 20,598
    Most Researched16
  • #7,115of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedCC2D2B
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
The CC2D2B is a novel genetic modifier of the clinical phenotype in patients with hereditary angioedema due to C1 inhibitor deficiency.
PMID: 38679185
Gene Β· 2024
1.00
2
A three-miRNA panel in serum: Serving as a novel diagnostic method for nasopharyngeal carcinoma.
PMID: 40232237
Int J Biol Markers Β· 2025
0.67
3
Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment.
PMID: 22983010
Cell Cycle Β· 2012
0.33