Property Summary

NCBI Gene PubMed Count 13
Grant Count 1
R01 Count 1
Funding $144,087.75
PubMed Score 27.54
PubTator Score 22.22

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
osteosarcoma -1.181 0.007
posterior fossa group B ependymoma 4.300 0.000
lung adenocarcinoma -1.300 0.000
lung carcinoma -1.900 0.000
non-small cell lung carcinoma -1.300 0.000
Breast cancer -1.100 0.000
pituitary cancer -1.200 0.000
chronic rhinosinusitis -1.995 0.031

Synonym

Accession Q9UFE4 B4E2H1
Symbols FAP59
CILD14

Gene

 Grant Application (1)

 GO Component (2)

Pathway (1)

Gene RIF (5)

PMID Text
25493340 Lung disease was worse in those with IDA/CA/MTD ultrastructural defects, most of whom had biallelic mutations in ccdc39.
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.
21131972 Functional analyses indicated that CCDC39 localizes to ciliary axonemes and is essential for assembly of inner dynein arms and the dynein regulatory complex.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

AA Sequence

MSSEFLAELHWEDGFAIPVANEENKLLEDQLSKLKDERASLQDELREYEERINSMTSHFKNVKQELSITQ      1 - 70
SLCKARERETESEEHFKAIAQRELGRVKDEIQRLENEMASILEKKSDKENGIFKATQKLDGLKCQMNWDQ     71 - 140
QALEAWLEESAHKDSDALTLQKYAQQDDNKIRALTLQLERLTLECNQKRKILDNELTETISAQLELDKAA    141 - 210
QDFRKIHNERQELIKQWENTIEQMQKRDGDIDNCALELARIKQETREKENLVKEKIKFLESEIGNNTEFE    211 - 280
KRISVADRKLLKCRTAYQDHETSRIQLKGELDSLKATVNRTSSDLEALRKNISKIKKDIHEETARLQKTK    281 - 350
NHNEIIQTKLKEITEKTMSVEEKATNLEDMLKEEEKDVKEVDVQLNLIKGVLFKKAQELQTETMKEKAVL    351 - 420
SEIEGTRSSLKHLNHQLQKLDFETLKQQEIMYSQDFHIQQVERRMSRLKGEINSEEKQALEAKIVELRKS    421 - 490
LEEKKSTCGLLETQIKKLHNDLYFIKKAHSKNSDEKQSLMTKINELNLFIDRSEKELDKAKGFKQDLMIE    491 - 560
DNLLKLEVKRTREMLHSKAEEVLSLEKRKQQLYTAMEERTEEIKVHKTMLASQIRYVDQERENISTEFRE    561 - 630
RLSKIEKLKNRYEILTVVMLPPEGEEEKTQAYYVIKAAQEKEELQREGDCLDAKINKAEKEIYALENTLQ    631 - 700
VLNSCNNNYKQSFKKVTPSSDEYELKIQLEEQKRAVDEKYRYKQRQIRELQEDIQSMENTLDVIEHLANN    701 - 770
VKEKLSEKQAYSFQLSKETEEQKPKLERVTKQCAKLTKEIRLLKDTKDETMEEQDIKLREMKQFHKVIDE    771 - 840
MLVDIIEENTEIRIILQTYFQQSGLELPTASTKGSRQSSRSPSHTSLSARSSRSTSTSTSQSSIKVLELK    841 - 910
FPASSSLVGSPSRPSSASSSSSNVKSKKSSK                                           911 - 941
//

Text Mined References (16)

PMID Year Title
26387594 2015 Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.
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.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
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.
21131972 2011 CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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