| Type | Description |
|---|---|
| Definition | coiled-coil and C2 domain containing 2A |
| Date | Results | Publications |
|---|---|---|
| 2020-04-18 10:38:00 | Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants. | 31577543 |
| 2020-04-04 12:08:00 | Our study identifies for the first time CC2D2A mutations in isolated RCD and underlines the power of WES to decipher complex phenotypes. | 30267408 |
| 2017-08-26 11:40:00 | Mutations in CC2D2A were the most common cause of an antenatal cystic kidney disease and a suspected ciliopathy in Saudi Arabian cohort. | 26862157 |
| 2017-05-13 19:31:00 | Using a dedicated bioinformatics algorithm for TE detection, we identified an exonic retrotransposon insertion of L1 to the CC2D2A locus in a patient with Meckel-Gruber syndrome, the most severe form of the ciliopathy phenotypes. | 28374938 |
| 2016-06-04 10:49:00 | these data support a model where CC2D2A associates with NINL to provide a docking point for cilia-directed cargo vesicles, suggesting a mechanism by which transition zone proteins can control the protein content of the ciliary compartment. | 26485645 |
| Type | IDs |
|---|---|
| Synonymous | JBTS9, MKS6 |
| Gene |
UniProtKB-ID:
C2D2A_HUMAN
UniprotKB:
Q9P2K1
UniParc:
UPI00001C1E19,
UPI000020BD23,
UPI000023731A,
UPI000041394B
EMBL:
CH471069,
BC053865,
BC070395,
AC116651,
AB037766,
AK023876,
AC007016,
BC103710,
EU450799
Ensembl:
ENSG00000048342
KO:
hsa:57545
|
| Nucleutide sequences |
EMBL-CDS:
EAW92734.1,
ACC96081.1,
BAA92583.1,
AAI03711.1,
BAB14710.1
Ensembl_TRS:
ENST00000424120,
ENST00000515124,
ENST00000438599,
ENST00000503292,
ENST00000507954,
ENST00000503658
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000424368,
ENSP00000401154,
ENSP00000403465,
ENSP00000427221,
ENSP00000421809,
ENSP00000426846
RefSeq:
NP_001073991.2,
XP_011512174.1,
NP_065836.2,
XP_011512176.1,
NP_001365546.1,
NP_001158192.1,
NP_001365544.1
|
| Others |
UniRef100:
UniRef100_Q9P2K1
UniRef90:
UniRef90_Q9P2K1
UniRef50:
UniRef50_Q9P2K1
UniGene:
Hs.590928
CCDS:
CCDS47026.1,
CCDS47027.2,
CCDS54744.1
|
| {{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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