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Tbio Coiled-coil domain-containing protein 40

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]

 Comments

Property Summary

NCBI Gene PubMed Count 12
PubMed Score 5.90
PubTator Score 6.38

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count P-value
posterior fossa group B ependymoma 1530 8.2e-13
malignant mesothelioma 3163 5.0e-06
lung cancer 4473 8.0e-04
osteosarcoma 7933 8.6e-04
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Situs Inversus 52 5.03 2.5
Bronchiectasis 29 3.549 1.8

Expression

  Differential Expression (4)

Disease log2 FC p
malignant mesothelioma -1.500 5.0e-06
posterior fossa group B ependymoma 2.600 8.2e-13
osteosarcoma 1.252 8.6e-04
lung cancer 1.200 8.0e-04

Synonym

Accession Q4G0X9 A8MTD2 C9JTI9 C9JTJ0 C9JXW1 J3QSY2 Q6PE47 Q9HCD2 Q9NWL5
Symbols CILD15
FAP172

Gene

CCDC40

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 UniProt Keyword (11)

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 GO Component (3)

 GO Process (13)

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 Compartment GO Term (30)

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 MGI Phenotype (6)

 GWAS Trait (1)

 HCA RNA Cell Line (56)

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Protein-protein Interaction (18)

VPS53   KIAA0319L   COG4   POTEI   STIM1   HMMR   PSMC3   TMTC4   ANKRD26   PSMD9   UNC13B   CENPH   FAM83D   TRAF5   PCM1   CYTH2   CYTH1   TNIP2  

Gene RIF (4)

PMID Text
25493340 Lung disease was worse in those with IDA/CA/MTD ultrastructural defects, most of whom had biallelic mutations in ccdc40.
23255504 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".
22693285 Aiming to delineate the CCDC39/CCDC40 mutation spectrum and associated phenotypes, a large cohort of patients with IDA defects were screened. Biallelic CCDC39 or CCDC40 mutations were identified in 30/34 unrelated families with IDA defects.
21131974 CCDC40 mutations in humans result in a variant of primary ciliary dyskinesia characterized by misplacement of the central pair of microtubules and defective assembly of inner dynein arms and dynein regulatory complexes.

AA Sequence 

MAEPGGAAGRSHPEDGSASEGEKEGNNESHMVSPPEKDDGQKGEEAVGSTEHPEEVTTQAEAAIEEGEVE      1 - 70
TEGEAAVEGEEEAVSYGDAESEEEYYYTETSSPEGQISAADTTYPYFSPPQELPGEEAYDSVSGEAGLQG     71 - 140
FQQEATGPPESRERRVTSPEPSHGVLGPSEQMGQVTSGPAVGRLTGSTEEPQGQVLPMGVQHRFRLSHGS    141 - 210
DIESSDLEEFVSQEPVIPPGVPDAHPREGDLPVFQDQIQQPSTEEGAMAERVESEGSDEEAEDEGSQLVV    211 - 280
LDPDHPLMVRFQAALKNYLNRQIEKLKLDLQELVVATKQSRAQRQELGVNLYEVQQHLVHLQKLLEKSHD    281 - 350
RHAMASSERRQKEEELQAARALYTKTCAAANEERKKLAALQTEMENLALHLFYMQNIDQDMRDDIRVMTQ    351 - 420
VVKKAETERIRAEIEKKKQDLYVDQLTTRAQQLEEDIALFEAQYLAQAEDTRILRKAVSEACTEIDAISV    421 - 490
EKRRIMQQWASSLVGMKHRDEAHRAVLEALRGCQHQAKSTDGEIEAYKKSIMKEEEKNEKLASILNRTET    491 - 560
EATLLQKLTTQCLTKQVALQSQFNTYRLTLQDTEDALSQDQLEQMILTEELQAIRQAIQGELELRRKTDA    561 - 630
AIREKLQEHMTSNKTTKYFNQLILRLQKEKTNMMTHLSKINGDIAQTTLDITHTSSRLDAHQKTLVELDQ    631 - 700
DVKKVNELITNSQSEISRRTILIERKQGLINFLNKQLERMVSELGGEEVGPLELEIKRLSKLIDEHDGKA    701 - 770
VQAQVTWLRLQQEMVKVTQEQEEQLASLDASKKELHIMEQKKLRVESKIEQEKKEQKEIEHHMKDLDNDL    771 - 840
KKLNMLMNKNRCSSEELEQNNRVTENEFVRSLKASERETIKMQDKLNQLSEEKATLLNQLVEAEHQIMLW    841 - 910
EKKIQLAKEMRSSVDSEIGQTEIRAMKGEIHRMKVRLGQLLKQQEKMIRAMELAVARRETVTTQAEGQRK    911 - 980
MDRKALTRTDFHHKQLELRRKIRDVRKATDECTKTVLELEETQRNVSSSLLEKQEKLSVIQADFDTLEAD    981 - 1050
LTRLGALKRQNLSEIVALQTRLKHLQAVKEGRYVFLFRSKQSLVLERQRLDKRLALIATILDRVRDEYPQ   1051 - 1120
FQEALHKVSQMIANKLESPGPS                                                   1121 - 1142
//

Text Mined References (15)

PMID Year Title
25493340 2015 Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype.
25186273 2014 Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
23402890 2013 Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element.
23382691 2013 Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
23255504 2013 Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
22693285 2012 Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.
22499950 2012 High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.
21131974 2011 The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.
20714864 2010 MCM3AP, a novel HBV integration site in hepatocellular carcinoma and its implication in hepatocarcinogenesis.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10997877 2000 Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.