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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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C2CD3
C2 domain containing 3 centriole elongation regulator
Chromosome 11 Β· 11q13.4
NCBI Gene: 26005Ensembl: ENSG00000168014.19HGNC: HGNC:24564UniProt: Q4AC94
42PubMed Papers
21Diseases
0Drugs
82Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
centrosomeciliary basal bodycentriole elongationprotein localization to centrosomeorofaciodigital syndrome type 14orofaciodigital syndromeorofaciodigital syndrome IJeune syndrome
✦AI Summary

C2CD3 is a centriolar protein essential for primary cilium formation and centriole structure. As a positive regulator of centriole elongation 1, C2CD3 functions as a luminal ring organizer with 9-fold radial symmetry within the centriole's distal end, where it acts as an architectural hub connecting the centriolar lumen to distal appendages 2. C2CD3 directly promotes recruitment of distal appendage proteins including CEP164, CEP83, and others required for ciliary anchoring 1, and interacts with CEP120 and Talpid3 to enable appendage assembly 3. At the molecular level, C2CD3 scaffolds the DISCO complex (containing MNR) and stabilizes the luminal ring network composed of SFI1, centrin-2, CEP135, and NA14 2. Beyond centriole biology, C2CD3 is critical for Sonic Hedgehog signaling and GLI3 proteolytic processing 4, 5. Biallelic C2CD3 mutations cause orofaciodigital syndrome 14 (OFD14), characterized by severe microcephaly, cerebral malformations, and skeletal dysplasia 6, 1. Hypomorphic variants can present with isolated nephronophthisis featuring shortened cilia and impaired SHH signaling 5. C2CD3 also exhibits tissue-specific isoforms with critical roles in craniofacial development 7, establishing it as a central organizer of ciliary and developmental signaling.

Sources cited
1
C2CD3 is a positive regulator of centriole elongation, colocalizes with OFD1 at centriole distal ends, and identifies centriole length regulation as a ciliopathy mechanism
PMID: 24997988
2
C2CD3 forms a radially symmetric 9-fold luminal ring structure that acts as an in-to-out organizer connecting centriolar lumen to appendages and interacts with MNR/DISCO complex
PMID: 41364719
3
CEP120 interacts with C2CD3 and Talpid3 to enable centriole appendage assembly and ciliogenesis; disease-associated CEP120 mutations reduce C2CD3 binding affinity
PMID: 30988386
4
C2cd3 is required for cilia formation, Hedgehog signaling, and GLI3 proteolytic processing; localized at basal body
PMID: 19004860
5
C2CD3 mutations cause orofaciodigital syndrome 14 with microcephaly, cerebral malformations, and skeletal dysplasia; involved in basal body maturation
PMID: 27094867
6
Hypomorphic C2CD3 variants cause isolated nephronophthisis with shortened cilia and dysregulated SHH signaling including reduced GLI3 activator and GLI1 expression
PMID: 39690811
7
C2cd3 exhibits tissue-specific isoforms with N-terminal domains critical for early embryonic development and craniofacial development
PMID: 34211969
Disease Associationsβ“˜21
orofaciodigital syndrome type 14Open Targets
0.81Strong
orofaciodigital syndromeOpen Targets
0.64Moderate
orofaciodigital syndrome IOpen Targets
0.60Moderate
Jeune syndromeOpen Targets
0.54Moderate
asphyxiating thoracic dystrophy 3Open Targets
0.50Moderate
Orofaciodigital syndrome type 1Open Targets
0.50Moderate
Short rib-polydactyly syndrome, Verma-Naumoff typeOpen Targets
0.50Moderate
Joubert syndromeOpen Targets
0.47Moderate
Ankle flexion contractureOpen Targets
0.33Weak
Rudimentary fibulaOpen Targets
0.33Weak
genetic disorderOpen Targets
0.19Weak
Alzheimer diseaseOpen Targets
0.05Suggestive
esophageal ulcerOpen Targets
0.05Suggestive
neural tube defects, folate-sensitiveOpen Targets
0.04Suggestive
anencephaly 1Open Targets
0.03Suggestive
Isolated anencephaly/exencephalyOpen Targets
0.03Suggestive
ulnar hemimeliaOpen Targets
0.03Suggestive
metabolic diseaseOpen Targets
0.03Suggestive
Spina bifida - hypospadiasOpen Targets
0.03Suggestive
spina bifida-hypospadias syndromeOpen Targets
0.03Suggestive
Orofaciodigital syndrome 14UniProt
Pathogenic Variants82
NM_001286577.2(C2CD3):c.3911-2A>TPathogenic
Orofaciodigital syndrome type 14|not provided|Malignant tumor of urinary bladder|Fetal anomalies with a likely genetic cause
β˜…β˜…β˜†β˜†2026
NM_001286577.2(C2CD3):c.2969_2972delinsGGTTTACA (p.Ser990fs)Pathogenic
not provided|Orofaciodigital syndrome type 14
β˜…β˜…β˜†β˜†2026β†’ Residue 990
NM_001286577.2(C2CD3):c.708-2_708-1delLikely pathogenic
not provided|Orofaciodigital syndrome type 14
β˜…β˜…β˜†β˜†2025
NM_001286577.2(C2CD3):c.2706_2710dup (p.His904fs)Pathogenic
not provided|Orofaciodigital syndrome type 14
β˜…β˜…β˜†β˜†2025β†’ Residue 904
NM_001286577.2(C2CD3):c.994dup (p.Val332fs)Pathogenic
not provided|Orofaciodigital syndrome type 14
β˜…β˜…β˜†β˜†2025β†’ Residue 332
NM_001286577.2(C2CD3):c.2733_2740delAGATGCTA (p.Ala913fs)Pathogenic
not provided|Orofaciodigital syndrome type 14
β˜…β˜…β˜†β˜†2024β†’ Residue 913
NM_001286577.2(C2CD3):c.2302C>T (p.Arg768Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 768
NM_001286577.2(C2CD3):c.1996C>T (p.Arg666Ter)Pathogenic
not provided|Orofaciodigital syndrome type 14
β˜…β˜…β˜†β˜†2024β†’ Residue 666
NM_001286577.2(C2CD3):c.1861C>T (p.Arg621Ter)Pathogenic
not provided|Orofaciodigital syndrome type 14
β˜…β˜…β˜†β˜†2022β†’ Residue 621
NM_001286577.2(C2CD3):c.519C>A (p.Tyr173Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 173
NM_001286577.2(C2CD3):c.4013G>A (p.Trp1338Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 1338
NM_001286577.2(C2CD3):c.3764del (p.Cys1255fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1255
NM_001286577.2(C2CD3):c.1088+2T>CLikely pathogenic
Orofaciodigital syndrome type 14
β˜…β˜†β˜†β˜†2025
NM_001286577.2(C2CD3):c.1879C>T (p.Gln627Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 627
NM_001286577.2(C2CD3):c.3685del (p.Val1229fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1229
NM_001286577.2(C2CD3):c.2086-1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001286577.2(C2CD3):c.3G>T (p.Met1Ile)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1
NM_001286577.2(C2CD3):c.5210del (p.Gly1737fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1737
NM_001286577.2(C2CD3):c.1274del (p.Pro425fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 425
NM_001286577.2(C2CD3):c.5497del (p.Ser1833fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1833
View on ClinVar β†—
Related Genes
SCLT1Protein interaction100%IFT88Protein interaction82%OFD1Protein interaction79%CEP164Protein interaction79%CEP83Protein interaction77%CEP89Protein interaction74%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
81%
Ovary
41%
Lung
39%
Heart
31%
Liver
27%
Gene Interaction Network
Click a node to explore
C2CD3SCLT1IFT88OFD1CEP164CEP83CEP89
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q4AC94
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.64LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.54 [0.46–0.64]
RankingsWhere C2CD3 stands among ~20K protein-coding genes
  • #9,842of 20,598
    Most Researched42
  • #914of 5,498
    Most Pathogenic Variants82 Β· top quartile
  • #4,540of 17,882
    Most Constrained (LOEUF)0.64
Genes detectedC2CD3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 20301500
1.00
2
Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function.
PMID: 27094867
Sci Rep Β· 2016
0.90
3
CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis.
PMID: 30988386
Sci Rep Β· 2019
0.80
4
The luminal ring protein C2CD3 acts as a radial in-to-out organizer of the distal centriole and appendages.
PMID: 41364719
PLoS Biol Β· 2025
0.70
5
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.
PMID: 24997988
Nat Genet Β· 2014
0.60