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Tbio
CCDC40
Coiled-coil domain-containing protein 40

Protein Summary
Description
Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella (PubMed:21131974). Probably acts together with CCDC39 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39 (PubMed:21131974). This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000269318
  • ENSP00000269318
  • ENSG00000141519
  • ENST00000374876
  • ENSP00000364010
  • ENST00000374877
  • ENSP00000364011
  • ENST00000397545
  • ENSP00000380679

Symbol
  • KIAA1640
  • CILD15
  • FAP172
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
virus perturbation
0.96
transcription factor
0.72
microRNA
0.68
cell line
0.67
transcription factor binding site profile
0.57


Protein Classes
No PANTHER Classes or DTO Classes found
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 15.42   (req: < 5)
Gene RIFs: 6   (req: <= 3)
Antibodies: 48   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 15.42   (req: >= 5)
Gene RIFs: 6   (req: > 3)
Antibodies: 48   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 15
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
No expression data found
Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (118)
TRAF5
Tbio
Novelty:  0.01238512
p_int:  0.99999998
p_ni:  1.2e-8
p_wrong:  9e-9
Score:  0.239
Data Source:  BioPlex,STRINGDB
ANKRD26
Tbio
Novelty:  0.02266046
p_int:  0.999999959
p_ni:  1.9e-8
p_wrong:  2.2e-8
Score:  0.188
Data Source:  BioPlex,STRINGDB
UNC13B
Tbio
Novelty:  0.00429808
p_int:  0.999999898
p_ni:  8.6e-8
p_wrong:  1.6e-8
Score:  0.199
Data Source:  BioPlex,STRINGDB
CENPH
Tbio
Novelty:  0.02845079
p_int:  0.999998692
p_ni:  0.000001308
Score:  0.179
Data Source:  BioPlex,STRINGDB
HMMR
Tchem
Novelty:  0.0039196
p_int:  0.999994004
p_ni:  0.000005996
Score:  0.222
Data Source:  BioPlex,STRINGDB
BRK1
Tbio
Novelty:  0.02289534
p_int:  0.999989022
p_ni:  0.000009362
p_wrong:  0.000001616
Data Source:  BioPlex
VPS53
Tbio
Novelty:  0.07513165
p_int:  0.999959586
p_ni:  0.000040414
Data Source:  BioPlex
TNIP2
Tbio
Novelty:  0.03640252
p_int:  0.999934922
p_ni:  0.000065076
p_wrong:  2e-9
Score:  0.173
Data Source:  BioPlex,STRINGDB
COG4
Tbio
Novelty:  0.03809668
p_int:  0.999772741
p_ni:  0.000227258
p_wrong:  1e-9
Data Source:  BioPlex
FAM83D
Tbio
Novelty:  0.07381559
p_int:  0.99880831
p_ni:  0.00119169
Score:  0.625
Data Source:  BioPlex,STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Viral Interactions (0)
No viral interactions found
Gene Ontology Terms (19)
Find Similar Targets
Items per page:
10
1 – 4 of 4
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
SYSCILIA_CCNET
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Sequence or structural Similarity (ISS)
UniProtKB
Inferred from Electronic Annotation (IEA)
Ensembl
Disease Associations ()
No disease associations found
GWAS Traits (11)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean reticulocyte volume
1
2
2
88.6
reticulocyte measurement
3
2
5
87.4
reticulocyte count
7
2
9
87.3
mean corpuscular volume
1
1
1
73
1
1
0
1.4
68.8
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean reticulocyte volume
2
88.6
reticulocyte measurement
5
87.4
reticulocyte count
9
87.3
mean corpuscular volume
1
73
0
1.4
68.8
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
coiled-coil domain containing 40
VGNC:9227
454938
Macaque
coiled-coil domain containing 40
717836
Mouse
MGI:2443893
207607
Rat
RGD:1592118
287867
Dog
coiled-coil domain containing 40
VGNC:38837
483351
Species
Name
OMA
EggNOG
Inparanoid
Chimp
coiled-coil domain containing 40
Macaque
coiled-coil domain containing 40
Mouse
Rat
Dog
coiled-coil domain containing 40
Publication Statistics
PubMed Score 15.42
PubMed score by year
PubTator Score 8.88
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title