| Type | Description |
|---|---|
| Definition | solute carrier family 6 member 18 |
| Date | Results | Publications |
|---|---|---|
| 2015-04-11 11:54:00 | Mutations in SLC6A18 gene is associated with stress fracture. | 25023003 |
| 2011-10-08 10:15:00 | These results suggest that SLC6A18 or neighboring genes are associated with increased susceptibility to myocardial infarction. | 21420947 |
| 2010-01-21 00:00:00 | variable number of tandem repeats in SLC6A18 are not associated with hypertension. | 18554081 |
| 2009-09-20 21:32:00 | Observational study of gene-disease association. (HuGE Navigator) | 19692168 |
| 2008-06-29 21:30:00 | Observational study of gene-disease association. (HuGE Navigator) | 18554081 |
| Type | IDs |
|---|---|
| Synonymous | Xtrp2 |
| Gene |
UniProtKB-ID:
S6A18_HUMAN
UniprotKB:
Q96N87
UniParc:
UPI0000197EA2
EMBL:
AK055798,
BC056757,
AC114291
Ensembl:
ENSG00000164363
KO:
hsa:348932
|
| Nucleutide sequences |
EMBL-CDS:
AAH56757.1,
BAB71018.1
Ensembl_TRS:
ENST00000324642
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000323549
RefSeq:
NP_872438.2
|
| Others |
UniRef100:
UniRef100_Q96N87
UniRef90:
UniRef90_Q96N87
UniRef50:
UniRef50_O88576
UniGene:
Hs.213284
CCDS:
CCDS3860.1
|
| {{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 |
|---|---|---|---|
| 32487729 |
Proc Natl Acad Sci U S A Antonio Rausell , Yufei Luo , Marie Lopez , Yoann Seeleuthner , Franck Rapaport , Antoine Favier , Peter D Stenson , David N Cooper , Etienne Patin , Jean-Laurent Casanova , Lluis Quintana-Murci , Laurent Abel |
2020-06-16 | - |
| 32461654 |
The mutational constraint spectrum quantified from variation in 141,456 humans. Nature Konrad J Karczewski , Laurent C Francioli , Grace Tiao , Beryl B Cummings , Jessica Alföldi , Qingbo Wang , Ryan L Collins , Kristen M Laricchia , Andrea Ganna , Daniel P Birnbaum , Laura D Gauthier , Harrison Brand , Matthew Solomonson , Nicholas A Watts , Daniel Rhodes , Moriel Singer-Berk , Eleina M England , Eleanor G Seaby , Jack A Kosmicki , Raymond K Walters , Katherine Tashman , Yossi Farjoun , Eric Banks , Timothy Poterba , Arcturus Wang , Cotton Seed , Nicola Whiffin , Jessica X Chong , Kaitlin E Samocha , Emma Pierce-Hoffman , Zachary Zappala , Anne H O'Donnell-Luria , Eric Vallabh Minikel , Ben Weisburd , Monkol Lek , James S Ware , Christopher Vittal , Irina M Armean , Louis Bergelson , Kristian Cibulskis , Kristen M Connolly , Miguel Covarrubias , Stacey Donnelly , Steven Ferriera , Stacey Gabriel , Jeff Gentry , Namrata Gupta , Thibault Jeandet , Diane Kaplan , Christopher Llanwarne , Ruchi Munshi , Sam Novod , Nikelle Petrillo , David Roazen , Valentin Ruano-Rubio , Andrea Saltzman , Molly Schleicher , Jose Soto , Kathleen Tibbetts , Charlotte Tolonen , Gordon Wade , Michael E Talkowski , Genome Aggregation Database Consortium , Benjamin M Neale , Mark J Daly , Daniel G MacArthur |
2020-05-01 | - |
| 28406212 |
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. Nature Danish Saleheen , Pradeep Natarajan , Irina M Armean , Wei Zhao , Asif Rasheed , Sumeet A Khetarpal , Hong-Hee Won , Konrad J Karczewski , Anne H O'Donnell-Luria , Kaitlin E Samocha , Benjamin Weisburd , Namrata Gupta , Mozzam Zaidi , Maria Samuel , Atif Imran , Shahid Abbas , Faisal Majeed , Madiha Ishaq , Saba Akhtar , Kevin Trindade , Megan Mucksavage , Nadeem Qamar , Khan Shah Zaman , Zia Yaqoob , Tahir Saghir , Syed Nadeem Hasan Rizvi , Anis Memon , Nadeem Hayyat Mallick , Mohammad Ishaq , Syed Zahed Rasheed , Fazal-Ur-Rehman Memon , Khalid Mahmood , Naveeduddin Ahmed , Ron Do , Ronald M Krauss , Daniel G MacArthur , Stacey Gabriel , Eric S Lander , Mark J Daly , Philippe Frossard , John Danesh , Daniel J Rader , Sekar Kathiresan |
2017-04-12 | - |
| 26240152 |
J Biol Chem Stephen J Fairweather , Angelika Bröer , Nandhitha Subramanian , Emrah Tumer , Qi Cheng , Dieter Schmoll , Megan L O'Mara , Stefan Bröer |
2015-10-02 | - |
| 25807282 |
Identification of a large set of rare complete human knockouts. Nat. Genet. Patrick Sulem , Hannes Helgason , Asmundur Oddson , Hreinn Stefansson , Sigurjon A Gudjonsson , Florian Zink , Eirikur Hjartarson , Gunnar Th Sigurdsson , Adalbjorg Jonasdottir , Aslaug Jonasdottir , Asgeir Sigurdsson , Olafur Th Magnusson , Augustine Kong , Agnar Helgason , Hilma Holm , Unnur Thorsteinsdottir , Gisli Masson , Daniel F Gudbjartsson , Kari Stefansson |
2015-05-01 | - |
| 25086665 |
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. Nat Genet Brian M Wolpin , Cosmeri Rizzato , Peter Kraft , Charles Kooperberg , Gloria M Petersen , Zhaoming Wang , Alan A Arslan , Laura Beane-Freeman , Paige M Bracci , Julie Buring , Federico Canzian , Eric J Duell , Steven Gallinger , Graham G Giles , Gary E Goodman , Phyllis J Goodman , Eric J Jacobs , Aruna Kamineni , Alison P Klein , Laurence N Kolonel , Matthew H Kulke , Donghui Li , Núria Malats , Sara H Olson , Harvey A Risch , Howard D Sesso , Kala Visvanathan , Emily White , Wei Zheng , Christian C Abnet , Demetrius Albanes , Gabriella Andreotti , Melissa A Austin , Richard Barfield , Daniela Basso , Sonja I Berndt , Marie-Christine Boutron-Ruault , Michelle Brotzman , Markus W Büchler , H Bas Bueno-de-Mesquita , Peter Bugert , Laurie Burdette , Daniele Campa , Neil E Caporaso , Gabriele Capurso , Charles Chung , Michelle Cotterchio , Eithne Costello , Joanne Elena , Niccola Funel , J Michael Gaziano , Nathalia A Giese , Edward L Giovannucci , Michael Goggins , Megan J Gorman , Myron Gross , Christopher A Haiman , Manal Hassan , Kathy J Helzlsouer , Brian E Henderson , Elizabeth A Holly , Nan Hu , David J Hunter , Federico Innocenti , Mazda Jenab , Rudolf Kaaks , Timothy J Key , Kay-Tee Khaw , Eric A Klein , Manolis Kogevinas , Vittorio Krogh , Juozas Kupcinskas , Robert C Kurtz , Andrea LaCroix , Maria T Landi , Stefano Landi , Loic Le Marchand , Andrea Mambrini , Satu Mannisto , Roger L Milne , Yusuke Nakamura , Ann L Oberg , Kouros Owzar , Alpa V Patel , Petra H M Peeters , Ulrike Peters , Raffaele Pezzilli , Ada Piepoli , Miquel Porta , Francisco X Real , Elio Riboli , Nathaniel Rothman , Aldo Scarpa , Xiao-Ou Shu , Debra T Silverman , Pavel Soucek , Malin Sund , Renata Talar-Wojnarowska , Philip R Taylor , George E Theodoropoulos , Mark Thornquist , Anne Tjønneland , Geoffrey S Tobias , Dimitrios Trichopoulos , Pavel Vodicka , Jean Wactawski-Wende , Nicolas Wentzensen , Chen Wu , Herbert Yu , Kai Yu , Anne Zeleniuch-Jacquotte , Robert Hoover , Patricia Hartge , Charles Fuchs , Stephen J Chanock , Rachael S Stolzenberg-Solomon , Laufey T Amundadottir |
2014-09-01 | - |
| 25023003 |
Genet Res (Camb) Eitan Friedman , Daniel S Moran , Danny Ben-Avraham , Ran Yanovich , Gil Atzmon |
2014-01-01 | - |
| 22344438 |
A systematic survey of loss-of-function variants in human protein-coding genes. Science Daniel G MacArthur , Suganthi Balasubramanian , Adam Frankish , Ni Huang , James Morris , Klaudia Walter , Luke Jostins , Lukas Habegger , Joseph K Pickrell , Stephen B Montgomery , Cornelis A Albers , Zhengdong D Zhang , Donald F Conrad , Gerton Lunter , Hancheng Zheng , Qasim Ayub , Mark A DePristo , Eric Banks , Min Hu , Robert E Handsaker , Jeffrey A Rosenfeld , Menachem Fromer , Mike Jin , Xinmeng Jasmine Mu , Ekta Khurana , Kai Ye , Mike Kay , Gary Ian Saunders , Marie-Marthe Suner , Toby Hunt , If H A Barnes , Clara Amid , Denise R Carvalho-Silva , Alexandra H Bignell , Catherine Snow , Bryndis Yngvadottir , Suzannah Bumpstead , David N Cooper , Yali Xue , Irene Gallego Romero , 1000 Genomes Project Consortium , Jun Wang , Yingrui Li , Richard A Gibbs , Steven A McCarroll , Emmanouil T Dermitzakis , Jonathan K Pritchard , Jeffrey C Barrett , Jennifer Harrow , Matthew E Hurles , Mark B Gerstein , Chris Tyler-Smith |
2012-02-17 | - |
| 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 | - |
| 21420947 |
Association study: SLC6A18 gene and myocardial infarction. Clin. Biochem. Ken Matsumoto , Masanori Shimodaira , Tomoko Nakagawa , Tomohiro Nakayama , Tatsuo Nakazato , Yoichi Izumi , Masayoshi Soma , Koichi Matsumoto , Naoyuki Sato , Noriko Aoi |
2011-07-01 |
SLC6A18
|
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|---|---|---|
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