C2CD3 Chromosome 11
C2 domain containing 3 centriole elongation regulator
Upload your DNA to see your personal genotypes for variants in C2CD3.
What This Gene Does
This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment of other ciliogenic proteins, including intraflagellar transport proteins. Mutations in this gene cause orofaciodigital syndrome XIV (OFD14), a ciliopathy resulting in malformations of the oral cavity, face and digits. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Gene Info
Gene Group
C2 domain containing
Locus Type
gene with protein product
Location
11q13.4
Ensembl
ENSG00000168014
Associated Conditions (11)
Jeune thoracic dystrophy
Inborn genetic diseases
Orofaciodigital syndrome type 14
C2CD3-related disorder
Gastric cancer
Congenital portosystemic shunt
Joubert syndrome
Rudimentary fibula
Ankle flexion contracture
See cases
Malignant tumor of urinary bladder
Key Variants
RS1064793399
Conflicting classifications of pathogenicity
Jeune thoracic dystrophy, Jeune thoracic dystrophy
Health Risk
RS138354490
Conflicting classifications of pathogenicity
Inborn genetic diseases, Orofaciodigital syndrome type 14, Inborn genetic diseases
Health Risk
RS138398942
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1398494529
Conflicting classifications of pathogenicity
Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14
Health Risk
RS140484776
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141252362
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141407711
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141518273
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142277857
Conflicting classifications of pathogenicity
C2CD3-related disorder, C2CD3-related disorder
Health Risk
RS142665056
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143196767
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144359377
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (107)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1953100514 | Health Risk | Likely pathogenic | — |
| RS2496410381 | Health Risk | Likely pathogenic | Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14 |
| RS2496419846 | Health Risk | Likely pathogenic | C2CD3-related disorder, C2CD3-related disorder |
| RS2496420529 | Health Risk | Likely pathogenic | C2CD3-related disorder, C2CD3-related disorder |
| RS2496439292 | Health Risk | Likely pathogenic | Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14 |
| RS2496722228 | Health Risk | Likely pathogenic | Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14 |
| RS755686768 | Health Risk | Likely pathogenic | Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14 |
| RS758396296 | Health Risk | Likely pathogenic | — |
| RS762444001 | Health Risk | Likely pathogenic | — |
| RS769076549 | Health Risk | Likely pathogenic | Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14 |
| RS774746175 | Health Risk | Likely pathogenic | — |
| RS777494204 | Health Risk | Likely pathogenic | — |
| RS1064793941 | Health Risk | Pathogenic | — |
| RS1181985736 | Health Risk | Pathogenic | — |
| RS1269233569 | Health Risk | Pathogenic | — |
| RS1356626353 | Health Risk | Pathogenic | — |
| RS1382351297 | Health Risk | Pathogenic | Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14 |
| RS143397183 | Health Risk | Pathogenic | — |
| RS1437215284 | Health Risk | Pathogenic | — |
| RS1487422663 | Health Risk | Pathogenic | — |
| RS1565215813 | Health Risk | Pathogenic | — |
| RS1565237232 | Health Risk | Pathogenic | Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14 |
| RS1565358555 | Health Risk | Pathogenic | — |
| RS1590991247 | Health Risk | Pathogenic | — |
| RS1856940653 | Health Risk | Pathogenic | — |
| RS1953562945 | Health Risk | Pathogenic | — |
| RS1955172101 | Health Risk | Pathogenic | — |
| RS1956643860 | Health Risk | Pathogenic | — |
| RS2135428776 | Health Risk | Pathogenic | — |
| RS2135581709 | Health Risk | Pathogenic | — |
| RS2496232377 | Health Risk | Pathogenic | — |
| RS2496387746 | Health Risk | Pathogenic | — |
| RS2496403626 | Health Risk | Pathogenic | — |
| RS2496409837 | Health Risk | Pathogenic | — |
| RS2496414821 | Health Risk | Pathogenic | — |
| RS2496420567 | Health Risk | Pathogenic | — |
| RS2496448304 | Health Risk | Pathogenic | — |
| RS2496471186 | Health Risk | Pathogenic | — |
| RS2496492248 | Health Risk | Pathogenic | — |
| RS2496597718 | Health Risk | Pathogenic | — |
| RS370615429 | Health Risk | Pathogenic | — |
| RS539141247 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS587777653 | Health Risk | Pathogenic | Orofaciodigital syndrome type 14, Joubert syndrome, Orofaciodigital syndrome type 14 |
| RS587777654 | Health Risk | Pathogenic | Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14 |
| RS747183300 | Health Risk | Pathogenic | — |
| RS752638694 | Health Risk | Pathogenic | — |
| RS760073211 | Health Risk | Pathogenic | — |
| RS760575386 | Health Risk | Pathogenic | — |
| RS771250864 | Health Risk | Pathogenic | — |
| RS773386256 | Health Risk | Pathogenic | — |