| Type | Description |
|---|---|
| Definition | exocyst complex component 3 like 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-06-06 11:33:00 | We propose that biallelic EXOC3L2 mutations lead to a novel syndrome that affects hindbrain development, kidney and possibly the bone marrow. | 30327448 |
| 2017-10-14 11:47:00 | EXOC3L2 rs597668 variant is associated with Alzheimer's disease susceptibility. | 28423615 |
| 2014-05-10 11:54:00 | This meta-analysis assesses an association between rs597668 polymorphism in EXOC3L2 and Alzheimer's disease. | 23663385 |
| 2012-09-22 11:21:00 | This study suggests that the rs597668 polymorphism near EXOC3L2 may not play a major role in the susceptibility to late-onset Alzheimer's disease in the Northern Han Chinese population. | 22381399 |
| 2011-09-10 12:10:00 | exoc3l2 silencing inhibits VEGF receptor 2 phosphorylation and VEGFA-directed migration of cultured endothelial cells. | 21566143 |
| Type | IDs |
|---|---|
| Synonymous | XTP7 |
| Gene |
UniProtKB-ID:
EX3L2_HUMAN
UniprotKB:
Q2M3D2
UniParc:
UPI000013CD66
EMBL:
BC104949,
CH471126,
AF490256,
BC104947,
AK093466
Ensembl:
ENSG00000283632
KO:
hsa:90332
|
| Nucleutide sequences |
EMBL-CDS:
AAI04948.1,
BAC04175.1,
AAI04950.1,
AAO85464.1,
EAW57331.1
Ensembl_TRS:
ENST00000252482
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000252482
RefSeq:
NP_001369351.1
|
| Others |
UniRef100:
UniRef100_Q2M3D2
UniRef90:
UniRef90_Q2M3D2
UniRef50:
UniRef50_Q2M3D2
UniGene:
Hs.337557
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| Pubmed编号 | 文献信息 | 发表日期 | 相关基因 |
|---|---|---|---|
| 32694731 |
Nat Metab Michael Aregger , Keith A Lawson , Maximillian Billmann , Michael Costanzo , Amy H Y Tong , Katherine Chan , Mahfuzur Rahman , Kevin R Brown , Catherine Ross , Matej Usaj , Lucy Nedyalkova , Olga Sizova , Andrea Habsid , Judy Pawling , Zhen-Yuan Lin , Hala Abdouni , Cassandra J Wong , Alexander Weiss , Patricia Mero , James W Dennis , Anne-Claude Gingras , Chad L Myers , Brenda J Andrews , Charles Boone , Jason Moffat |
2020-06-01 | - |
| 32296183 |
A reference map of the human binary protein interactome. Nature Katja Luck , Dae-Kyum Kim , Luke Lambourne , Kerstin Spirohn , Bridget E Begg , Wenting Bian , Ruth Brignall , Tiziana Cafarelli , Francisco J Campos-Laborie , Benoit Charloteaux , Dongsic Choi , Atina G Coté , Meaghan Daley , Steven Deimling , Alice Desbuleux , Amélie Dricot , Marinella Gebbia , Madeleine F Hardy , Nishka Kishore , Jennifer J Knapp , István A Kovács , Irma Lemmens , Miles W Mee , Joseph C Mellor , Carl Pollis , Carles Pons , Aaron D Richardson , Sadie Schlabach , Bridget Teeking , Anupama Yadav , Mariana Babor , Dawit Balcha , Omer Basha , Christian Bowman-Colin , Suet-Feung Chin , Soon Gang Choi , Claudia Colabella , Georges Coppin , Cassandra D'Amata , David De Ridder , Steffi De Rouck , Miquel Duran-Frigola , Hanane Ennajdaoui , Florian Goebels , Liana Goehring , Anjali Gopal , Ghazal Haddad , Elodie Hatchi , Mohamed Helmy , Yves Jacob , Yoseph Kassa , Serena Landini , Roujia Li , Natascha van Lieshout , Andrew MacWilliams , Dylan Markey , Joseph N Paulson , Sudharshan Rangarajan , John Rasla , Ashyad Rayhan , Thomas Rolland , Adriana San-Miguel , Yun Shen , Dayag Sheykhkarimli , Gloria M Sheynkman , Eyal Simonovsky , Murat TaÅan , Alexander Tejeda , Vincent Tropepe , Jean-Claude Twizere , Yang Wang , Robert J Weatheritt , Jochen Weile , Yu Xia , Xinping Yang , Esti Yeger-Lotem , Quan Zhong , Patrick Aloy , Gary D Bader , Javier De Las Rivas , Suzanne Gaudet , Tong Hao , Janusz Rak , Jan Tavernier , David E Hill , Marc Vidal , Frederick P Roth , Michael A Calderwood |
2020-04-01 | - |
| 30327448 |
Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood. J. Med. Genet. Adel Shalata , Supanun Lauhasurayotin , Zvi Leibovitz , Hongbing Li , Diane Hebert , Santhosh Dhanraj , Yarin Hadid , Mohammed Mahroum , Jacob Bajar , Sandro Egenburg , Ayala Arad , Mordechai Shohat , Sami Haddad , Hassan Bakry , Houtan Moshiri , Stephen W Scherer , Shay Tzur , Yigal Dror |
2019-05-01 | - |
| 29656893 |
Cell Rajat Gupta , Kumar Somyajit , Takeo Narita , Elina Maskey , Andre Stanlie , Magdalena Kremer , Dimitris Typas , Michael Lammers , Niels Mailand , Andre Nussenzweig , Jiri Lukas , Chunaram Choudhary |
2018-05-03 | - |
| 28514442 |
Architecture of the human interactome defines protein communities and disease networks. Nature Edward L Huttlin , Raphael J Bruckner , Joao A Paulo , Joe R Cannon , Lily Ting , Kurt Baltier , Greg Colby , Fana Gebreab , Melanie P Gygi , Hannah Parzen , John Szpyt , Stanley Tam , Gabriela Zarraga , Laura Pontano-Vaites , Sharan Swarup , Anne E White , Devin K Schweppe , Ramin Rad , Brian K Erickson , Robert A Obar , K G Guruharsha , Kejie Li , Spyros Artavanis-Tsakonas , Steven P Gygi , J Wade Harper |
2017-05-25 | - |
| 28423615 |
EXOC3L2 rs597668 variant contributes to Alzheimer's disease susceptibility in Asian population. Oncotarget Qing-Jian Wu , Shu-Yin Sun , Cheng-Jun Yan , Zi-Cui Cheng , Ming-Feng Yang , Zi-Fei Li , Hou-Wen Cheng , Ti-Kun Fang |
2017-03-21 | - |
| 24755620 |
PLoS ONE Eduardo Pérez-Palma , Bernabé I Bustos , Camilo F Villamán , Marcelo A Alarcón , Miguel E Avila , Giorgia D Ugarte , Ariel E Reyes , Carlos Opazo , Giancarlo V De Ferrari , Alzheimer's Disease Neuroimaging Initiative , NIA-LOAD/NCRAD Family Study Group |
2014-01-01 | - |
| 23663385 |
Association between EXOC3L2 rs597668 polymorphism and Alzheimer's disease. CNS Neurosci Ther Hong Shang , Jin Fu , Xue-Mei Zhang , Rong-Rong Song , Wei-Zhi Wang |
2013-10-01 | - |
| 22381399 |
Neurosci. Lett. Qiu-Yan Liu , Dan Miao , Jin-Tai Yu , Yao-Yao Xing , Xiao-Ling Zhong , Zhong-Chen Wu , Qun Zhang , Lan Tan |
2012-04-04 |
EXOC3L2
|
| 22139419 |
New gene functions in megakaryopoiesis and platelet formation. Nature Christian Gieger , Aparna Radhakrishnan , Ana Cvejic , Weihong Tang , Eleonora Porcu , Giorgio Pistis , Jovana Serbanovic-Canic , Ulrich Elling , Alison H Goodall , Yann Labrune , Lorna M Lopez , Reedik Mägi , Stuart Meacham , Yukinori Okada , Nicola Pirastu , Rossella Sorice , Alexander Teumer , Katrin Voss , Weihua Zhang , Ramiro Ramirez-Solis , Joshua C Bis , David Ellinghaus , Martin Gögele , Jouke-Jan Hottenga , Claudia Langenberg , Peter Kovacs , Paul F O'Reilly , So-Youn Shin , Tõnu Esko , Jaana Hartiala , Stavroula Kanoni , Federico Murgia , Afshin Parsa , Jonathan Stephens , Pim van der Harst , C Ellen van der Schoot , Hooman Allayee , Antony Attwood , Beverley Balkau , François Bastardot , Saonli Basu , Sebastian E Baumeister , Ginevra Biino , Lorenzo Bomba , Amélie Bonnefond , François Cambien , John C Chambers , Francesco Cucca , Pio D'Adamo , Gail Davies , Rudolf A de Boer , Eco J C de Geus , Angela Döring , Paul Elliott , Jeanette Erdmann , David M Evans , Mario Falchi , Wei Feng , Aaron R Folsom , Ian H Frazer , Quince D Gibson , Nicole L Glazer , Chris Hammond , Anna-Liisa Hartikainen , Susan R Heckbert , Christian Hengstenberg , Micha Hersch , Thomas Illig , Ruth J F Loos , Jennifer Jolley , Kay Tee Khaw , Brigitte Kühnel , Marie-Christine Kyrtsonis , Vasiliki Lagou , Heather Lloyd-Jones , Thomas Lumley , Massimo Mangino , Andrea Maschio , Irene Mateo Leach , Barbara McKnight , Yasin Memari , Braxton D Mitchell , Grant W Montgomery , Yusuke Nakamura , Matthias Nauck , Gerjan Navis , Ute Nöthlings , Ilja M Nolte , David J Porteous , Anneli Pouta , Peter P Pramstaller , Janne Pullat , Susan M Ring , Jerome I Rotter , Daniela Ruggiero , Aimo Ruokonen , Cinzia Sala , Nilesh J Samani , Jennifer Sambrook , David Schlessinger , Stefan Schreiber , Heribert Schunkert , James Scott , Nicholas L Smith , Harold Snieder , John M Starr , Michael Stumvoll , Atsushi Takahashi , W H Wilson Tang , Kent Taylor , Albert Tenesa , Swee Lay Thein , Anke Tönjes , Manuela Uda , Sheila Ulivi , Dirk J van Veldhuisen , Peter M Visscher , Uwe Völker , H-Erich Wichmann , Kerri L Wiggins , Gonneke Willemsen , Tsun-Po Yang , Jing Hua Zhao , Paavo Zitting , John R Bradley , George V Dedoussis , Paolo Gasparini , Stanley L Hazen , Andres Metspalu , Mario Pirastu , Alan R Shuldiner , L Joost van Pelt , Jaap-Jan Zwaginga , Dorret I Boomsma , Ian J Deary , Andre Franke , Philippe Froguel , Santhi K Ganesh , Marjo-Riitta Jarvelin , Nicholas G Martin , Christa Meisinger , Bruce M Psaty , Timothy D Spector , Nicholas J Wareham , Jan-Willem N Akkerman , Marina Ciullo , Panos Deloukas , Andreas Greinacher , Steve Jupe , Naoyuki Kamatani , Jyoti Khadake , Jaspal S Kooner , Josef Penninger , Inga Prokopenko , Derek Stemple , Daniela Toniolo , Lorenz Wernisch , Serena Sanna , Andrew A Hicks , Augusto Rendon , Manuel A Ferreira , Willem H Ouwehand , Nicole Soranzo |
2011-11-30 | - |
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