| Type | Description |
|---|---|
| Definition | mab-21 like 2 |
| Date | Results | Publications |
|---|---|---|
| 2017-11-26 01:38:00 | mab21 gene family members, mab21l1 and mab21l2, play important roles in regulating eye development. [review] | 27558071 |
| 2016-04-30 11:30:00 | The two unrelated individuals with a novel oculo-skeletal syndrome with intellectual disability described are heterozygous carriers of the same de novo missense mutation c.151C > T (p.Arg51Cys) in MAB21L2. | 26116559 |
| 2015-07-25 11:30:00 | These findings support the identification of MAB21L2 as a novel factor involved in human coloboma and highlight the power of genome editing manipulation in model organisms for analysis of the effects of whole exome variation in humans. | 25719200 |
| 2014-08-09 10:27:00 | This report provides compelling human genomic and genetic evidence that mutations in MAB21L2 cause major eye malformations. | 24906020 |
| Type | IDs |
|---|---|
| Synonymous | MCOPS14, MCSKS14 |
| Gene |
UniProtKB-ID:
MB212_HUMAN
UniprotKB:
Q9Y586
UniParc:
UPI000007290D
EMBL:
BC009983,
AF155219,
AF370007,
AK055665,
AF262032
Ensembl:
ENSG00000181541
KO:
hsa:10586
|
| Nucleutide sequences |
EMBL-CDS:
AAH09983.1,
BAG51549.1,
AAG09800.1,
AAK54206.1,
AAD40248.1
Ensembl_TRS:
ENST00000317605
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000324701
RefSeq:
NP_006430.1
|
| Others |
UniRef100:
UniRef100_Q9Y586
UniRef90:
UniRef90_Q9Y586
UniRef50:
UniRef50_Q9Y586
UniGene:
Hs.584852
CCDS:
CCDS3774.1
|
| {{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 | - |
| 30833792 |
Nat. Immunol. Philipp Hubel , Christian Urban , Valter Bergant , William M Schneider , Barbara Knauer , Alexey Stukalov , Pietro Scaturro , Angelika Mann , Linda Brunotte , Heinrich H Hoffmann , John W Schoggins , Martin Schwemmle , Matthias Mann , Charles M Rice , Andreas Pichlmair |
2019-04-01 | - |
| 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 | - |
| 27558071 |
The Male Abnormal Gene Family 21 (Mab21) Members Regulate Eye Development. Curr. Mol. Med. Z-X Huang , J-W Xiang , L Zhou , Q Nie , L Wang , Z-G Chen , X-H Hu , Y Xiao , W-J Qing , Y-F Liu , Q Sun , X-C Tang , F-Y Liu , Z-W Luo , W-B Liu , D W-C Li |
2016-01-01 | - |
| 26116559 |
Eur J Med Genet Denise Horn , Trine Prescott , Gunnar Houge , Kristin Brække , Karen Rosendahl , Gen Nishimura , David R FitzPatrick , Jürgen Spranger |
2015-08-01 | - |
| 26186194 |
The BioPlex Network: A Systematic Exploration of the Human Interactome. Cell Edward L Huttlin , Lily Ting , Raphael J Bruckner , Fana Gebreab , Melanie P Gygi , John Szpyt , Stanley Tam , Gabriela Zarraga , Greg Colby , Kurt Baltier , Rui Dong , Virginia Guarani , Laura Pontano Vaites , Alban Ordureau , Ramin Rad , Brian K Erickson , Martin Wühr , Joel Chick , Bo Zhai , Deepak Kolippakkam , Julian Mintseris , Robert A Obar , Tim Harris , Spyros Artavanis-Tsakonas , Mathew E Sowa , Pietro De Camilli , Joao A Paulo , J Wade Harper , Steven P Gygi |
2015-07-16 | - |
| 25719200 |
Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts. PLoS Genet Brett Deml , Ariana Kariminejad , Razieh H R Borujerdi , Sanaa Muheisen , Linda M Reis , Elena V Semina |
2015-01-01 | - |
| 25416956 |
A proteome-scale map of the human interactome network. Cell Thomas Rolland , Murat TaÅan , Benoit Charloteaux , Samuel J Pevzner , Quan Zhong , Nidhi Sahni , Song Yi , Irma Lemmens , Celia Fontanillo , Roberto Mosca , Atanas Kamburov , Susan D Ghiassian , Xinping Yang , Lila Ghamsari , Dawit Balcha , Bridget E Begg , Pascal Braun , Marc Brehme , Martin P Broly , Anne-Ruxandra Carvunis , Dan Convery-Zupan , Roser Corominas , Jasmin Coulombe-Huntington , Elizabeth Dann , Matija Dreze , Amélie Dricot , Changyu Fan , Eric Franzosa , Fana Gebreab , Bryan J Gutierrez , Madeleine F Hardy , Mike Jin , Shuli Kang , Ruth Kiros , Guan Ning Lin , Katja Luck , Andrew MacWilliams , Jörg Menche , Ryan R Murray , Alexandre Palagi , Matthew M Poulin , Xavier Rambout , John Rasla , Patrick Reichert , Viviana Romero , Elien Ruyssinck , Julie M Sahalie , Annemarie Scholz , Akash A Shah , Amitabh Sharma , Yun Shen , Kerstin Spirohn , Stanley Tam , Alexander O Tejeda , Shelly A Trigg , Jean-Claude Twizere , Kerwin Vega , Jennifer Walsh , Michael E Cusick , Yu Xia , Albert-László Barabási , Lilia M Iakoucheva , Patrick Aloy , Javier De Las Rivas , Jan Tavernier , Michael A Calderwood , David E Hill , Tong Hao , Frederick P Roth , Marc Vidal |
2014-11-20 | - |
| 24906020 |
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet Joe Rainger , Davut Pehlivan , Stefan Johansson , Hemant Bengani , Luis Sanchez-Pulido , Kathleen A Williamson , Mehmet Ture , Heather Barker , Karen Rosendahl , Jürgen Spranger , Denise Horn , Alison Meynert , James A B Floyd , Trine Prescott , Carl A Anderson , Jacqueline K Rainger , Ender Karaca , Claudia Gonzaga-Jauregui , Shalini Jhangiani , Donna M Muzny , Anne Seawright , Dinesh C Soares , Mira Kharbanda , Victoria Murday , Andrew Finch , UK10K , Baylor-Hopkins Center for Mendelian Genomics , Richard A Gibbs , Veronica van Heyningen , Martin S Taylor , Tahsin Yakut , Per M Knappskog , Matthew E Hurles , Chris P Ponting , James R Lupski , Gunnar Houge , David R FitzPatrick |
2014-06-05 | - |
| 23602568 |
The protein interaction landscape of the human CMGC kinase group. Cell Rep Markku Varjosalo , Salla Keskitalo , Audrey Van Drogen , Helka Nurkkala , Anton Vichalkovski , Ruedi Aebersold , Matthias Gstaiger |
2013-04-25 |
MED6,
PDCD6IP,
FRAT1,
TROAP,
MED16,
RWDD2B,
HUWE1,
EDIL3,
ARPC1B,
HIPK3,
FRY,
AKAP9,
SUGP2,
RASA4,
CDK2,
RBM7,
CDK3,
CDK4,
PSME3,
CDK5,
FLOT1,
DDX39A,
CDK6,
CDK7,
HNRNPR,
DCAF7,
CDK8,
SRRM1,
CDK9,
SF3B4,
CDKN1A,
AKAP8,
CDKN1B,
STUB1,
CDKN1C,
CDKN2A,
PAK4,
CDKN2B,
ZNF267,
CDKN2C,
CDKN2D,
NPM2,
CACNG2,
RBM14,
HAX1,
BAIAP2,
PFDN6,
EIF3M,
SEC23B,
ENOX2,
MYBBP1A,
CHERP,
NOP56,
UBD,
MAB21L2,
DRAP1,
PRPF8,
CDC42EP3,
USP39,
PTGES3,
YME1L1,
NUP50,
HBS1L,
AHCYL1,
ZMYND11,
ZNF460,
CPSF4,
TRAFD1,
MAGED2,
RNPS1,
SUB1,
SRSF8,
AFG3L2,
MSL3,
STIP1,
EBNA1BP2,
SNRNP27,
STON1,
NUDT21,
CPSF6,
CHD2,
SNRNP35,
DIDO1,
WDR5,
KRR1,
FOXN3,
CLASRP,
KPTN,
WDR6,
SUPT16H,
CHEK2,
AKAP11,
EGLN2,
MED8,
GLCCI1,
GABARAP,
U2AF2,
CHUK,
EVI5L
|
| 排名 | 科研单位 | 文献 |
|---|---|---|
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|---|---|---|
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