| Type | Description |
|---|---|
| Definition | C2 calcium dependent domain containing 3 |
| Date | Results | Publications |
|---|---|---|
| 2020-10-10 12:58:00 | CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis. | 30988386 |
| 2019-03-30 11:15:00 | Biallelic C2CD3 variants lead to a broad spectrum of ciliopathy phenotypes. | 30097616 |
| 2019-02-02 12:26:00 | Talpid3, C2CD3, and OFD1 differentially regulate the assembly of centriole sub-distal appendages, the CEP350/FOP/CEP19 module, centriolar satellites, and actin networks. | 30258116 |
| 2017-03-11 12:47:00 | Our data provide further evidence that mutations in C2CD3 cause a ciliopathy in humans and expand the previously reported phenotype resulting from C2CD3 dysfunction. | 27094867 |
| 2015-11-14 10:42:00 | we uncover that SAS-1 is related to C2CD3, a protein required for complete centriole formation in human cells and affected in a type of oral-facial-digital (OFD) syndrome | 25412110 |
| Type | IDs |
|---|---|
| Synonymous | OFD14 |
| Gene |
UniProtKB-ID:
C2CD3_HUMAN
UniprotKB:
Q4AC94
UniParc:
UPI0001AE6C3C,
UPI0001E88EAF,
UPI0001E88EB0,
UPI0001AE6C29,
UPI0000D62650
EMBL:
BC035599,
AP002392,
AB231764,
AK125894,
AP003717,
AB231763,
AL833903,
AL080220,
AK091397,
AP000577,
BC110508
Ensembl:
ENSG00000168014
KO:
hsa:26005
|
| Nucleutide sequences |
EMBL-CDS:
BAE46898.1,
BAE17137.1,
CAB45779.1,
BAC86334.1,
AAI10509.1,
AAH35599.1,
BAC03654.1,
CAD38759.1
Ensembl_TRS:
ENST00000334126,
ENST00000313663
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000334379,
ENSP00000323339
RefSeq:
XP_016873003.1,
XP_016873000.1,
NP_001273506.1,
NP_056346.3,
XP_016873001.1,
XP_016872999.1,
XP_016873004.1,
XP_016873002.1,
XP_011543206.1,
XP_016873005.1,
XP_011543207.1
|
| Others |
UniRef100:
UniRef100_Q4AC94
UniRef90:
UniRef90_Q4AC94
UniRef50:
UniRef50_Q4AC94
UniGene:
Hs.557938,
Hs.694798
CCDS:
CCDS31636.1,
CCDS66167.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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