Type | Description |
---|---|
Definition | C2 calcium dependent domain containing 4A |
Date | Results | Publications |
---|---|---|
2020-04-04 12:12:00 | C2CD4A is a transcriptional coregulator of the glycolytic pathway whose dysfunction accounts for the diabetes susceptibility associated with the chromosome 15 GWAS locus. | 31527256 |
2018-12-22 11:21:00 | rs7163757 contributes to genetic risk of islet dysfunction and type 2 diabetes by increasing NFAT-mediated islet enhancer activity and modulating C2CD4B, and possibly C2CD4A, expression in (patho)physiologic states. | 29625024 |
2017-06-24 10:12:00 | The present data thus provide evidence for a limited role for changes in VPS13C expression in conferring altered type 2 diabetes risk at this locus, particularly in females, and suggest that C2CD4A, but not C2CD4B, may also be involved. | 27329800 |
2017-03-22 10:11:00 | C2CD4A expression is significantly upregulated in human masticatory mucosa during wound healing | 28005267 |
2013-05-18 11:02:00 | An endoplasmic reticulum protein, NLF-1, delivers a sodium leak channel critical for rhythmic locomotion. | 23522043 |
Type | IDs |
---|---|
Synonymous | FAM148A, NLF1 |
Gene |
UniProtKB-ID:
C2C4A_HUMAN
UniprotKB:
Q8NCU7
UniParc:
UPI0000140CF2
EMBL:
AC104590,
AF504646
Ensembl:
ENSG00000198535
KO:
hsa:145741
|
Nucleutide sequences |
EMBL-CDS:
AAM28197.1
Ensembl_TRS:
ENST00000355522
|
Protein sequencees |
Ensembl_PRO:
ENSP00000347712
RefSeq:
NP_997205.2
|
Others |
UniRef100:
UniRef100_Q8NCU7
UniRef90:
UniRef90_Q8NCU7
UniRef50:
UniRef50_A6NLJ0
UniGene:
Hs.202656
CCDS:
CCDS32258.1
|
{{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 |
---|---|---|---|
31527256 |
Proc. Natl. Acad. Sci. U.S.A. Taiyi Kuo , Michael J Kraakman , Manashree Damle , Richard Gill , Mitchell A Lazar , Domenico Accili |
2019-10-01 | - |
29625024 |
Am J Hum Genet Ina Kycia , Brooke N Wolford , Jeroen R Huyghe , Christian Fuchsberger , Swarooparani Vadlamudi , Romy Kursawe , Ryan P Welch , Ricardo d'Oliveira Albanus , Asli Uyar , Shubham Khetan , Nathan Lawlor , Mohan Bolisetty , Anubhuti Mathur , Johanna Kuusisto , Markku Laakso , Duygu Ucar , Karen L Mohlke , Michael Boehnke , Francis S Collins , Stephen C J Parker , Michael L Stitzel |
2018-04-05 | - |
28005267 |
Human gingiva transcriptome during wound healing. J. Clin. Periodontol. Yun Wang , Dimitris N Tatakis |
2017-04-01 | - |
27329800 |
Am. J. Physiol. Endocrinol. Metab. Zenobia B Mehta , Nicholas Fine , Timothy J Pullen , Matthew C Cane , Ming Hu , Pauline Chabosseau , Gargi Meur , Antonio Velayos-Baeza , Anthony P Monaco , Lorella Marselli , Piero Marchetti , Guy A Rutter |
2016-08-01 | - |
24509480 |
Nat. Genet. DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium , Asian Genetic Epidemiology Network Type 2 Diabetes (AGEN-T2D) Consortium , South Asian Type 2 Diabetes (SAT2D) Consortium , Mexican American Type 2 Diabetes (MAT2D) Consortium , Type 2 Diabetes Genetic Exploration by Nex-generation sequencing in muylti-Ethnic Samples (T2D-GENES) Consortium , Anubha Mahajan , Min Jin Go , Weihua Zhang , Jennifer E Below , Kyle J Gaulton , Teresa Ferreira , Momoko Horikoshi , Andrew D Johnson , Maggie C Y Ng , Inga Prokopenko , Danish Saleheen , Xu Wang , Eleftheria Zeggini , Goncalo R Abecasis , Linda S Adair , Peter Almgren , Mustafa Atalay , Tin Aung , Damiano Baldassarre , Beverley Balkau , Yuqian Bao , Anthony H Barnett , Ines Barroso , Abdul Basit , Latonya F Been , John Beilby , Graeme I Bell , Rafn Benediktsson , Richard N Bergman , Bernhard O Boehm , Eric Boerwinkle , Lori L Bonnycastle , Noël Burtt , Qiuyin Cai , Harry Campbell , Jason Carey , Stephane Cauchi , Mark Caulfield , Juliana C N Chan , Li-Ching Chang , Tien-Jyun Chang , Yi-Cheng Chang , Guillaume Charpentier , Chien-Hsiun Chen , Han Chen , Yuan-Tsong Chen , Kee-Seng Chia , Manickam Chidambaram , Peter S Chines , Nam H Cho , Young Min Cho , Lee-Ming Chuang , Francis S Collins , Marylin C Cornelis , David J Couper , Andrew T Crenshaw , Rob M van Dam , John Danesh , Debashish Das , Ulf de Faire , George Dedoussis , Panos Deloukas , Antigone S Dimas , Christian Dina , Alex S Doney , Peter J Donnelly , Mozhgan Dorkhan , Cornelia van Duijn , Josée Dupuis , Sarah Edkins , Paul Elliott , Valur Emilsson , Raimund Erbel , Johan G Eriksson , Jorge Escobedo , Tonu Esko , Elodie Eury , Jose C Florez , Pierre Fontanillas , Nita G Forouhi , Tom Forsen , Caroline Fox , Ross M Fraser , Timothy M Frayling , Philippe Froguel , Philippe Frossard , Yutang Gao , Karl Gertow , Christian Gieger , Bruna Gigante , Harald Grallert , George B Grant , Leif C Grrop , Chrisropher J Groves , Elin Grundberg , Candace Guiducci , Anders Hamsten , Bok-Ghee Han , Kazuo Hara , Neelam Hassanali , Andrew T Hattersley , Caroline Hayward , Asa K Hedman , Christian Herder , Albert Hofman , Oddgeir L Holmen , Kees Hovingh , Astradur B Hreidarsson , Cheng Hu , Frank B Hu , Jennie Hui , Steve E Humphries , Sarah E Hunt , David J Hunter , Kristian Hveem , Zafar I Hydrie , Hiroshi Ikegami , Thomas Illig , Erik Ingelsson , Muhammed Islam , Bo Isomaa , Anne U Jackson , Tazeen Jafar , Alan James , Weiping Jia , Karl-Heinz Jöckel , Anna Jonsson , Jeremy B M Jowett , Takashi Kadowaki , Hyun Min Kang , Stavroula Kanoni , Wen Hong L Kao , Sekar Kathiresan , Norihiro Kato , Prasad Katulanda , Kirkka M Keinanen-Kiukaanniemi , Ann M Kelly , Hassan Khan , Kay-Tee Khaw , Chiea-Chuen Khor , Hyung-Lae Kim , Sangsoo Kim , Young Jin Kim , Leena Kinnunen , Norman Klopp , Augustine Kong , Eeva Korpi-Hyövälti , Sudhir Kowlessur , Peter Kraft , Jasmina Kravic , Malene M Kristensen , S Krithika , Ashish Kumar , Jesus Kumate , Johanna Kuusisto , Soo Heon Kwak , Markku Laakso , Vasiliki Lagou , Timo A Lakka , Claudia Langenberg , Cordelia Langford , Robert Lawrence , Karin Leander , Jen-Mai Lee , Nanette R Lee , Man Li , Xinzhong Li , Yun Li , Junbin Liang , Samuel Liju , Wei-Yen Lim , Lars Lind , Cecilia M Lindgren , Eero Lindholm , Ching-Ti Liu , Jian Jun Liu , Stéphane Lobbens , Jirong Long , Ruth J F Loos , Wei Lu , Jian'an Luan , Valeriya Lyssenko , Ronald C W Ma , Shiro Maeda , Reedik Mägi , Satu Männisto , David R Matthews , James B Meigs , Olle Melander , Andres Metspalu , Julia Meyer , Ghazala Mirza , Evelin Mihailov , Susanne Moebus , Viswanathan Mohan , Karen L Mohlke , Andrew D Morris , Thomas W Mühleisen , Martina Müller-Nurasyid , Bill Musk , Jiro Nakamura , Eitaro Nakashima , Pau Navarro , Peng-Keat Ng , Alexandra C Nica , Peter M Nilsson , Inger Njølstad , Markus M Nöthen , Keizo Ohnaka , Twee Hee Ong , Katharine R Owen , Colin N A Palmer , James S Pankow , Kyong Soo Park , Melissa Parkin , Sonali Pechlivanis , Nancy L Pedersen , Leena Peltonen , John R B Perry , Annette Peters , Janini M Pinidiyapathirage , Carl G Platou , Simon Potter , Jackie F Price , Lu Qi , Venkatesan Radha , Loukianos Rallidis , Asif Rasheed , Wolfgang Rathman , Rainer Rauramaa , Soumya Raychaudhuri , N William Rayner , Simon D Rees , Emil Rehnberg , Samuli Ripatti , Neil Robertson , Michael Roden , Elizabeth J Rossin , Igor Rudan , Denis Rybin , Timo E Saaristo , Veikko Salomaa , Juha Saltevo , Maria Samuel , Dharambir K Sanghera , Jouko Saramies , James Scott , Laura J Scott , Robert A Scott , Ayellet V Segrè , Joban Sehmi , Bengt Sennblad , Nabi Shah , Sonia Shah , A Samad Shera , Xiao Ou Shu , Alan R Shuldiner , Gunnar SigurÄsson , Eric Sijbrands , Angela Silveira , Xueling Sim , Suthesh Sivapalaratnam , Kerrin S Small , Wing Yee So , Alena StanÄáková , Kari Stefansson , Gerald Steinbach , Valgerdur Steinthorsdottir , Kathleen Stirrups , Rona J Strawbridge , Heather M Stringham , Qi Sun , Chen Suo , Ann-Christine Syvänen , Ryoichi Takayanagi , Fumihiko Takeuchi , Wan Ting Tay , Tanya M Teslovich , Barbara Thorand , Gudmar Thorleifsson , Unnur Thorsteinsdottir , Emmi Tikkanen , Joseph Trakalo , Elena Tremoli , Mieke D Trip , Fuu Jen Tsai , Tiinamaija Tuomi , Jaakko Tuomilehto , Andre G Uitterlinden , Adan Valladares-Salgado , Sailaja Vedantam , Fabrizio Veglia , Benjamin F Voight , Congrong Wang , Nicholas J Wareham , Roman Wennauer , Ananda R Wickremasinghe , Tom Wilsgaard , James F Wilson , Steven Wiltshire , Wendy Winckler , Tien Yin Wong , Andrew R Wood , Jer-Yuarn Wu , Ying Wu , Ken Yamamoto , Toshimasa Yamauchi , Mingyu Yang , Loic Yengo , Mitsuhiro Yokota , Robin Young , Delilah Zabaneh , Fan Zhang , Rong Zhang , Wei Zheng , Paul Z Zimmet , David Altshuler , Donald W Bowden , Yoon Shin Cho , Nancy J Cox , Miguel Cruz , Craig L Hanis , Jaspal Kooner , Jong-Young Lee , Mark Seielstad , Yik Ying Teo , Michael Boehnke , Esteban J Parra , Jonh C Chambers , E Shyong Tai , Mark I McCarthy , Andrew P Morris |
2014-03-01 | - |
23945395 |
Genome-wide association study identifies three novel loci for type 2 diabetes. Hum. Mol. Genet. Kazuo Hara , Hayato Fujita , Todd A Johnson , Toshimasa Yamauchi , Kazuki Yasuda , Momoko Horikoshi , Chen Peng , Cheng Hu , Ronald C W Ma , Minako Imamura , Minoru Iwata , Tatsuhiko Tsunoda , Takashi Morizono , Nobuhiro Shojima , Wing Yee So , Ting Fan Leung , Patrick Kwan , Rong Zhang , Jie Wang , Weihui Yu , Hiroshi Maegawa , Hiroshi Hirose , DIAGRAM consortium , Kohei Kaku , Chikako Ito , Hirotaka Watada , Yasushi Tanaka , Kazuyuki Tobe , Atsunori Kashiwagi , Ryuzo Kawamori , Weiping Jia , Juliana C N Chan , Yik Ying Teo , Tai E Shyong , Naoyuki Kamatani , Michiaki Kubo , Shiro Maeda , Takashi Kadowaki |
2014-01-01 | - |
23522043 |
Neuron Lin Xie , Shangbang Gao , Salvador M Alcaire , Kyota Aoyagi , Ying Wang , Jennifer K Griffin , Igor Stagljar , Shinya Nagamatsu , Mei Zhen |
2013-03-20 | - |
21873549 |
Diabetes Rona J Strawbridge , Josée Dupuis , Inga Prokopenko , Adam Barker , Emma Ahlqvist , Denis Rybin , John R Petrie , Mary E Travers , Nabila Bouatia-Naji , Antigone S Dimas , Alexandra Nica , Eleanor Wheeler , Han Chen , Benjamin F Voight , Jalal Taneera , Stavroula Kanoni , John F Peden , Fabiola Turrini , Stefan Gustafsson , Carina Zabena , Peter Almgren , David J P Barker , Daniel Barnes , Elaine M Dennison , Johan G Eriksson , Per Eriksson , Elodie Eury , Lasse Folkersen , Caroline S Fox , Timothy M Frayling , Anuj Goel , Harvest F Gu , Momoko Horikoshi , Bo Isomaa , Anne U Jackson , Karen A Jameson , Eero Kajantie , Julie Kerr-Conte , Teemu Kuulasmaa , Johanna Kuusisto , Ruth J F Loos , Jian'an Luan , Konstantinos Makrilakis , Alisa K Manning , MarÃa Teresa MartÃnez-Larrad , Narisu Narisu , Maria Nastase Mannila , John Ohrvik , Clive Osmond , Laura Pascoe , Felicity Payne , Avan A Sayer , Bengt Sennblad , Angela Silveira , Alena Stancáková , Kathy Stirrups , Amy J Swift , Ann-Christine Syvänen , Tiinamaija Tuomi , Ferdinand M van 't Hooft , Mark Walker , Michael N Weedon , Weijia Xie , Björn Zethelius , DIAGRAM Consortium , GIANT Consortium , MuTHER Consortium , CARDIoGRAM Consortium , C4D Consortium , Halit Ongen , Anders Mälarstig , Jemma C Hopewell , Danish Saleheen , John Chambers , Sarah Parish , John Danesh , Jaspal Kooner , Claes-Göran Ostenson , Lars Lind , Cyrus C Cooper , Manuel Serrano-RÃos , Ele Ferrannini , Tom J Forsen , Robert Clarke , Maria Grazia Franzosi , Udo Seedorf , Hugh Watkins , Philippe Froguel , Paul Johnson , Panos Deloukas , Francis S Collins , Markku Laakso , Emmanouil T Dermitzakis , Michael Boehnke , Mark I McCarthy , Nicholas J Wareham , Leif Groop , François Pattou , Anna L Gloyn , George V Dedoussis , Valeriya Lyssenko , James B Meigs , Inês Barroso , Richard M Watanabe , Erik Ingelsson , Claudia Langenberg , Anders Hamsten , Jose C Florez |
2011-10-01 | - |
21799836 |
PLoS ONE Bin Cui , Xiaolin Zhu , Min Xu , Ting Guo , Dalong Zhu , Gang Chen , Xuejun Li , Lingyan Xu , Yufang Bi , Yuhong Chen , Yu Xu , Xiaoying Li , Weiqing Wang , Haifeng Wang , Wei Huang , Guang Ning |
2011-01-01 |
C2CD4A,
KCNQ1,
C2CD4B
|
20881960 |
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature Hana Lango Allen , Karol Estrada , Guillaume Lettre , Sonja I Berndt , Michael N Weedon , Fernando Rivadeneira , Cristen J Willer , Anne U Jackson , Sailaja Vedantam , Soumya Raychaudhuri , Teresa Ferreira , Andrew R Wood , Robert J Weyant , Ayellet V Segrè , Elizabeth K Speliotes , Eleanor Wheeler , Nicole Soranzo , Ju-Hyun Park , Jian Yang , Daniel Gudbjartsson , Nancy L Heard-Costa , Joshua C Randall , Lu Qi , Albert Vernon Smith , Reedik Mägi , Tomi Pastinen , Liming Liang , Iris M Heid , Jian'an Luan , Gudmar Thorleifsson , Thomas W Winkler , Michael E Goddard , Ken Sin Lo , Cameron Palmer , Tsegaselassie Workalemahu , Yurii S Aulchenko , Asa Johansson , M Carola Zillikens , Mary F Feitosa , Tõnu Esko , Toby Johnson , Shamika Ketkar , Peter Kraft , Massimo Mangino , Inga Prokopenko , Devin Absher , Eva Albrecht , Florian Ernst , Nicole L Glazer , Caroline Hayward , Jouke-Jan Hottenga , Kevin B Jacobs , Joshua W Knowles , Zoltán Kutalik , Keri L Monda , Ozren Polasek , Michael Preuss , Nigel W Rayner , Neil R Robertson , Valgerdur Steinthorsdottir , Jonathan P Tyrer , Benjamin F Voight , Fredrik Wiklund , Jianfeng Xu , Jing Hua Zhao , Dale R Nyholt , Niina Pellikka , Markus Perola , John R B Perry , Ida Surakka , Mari-Liis Tammesoo , Elizabeth L Altmaier , Najaf Amin , Thor Aspelund , Tushar Bhangale , Gabrielle Boucher , Daniel I Chasman , Constance Chen , Lachlan Coin , Matthew N Cooper , Anna L Dixon , Quince Gibson , Elin Grundberg , Ke Hao , M Juhani Junttila , Lee M Kaplan , Johannes Kettunen , Inke R König , Tony Kwan , Robert W Lawrence , Douglas F Levinson , Mattias Lorentzon , Barbara McKnight , Andrew P Morris , Martina Müller , Julius Suh Ngwa , Shaun Purcell , Suzanne Rafelt , Rany M Salem , Erika Salvi , Serena Sanna , Jianxin Shi , Ulla Sovio , John R Thompson , Michael C Turchin , Liesbeth Vandenput , Dominique J Verlaan , Veronique Vitart , Charles C White , Andreas Ziegler , Peter Almgren , Anthony J Balmforth , Harry Campbell , Lorena Citterio , Alessandro De Grandi , Anna Dominiczak , Jubao Duan , Paul Elliott , Roberto Elosua , Johan G Eriksson , Nelson B Freimer , Eco J C Geus , Nicola Glorioso , Shen Haiqing , Anna-Liisa Hartikainen , Aki S Havulinna , Andrew A Hicks , Jennie Hui , Wilmar Igl , Thomas Illig , Antti Jula , Eero Kajantie , Tuomas O Kilpeläinen , Markku Koiranen , Ivana Kolcic , Seppo Koskinen , Peter Kovacs , Jaana Laitinen , Jianjun Liu , Marja-Liisa Lokki , Ana Marusic , Andrea Maschio , Thomas Meitinger , Antonella Mulas , Guillaume Paré , Alex N Parker , John F Peden , Astrid Petersmann , Irene Pichler , Kirsi H Pietiläinen , Anneli Pouta , Martin Ridderstråle , Jerome I Rotter , Jennifer G Sambrook , Alan R Sanders , Carsten Oliver Schmidt , Juha Sinisalo , Jan H Smit , Heather M Stringham , G Bragi Walters , Elisabeth Widen , Sarah H Wild , Gonneke Willemsen , Laura Zagato , Lina Zgaga , Paavo Zitting , Helene Alavere , Martin Farrall , Wendy L McArdle , Mari Nelis , Marjolein J Peters , Samuli Ripatti , Joyce B J van Meurs , Katja K Aben , Kristin G Ardlie , Jacques S Beckmann , John P Beilby , Richard N Bergman , Sven Bergmann , Francis S Collins , Daniele Cusi , Martin den Heijer , Gudny Eiriksdottir , Pablo V Gejman , Alistair S Hall , Anders Hamsten , Heikki V Huikuri , Carlos Iribarren , Mika Kähönen , Jaakko Kaprio , Sekar Kathiresan , Lambertus Kiemeney , Thomas Kocher , Lenore J Launer , Terho Lehtimäki , Olle Melander , Tom H Mosley , Arthur W Musk , Markku S Nieminen , Christopher J O'Donnell , Claes Ohlsson , Ben Oostra , Lyle J Palmer , Olli Raitakari , Paul M Ridker , John D Rioux , Aila Rissanen , Carlo Rivolta , Heribert Schunkert , Alan R Shuldiner , David S Siscovick , Michael Stumvoll , Anke Tönjes , Jaakko Tuomilehto , Gert-Jan van Ommen , Jorma Viikari , Andrew C Heath , Nicholas G Martin , Grant W Montgomery , Michael A Province , Manfred Kayser , Alice M Arnold , Larry D Atwood , Eric Boerwinkle , Stephen J Chanock , Panos Deloukas , Christian Gieger , Henrik Grönberg , Per Hall , Andrew T Hattersley , Christian Hengstenberg , Wolfgang Hoffman , G Mark Lathrop , Veikko Salomaa , Stefan Schreiber , Manuela Uda , Dawn Waterworth , Alan F Wright , Themistocles L Assimes , Inês Barroso , Albert Hofman , Karen L Mohlke , Dorret I Boomsma , Mark J Caulfield , L Adrienne Cupples , Jeanette Erdmann , Caroline S Fox , Vilmundur Gudnason , Ulf Gyllensten , Tamara B Harris , Richard B Hayes , Marjo-Riitta Jarvelin , Vincent Mooser , Patricia B Munroe , Willem H Ouwehand , Brenda W Penninx , Peter P Pramstaller , Thomas Quertermous , Igor Rudan , Nilesh J Samani , Timothy D Spector , Henry Völzke , Hugh Watkins , James F Wilson , Leif C Groop , Talin Haritunians , Frank B Hu , Robert C Kaplan , Andres Metspalu , Kari E North , David Schlessinger , Nicholas J Wareham , David J Hunter , Jeffrey R O'Connell , David P Strachan , H-Erich Wichmann , Ingrid B Borecki , Cornelia M van Duijn , Eric E Schadt , Unnur Thorsteinsdottir , Leena Peltonen , André G Uitterlinden , Peter M Visscher , Nilanjan Chatterjee , Ruth J F Loos , Michael Boehnke , Mark I McCarthy , Erik Ingelsson , Cecilia M Lindgren , Gonçalo R Abecasis , Kari Stefansson , Timothy M Frayling , Joel N Hirschhorn |
2010-10-14 | - |
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