tmem67 - transmembrane protein 67-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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572194 tmem67

基因描述

Type	Description
Definition	transmembrane protein 67

研究结论

Date	Results	Publications
2013-11-02 11:33:00	The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.	23393159

名称对应

Type	IDs
Gene	UniProtKB-ID: E9QB24_DANRE UniprotKB: E9QB24 UniParc: UPI000056B5C9 EMBL: BX649484 Ensembl: ENSDARG00000076752
Nucleutide sequences	Ensembl_TRS: ENSDART00000140460
Protein sequencees	Ensembl_PRO: ENSDARP00000116688 RefSeq: XP_009290650.1, XP_009290648.1, XP_700974.4
Others	UniRef100: UniRef100_E9QB24 UniRef90: UniRef90_E9QB24 UniRef50: UniRef50_E9QB24 UniGene: Dr.60653, Dr.155920

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mRNA

Protein

UniprotKB

Description

Refseq

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Ensembl: {{protein.nucleotideEnsembl}}

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Ensembl: {{protein.proteinEnsembl}}

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Location

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全选

Pubmed编号	文献信息	发表日期	相关基因
28860541	Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome. Sci Rep So-Hyun Lee , Tai-Seung Nam , Wenting Li , Jung Ha Kim , Woong Yoon , Yoo-Duk Choi , Kun-Hee Kim , Hua Cai , Min Jung Kim , Changsoo Kim , Hyon E Choy , Nacksung Kim , Kee Oh Chay , Myeong-Kyu Kim , Seok-Yong Choi	2017-08-31	-
28487520	An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations. Sci Rep C Stayner , C A Poole , S R McGlashan , M Pilanthananond , R Brauning , D Markie , B Lett , L Slobbe , A Chae , A C Johnstone , C G Jensen , J C McEwan , K Dittmer , K Parker , A Wiles , W Blackburne , A Leichter , M Leask , A Pinnapureddy , M Jennings , J A Horsfield , R J Walker , M R Eccles	2017-05-09	-
27189481	Gene evolution and gene expression after whole genome duplication in fish: the PhyloFish database. BMC Genomics Jeremy Pasquier , CÃ©dric Cabau , Thaovi Nguyen , Elodie Jouanno , Dany Severac , Ingo Braasch , Laurent Journot , Pierre Pontarotti , Christophe Klopp , John H Postlethwait , Yann Guiguen , Julien Bobe	2016-05-18	-
26469318	RFX transcription factors are essential for hearing in mice. Nat Commun Ran Elkon , Beatrice Milon , Laura Morrison , Manan Shah , Sarath Vijayakumar , Manoj Racherla , Carmen C Leitch , Lorna Silipino , Shadan Hadi , MichÃ¨le Weiss-Gayet , EmmanuÃ¨le Barras , Christoph D Schmid , Aouatef Ait-Lounis , Ashley Barnes , Yang Song , David J Eisenman , Efrat Eliyahu , Gregory I Frolenkov , Scott E Strome , BÃ©nÃ©dicte Durand , Norann A Zaghloul , Sherri M Jones , Walter Reith , Ronna Hertzano	2015-10-15	-
26191240	A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. Int J Clin Exp Pathol Manli Zhang , Jing Cheng , Aijun Liu , Longxia Wang , Lihua Xiong , Meixia Chen , Yi Sun , Jianzhong Li , Yu Lu , Huijun Yuan , Yali Li , Yanping Lu	2015-01-01	tmem67
23393159	The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. Hum. Mol. Genet. Amanda C Leightner , Cynthia J Hommerding , Ying Peng , Jeffrey L Salisbury , Vladimir G Gainullin , Peter G Czarnecki , Caroline R Sussman , Peter C Harris	2013-05-15	Tmem67, egr2b, myod1, tmem67, TMEM67
22121117	A meckelin-filamin A interaction mediates ciliogenesis. Hum. Mol. Genet. Matthew Adams , Roslyn J Simms , Zakia Abdelhamed , Helen R Dawe , Katarzyna Szymanska , Clare V Logan , Gabrielle Wheway , Eva Pitt , Keith Gull , Margaret A Knowles , Edward Blair , Sally H Cross , John A Sayer , Colin A Johnson	2012-03-15	-
22152675	TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. Am. J. Hum. Genet. Lijia Huang , Katarzyna Szymanska , Victor L Jensen , Andreas R Janecke , A Micheil Innes , Erica E Davis , Patrick Frosk , Chunmei Li , Jason R Willer , Bernard N Chodirker , Cheryl R Greenberg , D Ross McLeod , Francois P Bernier , Albert E Chudley , Thomas MÃ¼ller , Mohammad Shboul , Clare V Logan , Catrina M Loucks , Chandree L Beaulieu , Rachel V Bowie , Sandra M Bell , Jonathan Adkins , Freddi I Zuniga , Kevin D Ross , Jian Wang , Matthew R Ban , Christian Becker , Peter NÃ¼rnberg , Stuart Douglas , Cheryl M Craft , Marie-Andree Akimenko , Robert A Hegele , Carole Ober , Gerd Utermann , Hanno J Bolz , Dennis E Bulman , Nicholas Katsanis , Oliver E Blacque , Dan Doherty , Jillian S Parboosingh , Michel R Leroux , Colin A Johnson , Kym M Boycott	2011-12-09	-
21873635	Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics Pascale Gaudet , Michael S Livstone , Suzanna E Lewis , Paul D Thomas	2011-09-01	-
20512146	Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet Enza Maria Valente , Clare V Logan , Soumaya Mougou-Zerelli , Jeong Ho Lee , Jennifer L Silhavy , Francesco Brancati , Miriam Iannicelli , Lorena Travaglini , Sveva Romani , Barbara Illi , Matthew Adams , Katarzyna Szymanska , Annalisa Mazzotta , Ji Eun Lee , Jerlyn C Tolentino , Dominika Swistun , Carmelo D Salpietro , Carmelo Fede , Stacey Gabriel , Carsten Russ , Kristian Cibulskis , Carrie Sougnez , Friedhelm Hildebrandt , Edgar A Otto , Susanne Held , Bill H Diplas , Erica E Davis , Mario Mikula , Charles M Strom , Bruria Ben-Zeev , Dorit Lev , Tally Lerman Sagie , Marina Michelson , Yuval Yaron , Amanda Krause , Eugen Boltshauser , Nadia Elkhartoufi , Joelle Roume , Stavit Shalev , Arnold Munnich , Sophie Saunier , Chris Inglehearn , Ali Saad , Adila Alkindy , Sophie Thomas , Michel Vekemans , Bruno Dallapiccola , Nicholas Katsanis , Colin A Johnson , Tania AttiÃ©-Bitach , Joseph G Gleeson	2010-07-01	-

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