| Type | Description |
|---|---|
| Definition | cilia and flagella associated protein 410 |
| Date | Results | Publications |
|---|---|---|
| 2017-12-02 10:08:00 | Identification of a homozygous C21orf2 mutation in this case emphasizes the value of exome sequencing for simultaneously screening known genes and identifying novel genes.the severity of thoracic restriction in this case adds to the phenotypic spectrum attributable to C21orf2 mutations. | 28422394 |
| 2017-09-09 11:07:00 | Mutation in C21ORF2 gene is associated with amyotrophic lateral sclerosis. | 27455348 |
| 2017-05-27 11:59:00 | reduced levels of functional C21orf2 induced photoreceptor degradation through abnormal cilia formation, leading to arRP or arCRD in the retina. | 27548899 |
| 2016-08-06 10:40:00 | Analysis of patients without C21orf2 mutation indicated genetic heterogeneity of axial SMD. Functional data in chondrocyte suggest C21orf2 is implicated in cartilage differentiation | 26974433 |
| 2016-07-02 10:58:00 | C21ORF2 functions in the same pathway as NEK1 in DNA damage repair. | 26290490 |
| Type | IDs |
|---|---|
| Synonymous | C21orf2, LRRC76, RDMS, SMDAX, YF5/A2 |
| Gene |
UniProtKB-ID:
CF410_HUMAN
UniprotKB:
O43822
UniParc:
UPI000012867B,
UPI000002A780,
UPI00000738DF,
UPI0000206F95
EMBL:
U84569,
U84570,
AP001062,
Z93322,
AP001754,
BC072012,
CH471079,
Y11392,
BC031300
Ensembl:
ENSG00000160226
KO:
hsa:755
|
| Nucleutide sequences |
EMBL-CDS:
AAH72012.1,
AAB46590.1,
EAX09434.1,
AAB46591.1,
EAX09432.1,
CAA72202.1,
AAH31300.1,
CAB07532.1,
BAA95562.1
Ensembl_TRS:
ENST00000397956,
ENST00000325223,
ENST00000339818
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000381047,
ENSP00000344566,
ENSP00000317302
RefSeq:
XP_006724114.1,
NP_001258369.1,
NP_004919.1,
XP_016883959.1,
XP_016883960.1,
XP_006724116.1,
NP_001258370.1,
XP_016883961.1,
NP_001258371.1
|
| Others |
UniRef100:
UniRef100_O43822
UniRef90:
UniRef90_O43822
UniRef50:
UniRef50_O43822
UniGene:
Hs.517331
CCDS:
CCDS13709.1,
CCDS59444.1,
CCDS59445.1
|
| {{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 |
|---|---|---|---|
| 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 | - |
| 28422394 |
Am J Med Genet A Aideen M McInerney-Leo , Lawrie Wheeler , Mhairi S Marshall , Lisa K Anderson , Andreas Zankl , Matthew A Brown , Paul J Leo , Carol Wicking , Emma L Duncan |
2017-06-01 | - |
| 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 | - |
| 27455348 |
Nat Genet Wouter van Rheenen , Aleksey Shatunov , Annelot M Dekker , Russell L McLaughlin , Frank P Diekstra , Sara L Pulit , Rick A A van der Spek , Urmo Võsa , Simone de Jong , Matthew R Robinson , Jian Yang , Isabella Fogh , Perry Tc van Doormaal , Gijs H P Tazelaar , Max Koppers , Anna M Blokhuis , William Sproviero , Ashley R Jones , Kevin P Kenna , Kristel R van Eijk , Oliver Harschnitz , Raymond D Schellevis , William J Brands , Jelena Medic , Androniki Menelaou , Alice Vajda , Nicola Ticozzi , Kuang Lin , Boris Rogelj , Katarina Vrabec , Metka Ravnik-GlavaÄ , Blaž Koritnik , Janez Zidar , Lea Leonardis , Leja Dolenc GroÅ¡elj , Stéphanie Millecamps , François Salachas , Vincent Meininger , Mamede de Carvalho , Susana Pinto , Jesus S Mora , Ricardo Rojas-GarcÃa , Meraida Polak , Siddharthan Chandran , Shuna Colville , Robert Swingler , Karen E Morrison , Pamela J Shaw , John Hardy , Richard W Orrell , Alan Pittman , Katie Sidle , Pietro Fratta , Andrea Malaspina , Simon Topp , Susanne Petri , Susanne Abdulla , Carsten Drepper , Michael Sendtner , Thomas Meyer , Roel A Ophoff , Kim A Staats , Martina Wiedau-Pazos , Catherine Lomen-Hoerth , Vivianna M Van Deerlin , John Q Trojanowski , Lauren Elman , Leo McCluskey , A Nazli Basak , Ceren Tunca , Hamid Hamzeiy , Yesim Parman , Thomas Meitinger , Peter Lichtner , Milena Radivojkov-Blagojevic , Christian R Andres , Cindy Maurel , Gilbert Bensimon , Bernhard Landwehrmeyer , Alexis Brice , Christine A M Payan , Safaa Saker-Delye , Alexandra Dürr , Nicholas W Wood , Lukas Tittmann , Wolfgang Lieb , Andre Franke , Marcella Rietschel , Sven Cichon , Markus M Nöthen , Philippe Amouyel , Christophe Tzourio , Jean-François Dartigues , Andre G Uitterlinden , Fernando Rivadeneira , Karol Estrada , Albert Hofman , Charles Curtis , Hylke M Blauw , Anneke J van der Kooi , Marianne de Visser , An Goris , Markus Weber , Christopher E Shaw , Bradley N Smith , Orietta Pansarasa , Cristina Cereda , Roberto Del Bo , Giacomo P Comi , Sandra D'Alfonso , Cinzia Bertolin , Gianni Sorarù , Letizia Mazzini , Viviana Pensato , Cinzia Gellera , Cinzia Tiloca , Antonia Ratti , Andrea Calvo , Cristina Moglia , Maura Brunetti , Simona Arcuti , Rosa Capozzo , Chiara Zecca , Christian Lunetta , Silvana Penco , Nilo Riva , Alessandro Padovani , Massimiliano Filosto , Bernard Muller , Robbert Jan Stuit , PARALS Registry , SLALOM Group , SLAP Registry , FALS Sequencing Consortium , SLAGEN Consortium , NNIPPS Study Group , Ian Blair , Katharine Zhang , Emily P McCann , Jennifer A Fifita , Garth A Nicholson , Dominic B Rowe , Roger Pamphlett , Matthew C Kiernan , Julian Grosskreutz , Otto W Witte , Thomas Ringer , Tino Prell , Beatrice Stubendorff , Ingo Kurth , Christian A Hübner , P Nigel Leigh , Federico Casale , Adriano Chio , Ettore Beghi , Elisabetta Pupillo , Rosanna Tortelli , Giancarlo Logroscino , John Powell , Albert C Ludolph , Jochen H Weishaupt , Wim Robberecht , Philip Van Damme , Lude Franke , Tune H Pers , Robert H Brown , Jonathan D Glass , John E Landers , Orla Hardiman , Peter M Andersen , Philippe Corcia , Patrick Vourc'h , Vincenzo Silani , Naomi R Wray , Peter M Visscher , Paul I W de Bakker , Michael A van Es , R Jeroen Pasterkamp , Cathryn M Lewis , Gerome Breen , Ammar Al-Chalabi , Leonard H van den Berg , Jan H Veldink |
2016-09-01 | - |
| 27548899 |
Invest. Ophthalmol. Vis. Sci. Akiko Suga , Atsushi Mizota , Mitsuhiro Kato , Kazuki Kuniyoshi , Kazutoshi Yoshitake , William Sultan , Masashi Yamazaki , Yoshikazu Shimomura , Kazuho Ikeo , Kazushige Tsunoda , Takeshi Iwata |
2016-08-01 | - |
| 27173435 |
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Nat Commun Karsten Boldt , Jeroen van Reeuwijk , Qianhao Lu , Konstantinos Koutroumpas , Thanh-Minh T Nguyen , Yves Texier , Sylvia E C van Beersum , Nicola Horn , Jason R Willer , Dorus A Mans , Gerard Dougherty , Ideke J C Lamers , Karlien L M Coene , Heleen H Arts , Matthew J Betts , Tina Beyer , Emine Bolat , Christian Johannes Gloeckner , Khatera Haidari , Lisette Hetterschijt , Daniela Iaconis , Dagan Jenkins , Franziska Klose , Barbara Knapp , Brooke Latour , Stef J F Letteboer , Carlo L Marcelis , Dragana Mitic , Manuela Morleo , Machteld M Oud , Moniek Riemersma , Susan Rix , Paulien A Terhal , Grischa Toedt , Teunis J P van Dam , Erik de Vrieze , Yasmin Wissinger , Ka Man Wu , Gordana Apic , Philip L Beales , Oliver E Blacque , Toby J Gibson , Martijn A Huynen , Nicholas Katsanis , Hannie Kremer , Heymut Omran , Erwin van Wijk , Uwe Wolfrum , François Kepes , Erica E Davis , Brunella Franco , Rachel H Giles , Marius Ueffing , Robert B Russell , Ronald Roepman , UK10K Rare Diseases Group |
2016-05-13 | - |
| 26972000 |
Substrate-Trapped Interactors of PHD3 and FIH Cluster in Distinct Signaling Pathways. Cell Rep Javier Rodriguez , Ruth Pilkington , Amaya Garcia Munoz , Lan K Nguyen , Nora Rauch , Susan Kennedy , Naser Monsefi , Ana Herrero , Cormac T Taylor , Alex von Kriegsheim |
2016-03-22 | - |
| 26974433 |
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. PLoS One Zheng Wang , Aritoshi Iida , Noriko Miyake , Koji M Nishiguchi , Kosuke Fujita , Toru Nakazawa , Abdulrahman Alswaid , Mohammed A Albalwi , Ok-Hwa Kim , Tae-Joon Cho , Gye-Yeon Lim , Bertrand Isidor , Albert David , Cecilie F Rustad , Else Merckoll , Jostein Westvik , Eva-Lena Stattin , Giedre Grigelioniene , Ikuyo Kou , Masahiro Nakajima , Hirohumi Ohashi , Sarah Smithson , Naomichi Matsumoto , Gen Nishimura , Shiro Ikegawa |
2016-01-01 | - |
| 26638075 |
A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. Cell Gagan D Gupta , Ãtienne Coyaud , João Gonçalves , Bahareh A Mojarad , Yi Liu , Qianzhu Wu , Ladan Gheiratmand , David Comartin , Johnny M Tkach , Sally W T Cheung , Mikhail Bashkurov , Monica Hasegan , James D Knight , Zhen-Yuan Lin , Markus Schueler , Friedhelm Hildebrandt , Jason Moffat , Anne-Claude Gingras , Brian Raught , Laurence Pelletier |
2015-12-03 |
TANK,
SRA1,
LOC100129118,
TROAP,
PIGK,
WASH1,
DNAJB6,
LOC100506055,
TMEM35B,
OCLN,
LOC100507703,
ERVK3-1,
RBM14-RBM4,
COMMD3-BMI1,
UBA2,
SAE1,
ABCC5,
TIMM23B,
SCAMP2,
SCAMP3,
ARPC3,
ACTR3,
ACTR2,
NUBP2,
TSFM,
RAD50,
KIF20A,
PREB,
ACTR1B,
ACTR1A,
PDIA6,
BCAP31,
SUGP2,
CEBPZ,
ATP6AP2,
LPCAT3,
WASF2,
CDK2,
TENM1,
TXNDC9,
CDK4,
ALG3,
PRMT3,
PSME3,
MPHOSPH9,
CDK5,
TRIM13,
FLOT1,
PSMD14,
MFSD10,
STX6,
DCAF7,
STAM2,
ZMPSTE24,
STUB1,
SIGMAR1,
BET1,
DNAJA2,
PAK4,
KATNB1,
RTN3,
TNIP1,
EMC8,
CNPY2,
TFG,
TUBA1B,
TUBB4A,
TUBB4B,
NDRG1,
NDC80,
NSA2,
PGRMC2,
TUBGCP3,
SEC24B,
EMG1,
MCRS1,
TAB1,
BAIAP2,
PIBF1,
PPIH,
ZNHIT1,
PFDN6,
CLGN,
SLC25A17,
NXF1,
SEC23B,
SEC23A,
VAT1,
NCOA2,
HYOU1,
IPO8,
IPO7,
NEBL,
DCTN2,
PRDX4,
ARL6IP5,
AGPAT1,
RPP38,
CCT7
|
| 26294103 |
Br J Ophthalmol Arif O Khan , Tobias Eisenberger , Kerstin Nagel-Wolfrum , Uwe Wolfrum , Hanno J Bolz |
2015-12-01 | - |
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员