CCDC39 - coiled-coil domain containing 39-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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339829 CCDC39

基因描述

Type	Description
Definition	coiled-coil domain containing 39

研究结论

Date	Results	Publications
2021-02-06 13:52:00	Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia.	31650533
2021-02-06 13:50:00	Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.	31772028
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 ccdc39.	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
2013-01-05 11:28:00	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.	22693285

名称对应

Type	IDs
Synonymous	CILD14, FAP59
Gene	UniProtKB-ID: CCD39_HUMAN UniprotKB: Q9UFE4 UniParc: UPI00015D7298, UPI0000071DC7 EMBL: AL122120, AC068298, AK304270 Ensembl: ENSG00000284862 KO: hsa:339829
Nucleutide sequences	EMBL-CDS: CAB59277.1, BAG65133.1 Ensembl_TRS: ENST00000476379
Protein sequencees	Ensembl_PRO: ENSP00000417960 RefSeq: NP_852091.1
Others	UniRef100: UniRef100_Q9UFE4 UniRef90: UniRef90_Q9UFE4 UniRef50: UniRef50_Q9UFE4 UniGene: Hs.712820, Hs.734668 CCDS: CCDS46964.1

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mRNA

Protein

UniprotKB

Description

Refseq

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Pubmed编号	文献信息	发表日期	相关基因
31772028	Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia. J Med Genet Sylvain Blanchon , Marie Legendre , Mathieu Bottier , Aline Tamalet , Guy Montantin , Nathalie Collot , Catherine Faucon , Florence Dastot , Bruno Copin , Annick Clement , Marcel Filoche , AndrÃ© Coste , Serge Amselem , Estelle Escudier , Jean-Francois Papon , Bruno Louis	2020-04-01	-
31650533	Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia. Clin Genet Mahmoud R Fassad , Walaa I Shoman , Heba Morsy , Mitali P Patel , Nesrine Radwan , Lucy Jenkins , Thomas Cullup , Eman Fouda , Hannah M Mitchison , Nader Fasseeh	2020-03-01	-
30021884	Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Mol Cell Proteomics Domenico Fasci , Hugo van Ingen , Richard A Scheltema , Albert J R Heck	2018-10-01	-
29676528	E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. FEBS J. Richa Khanna , Vidhya Krishnamoorthy , Veena K Parnaik	2018-06-01	-
27120127	Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization. Hum. Mutat. Ludovic Jeanson , Lucie Thomas , Bruno Copin , AndrÃ© Coste , Isabelle Sermet-Gaudelus , Florence Dastot-Le Moal , Philippe Duquesnoy , Guy Montantin , Nathalie Collot , Sylvie Tissier , Jean-FranÃ§ois Papon , Annick Clement , Bruno Louis , Estelle Escudier , Serge Amselem , Marie Legendre	2016-08-01	-
26387594	Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex. Am. J. Hum. Genet. Heike Olbrich , Carolin Cremers , Niki T Loges , Claudius Werner , Kim G Nielsen , June K Marthin , Maria Philipsen , Julia Wallmeier , Petra Pennekamp , Tabea Menchen , Christine Edelbusch , Gerard W Dougherty , Oliver Schwartz , Holger Thiele , Janine AltmÃ¼ller , Frank Rommelmann , Heymut Omran	2015-10-01	GAS8
25493340	Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype. Am J Respir Crit Care Med Stephanie D Davis , Thomas W Ferkol , Margaret Rosenfeld , Hye-Seung Lee , Sharon D Dell , Scott D Sagel , Carlos Milla , Maimoona A Zariwala , Jessica E Pittman , Adam J Shapiro , Johnny L Carson , Jeffrey P Krischer , Milan J Hazucha , Matthew L Cooper , Michael R Knowles , Margaret W Leigh	2015-02-01	-
25056061	Biological insights from 108 schizophrenia-associated genetic loci. Nature Schizophrenia Working Group of the Psychiatric Genomics Consortium	2014-07-24	-
24515614	DSSylation, a novel protein modification targets proteins induced by oxidative stress, and facilitates their degradation in cells. Protein Cell Yinghao Zhang , Fang-Mei Chang , Jianjun Huang , Jacob J Junco , Shivani K Maffi , Hannah I Pridgen , Gabriel Catano , Hong Dang , Xiang Ding , Fuquan Yang , Dae Joon Kim , Thomas J Slaga , Rongqiao He , Sung-Jen Wei	2014-02-01	DDX42, WDR63, RBM33, DNAH6, EEF1A1, EEF1A2, EEF1G, EEF2, FEN1, MDN1, SIN3A, NARF, SND1, RBM15B, HNRNPU, HSPA8, CCDC39, TRIM33, PCID2, PSMD3, PSMD11, ATXN2, TAF2, TOP1, TXNRD1, YY1, SHFM1, TLN2, RPF2, PIAS1, EIF3A, EIF3C, PRPF4B, CKAP5, PSMD6
23255504	Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. Hum Mutat Dinu Antony , Anita Becker-Heck , Maimoona A Zariwala , Miriam Schmidts , Alexandros Onoufriadis , Mitra Forouhan , Robert Wilson , Theresa Taylor-Cox , Ann Dewar , Claire Jackson , Patricia Goggin , Niki T Loges , Heike Olbrich , Martine Jaspers , Mark Jorissen , Margaret W Leigh , Whitney E Wolf , M Leigh Anne Daniels , Peadar G Noone , Thomas W Ferkol , Scott D Sagel , Margaret Rosenfeld , Andrew Rutman , Abhijit Dixit , Christopher O'Callaghan , Jane S Lucas , Claire Hogg , Peter J Scambler , Richard D Emes , Uk10k , Eddie M K Chung , Amelia Shoemark , Michael R Knowles , Heymut Omran , Hannah M Mitchison	2013-03-01	-

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