| Type | Description |
|---|---|
| Definition | coiled-coil domain containing 40 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-06 13:52:00 | Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia. | 31650533 |
| 2018-10-20 11:18:00 | A novel mutation causing primary ciliary dyskinesia was found in Japanese patients. | 28939216 |
| 2017-06-24 10:44:00 | Results identified a novel mutant alleles in CCDC40 gene, which altered the protein sequence and resulted in the ultrastructural defects in the microtubule structure of cilia suggesting that CCDC40 mutation may be a cause for ciliary dyskinesia. | 25619595 |
| 2015-04-25 12:51:00 | Lung disease was worse in those with IDA/CA/MTD ultrastructural defects, most of whom had biallelic mutations in ccdc40. | 25493340 |
| 2013-08-31 12:04:00 | This study shows that CCDC39 and CCDC40 mutations are the major cause of Primary ciliary dyskinesia in patients with the previously termed "radial spoke defect". | 23255504 |
| Type | IDs |
|---|---|
| Synonymous | CILD15, FAP172 |
| Gene |
UniProtKB-ID:
CCD40_HUMAN
UniprotKB:
Q4G0X9
UniParc:
UPI00001D62B6,
UPI00006C181B,
UPI0000201739,
UPI000004A10C,
UPI000023768A
EMBL:
CH471099,
BC058288,
BC035251,
AC087741,
AC116025,
AB046860,
AK000760
Ensembl:
ENSG00000141519
KO:
hsa:55036
|
| Nucleutide sequences |
EMBL-CDS:
AAH58288.1,
BAA91365.1,
EAW89578.1,
EAW89579.1,
BAB13466.1,
AAH35251.1
Ensembl_TRS:
ENST00000397545,
ENST00000374876,
ENST00000374877,
ENST00000269318
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000269318,
ENSP00000380679,
ENSP00000364011,
ENSP00000364010
RefSeq:
NP_060420.2,
XP_024306589.1,
XP_011523267.1,
XP_011523265.1,
XP_016880296.1,
XP_011523266.1,
NP_001317437.1,
NP_001230271.1
|
| Others |
UniRef100:
UniRef100_Q4G0X9
UniRef90:
UniRef90_Q4G0X9
UniRef50:
UniRef50_Q4G0X9
UniGene:
Hs.202542
CCDS:
CCDS42395.1,
CCDS82212.1,
CCDS58604.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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