Property Summary

NCBI Gene PubMed Count 12
Grant Count 1
R01 Count 1
Funding $144,087.75
PubMed Score 5.90
PubTator Score 6.38

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
malignant mesothelioma -1.500 0.000
posterior fossa group B ependymoma 2.600 0.000
osteosarcoma 1.252 0.001
lung cancer 1.200 0.001

Synonym

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

Gene

 Grant Application (1)

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.
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