| Type | Description |
|---|---|
| Definition | TBC1 domain family member 8B |
| Date | Results | Publications |
|---|---|---|
| 2020-06-13 11:48:00 | TBC1D8B mutations were found in 5 families with nephrotic syndrome: 2 premature stop codons (c.1030C>T, p.Arg344* and c.1383G>A, p.Trp461*), 3 missense mutations (c.2338A>T, p.Thr780Ser, c.1316T>G, p.Phe439Cys, and c.190C>T, p.Arg64Cys). TBC1D8B plays a regulatory role by inhibiting endogenous RAB11. It interacts with nephrin. | 31732614 |
| 2019-11-23 12:42:00 | results confirmed that pathogenic variations in TBC1D8B are involved in X-linked podocytopathy and points to alterations in recycling processes as a mechanism of steroid-resistant nephrotic syndrome | 30661770 |
| Type | IDs |
|---|---|
| Synonymous | GRAMD8B |
| Gene |
UniProtKB-ID:
TBC8B_HUMAN
UniprotKB:
Q0IIM8
UniParc:
UPI000173AA3C,
UPI0000225CD6,
UPI0000225CD5
EMBL:
AL591849,
AL391315,
AK123957,
BC122564,
AB449890,
AK000305,
AB449891
Ensembl:
ENSG00000133138
KO:
hsa:54885
|
| Nucleutide sequences |
EMBL-CDS:
BAC85735.1,
BAH16633.1,
BAH16634.1,
BAA91071.1,
AAI22565.1
Ensembl_TRS:
ENST00000310452,
ENST00000357242
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000349781,
ENSP00000310675
RefSeq:
XP_006724733.1,
XP_006724732.1,
NP_060222.2,
NP_942582.1
|
| Others |
UniRef100:
UniRef100_Q0IIM8
UniRef90:
UniRef90_Q0IIM8
UniRef50:
UniRef50_Q0IIM8
UniGene:
Hs.351798
CCDS:
CCDS14523.1,
CCDS14522.1
|
| {{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 |
|---|---|---|---|
| 31732614 |
J Am Soc Nephrol Lina L Kampf , Ronen Schneider , Lea Gerstner , Roland Thünauer , Mengmeng Chen , Martin Helmstädter , Ali Amar , Ana C Onuchic-Whitford , Reyner Loza Munarriz , Afig Berdeli , Dominik Müller , Eva Schrezenmeier , Klemens Budde , Shrikant Mane , Kristen M Laricchia , Heidi L Rehm , Daniel G MacArthur , Richard P Lifton , Gerd Walz , Winfried Römer , Carsten Bergmann , Friedhelm Hildebrandt , Tobias Hermle |
2019-12-01 | - |
| 31586073 |
The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. Nat Commun Luisa Capalbo , Zuni I Bassi , Marco Geymonat , Sofia Todesca , Liviu Copoiu , Anton J Enright , Giuliano Callaini , Maria Giovanna Riparbelli , Lu Yu , Jyoti S Choudhary , Enrico Ferrero , Sally Wheatley , Max E Douglas , Masanori Mishima , Pier Paolo D'Avino |
2019-10-04 | - |
| 30661770 |
Am J Hum Genet Guillaume Dorval , Valeryia Kuzmuk , Olivier Gribouval , Gavin I Welsh , Agnieszka Bierzynska , Alain Schmitt , Stéphanie Miserey-Lenkei , Ania Koziell , Shuman Haq , Alexandre Benmerah , Géraldine Mollet , Olivia Boyer , Moin A Saleem , Corinne Antignac |
2019-02-07 | - |
| 30196744 |
ATG5 is required for B cell polarization and presentation of particulate antigens. Autophagy Florent Arbogast , Johan Arnold , Philippe Hammann , Lauriane Kuhn , Johana Chicher , Diane Murera , Justine Weishaar , Sylviane Muller , Jean-Daniel Fauny , Frédéric Gros |
2019-02-01 | - |
| 23143602 |
Nat Genet David C Whitcomb , Jessica LaRusch , Alyssa M Krasinskas , Lambertus Klei , Jill P Smith , Randall E Brand , John P Neoptolemos , Markus M Lerch , Matt Tector , Bimaljit S Sandhu , Nalini M Guda , Lidiya Orlichenko , Alzheimer's Disease Genetics Consortium , Samer Alkaade , Stephen T Amann , Michelle A Anderson , John Baillie , Peter A Banks , Darwin Conwell , Gregory A Coté , Peter B Cotton , James DiSario , Lindsay A Farrer , Chris E Forsmark , Marianne Johnstone , Timothy B Gardner , Andres Gelrud , William Greenhalf , Jonathan L Haines , Douglas J Hartman , Robert A Hawes , Christopher Lawrence , Michele Lewis , Julia Mayerle , Richard Mayeux , Nadine M Melhem , Mary E Money , Thiruvengadam Muniraj , Georgios I Papachristou , Margaret A Pericak-Vance , Joseph Romagnuolo , Gerard D Schellenberg , Stuart Sherman , Peter Simon , Vijay P Singh , Adam Slivka , Donna Stolz , Robert Sutton , Frank Ulrich Weiss , C Mel Wilcox , Narcis Octavian Zarnescu , Stephen R Wisniewski , Michael R O'Connell , Michelle L Kienholz , Kathryn Roeder , M Michael Barmada , Dhiraj Yadav , Bernie Devlin |
2012-12-01 | - |
| 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 | - |
| 19077034 |
Genes Cells Koutaro Ishibashi , Eiko Kanno , Takashi Itoh , Mitsunori Fukuda |
2009-01-01 |
Rab3a,
Rab3a,
Tbc1d10b,
TBC1D7-LOC100130357,
TBC1D8,
EVI5L,
TBC1D16,
TBC1D20,
SGSM1,
TBC1D21,
RAB3GAP1,
TBC1D9B,
TBC1D9,
TBC1D1,
TBC1D12,
TBC1D30,
RABGAP1,
TBC1D22A,
TBC1D10B,
SGSM3,
TBC1D26,
TBC1D25,
TBC1D7,
TBC1D13,
TBC1D8B,
TBC1D19,
TBC1D2,
TBC1D22B,
TBC1D23,
TBC1D24,
TBC1D14,
TBC1D15,
TBC1D3,
EVI5,
TBC1D17,
GRTP1,
TBC1D10A,
TBC1D3F,
USP6,
TBCK,
USP6NL,
TBC1D5,
TBC1D4,
SGSM2,
RABGAP1L
|
| 14702039 |
Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat. Genet. Toshio Ota , Yutaka Suzuki , Tetsuo Nishikawa , Tetsuji Otsuki , Tomoyasu Sugiyama , Ryotaro Irie , Ai Wakamatsu , Koji Hayashi , Hiroyuki Sato , Keiichi Nagai , Kouichi Kimura , Hiroshi Makita , Mitsuo Sekine , Masaya Obayashi , Tatsunari Nishi , Toshikazu Shibahara , Toshihiro Tanaka , Shizuko Ishii , Jun-ichi Yamamoto , Kaoru Saito , Yuri Kawai , Yuko Isono , Yoshitaka Nakamura , Kenji Nagahari , Katsuhiko Murakami , Tomohiro Yasuda , Takao Iwayanagi , Masako Wagatsuma , Akiko Shiratori , Hiroaki Sudo , Takehiko Hosoiri , Yoshiko Kaku , Hiroyo Kodaira , Hiroshi Kondo , Masanori Sugawara , Makiko Takahashi , Katsuhiro Kanda , Takahide Yokoi , Takako Furuya , Emiko Kikkawa , Yuhi Omura , Kumi Abe , Kumiko Kamihara , Naoko Katsuta , Kazuomi Sato , Machiko Tanikawa , Makoto Yamazaki , Ken Ninomiya , Tadashi Ishibashi , Hiromichi Yamashita , Katsuji Murakawa , Kiyoshi Fujimori , Hiroyuki Tanai , Manabu Kimata , Motoji Watanabe , Susumu Hiraoka , Yoshiyuki Chiba , Shinichi Ishida , Yukio Ono , Sumiyo Takiguchi , Susumu Watanabe , Makoto Yosida , Tomoko Hotuta , Junko Kusano , Keiichi Kanehori , Asako Takahashi-Fujii , Hiroto Hara , Tomo-o Tanase , Yoshiko Nomura , Sakae Togiya , Fukuyo Komai , Reiko Hara , Kazuha Takeuchi , Miho Arita , Nobuyuki Imose , Kaoru Musashino , Hisatsugu Yuuki , Atsushi Oshima , Naokazu Sasaki , Satoshi Aotsuka , Yoko Yoshikawa , Hiroshi Matsunawa , Tatsuo Ichihara , Namiko Shiohata , Sanae Sano , Shogo Moriya , Hiroko Momiyama , Noriko Satoh , Sachiko Takami , Yuko Terashima , Osamu Suzuki , Satoshi Nakagawa , Akihiro Senoh , Hiroshi Mizoguchi , Yoshihiro Goto , Fumio Shimizu , Hirokazu Wakebe , Haretsugu Hishigaki , Takeshi Watanabe , Akio Sugiyama , Makoto Takemoto , Bunsei Kawakami , Masaaki Yamazaki , Koji Watanabe , Ayako Kumagai , Shoko Itakura , Yasuhito Fukuzumi , Yoshifumi Fujimori , Megumi Komiyama , Hiroyuki Tashiro , Akira Tanigami , Tsutomu Fujiwara , Toshihide Ono , Katsue Yamada , Yuka Fujii , Kouichi Ozaki , Maasa Hirao , Yoshihiro Ohmori , Ayako Kawabata , Takeshi Hikiji , Naoko Kobatake , Hiromi Inagaki , Yasuko Ikema , Sachiko Okamoto , Rie Okitani , Takuma Kawakami , Saori Noguchi , Tomoko Itoh , Keiko Shigeta , Tadashi Senba , Kyoka Matsumura , Yoshie Nakajima , Takae Mizuno , Misato Morinaga , Masahide Sasaki , Takushi Togashi , Masaaki Oyama , Hiroko Hata , Manabu Watanabe , Takami Komatsu , Junko Mizushima-Sugano , Tadashi Satoh , Yuko Shirai , Yukiko Takahashi , Kiyomi Nakagawa , Koji Okumura , Takahiro Nagase , Nobuo Nomura , Hisashi Kikuchi , Yasuhiko Masuho , Riu Yamashita , Kenta Nakai , Tetsushi Yada , Yusuke Nakamura , Osamu Ohara , Takao Isogai , Sumio Sugano |
2004-01-01 |
Slc9a8,
Nefm,
Hfe2,
AKT3,
ZBTB11-AS1,
LOC100034248,
PDZK1P1,
DDTL,
LOC100049716,
ACOT8,
GNPDA1,
ZBTB33,
GTF2IP4,
POM121C,
ZSCAN30,
SRA1,
SNORD123,
UCKL1-AS1,
ZGLP1,
LOC100125918,
LINC00322,
LOC100127940,
HECW1-IT1,
LOC100127955,
LOC100127972,
LOC100127974,
FAM229A,
LOC100128076,
STAU2-AS1,
LOC100128164,
TMPO-AS1,
LOC100128219,
LOC100128239,
LOC100128253,
TNK2-AS1,
DNM1P35,
LOC100128288,
DLG5-AS1,
LOC100128310,
TRAPPC3L,
FAM83H-AS1,
LOC100128361,
LOC100128364,
FAM225B,
LOC100128386,
LOC100128398,
ASTN2-AS1,
C1orf132,
MYHAS,
LOC100128651,
LINC00476,
SRRM2-AS1,
GPR158-AS1,
LINC01165,
VPS9D1-AS1,
FAM66B,
GATA6-AS1,
LINC01310,
LOC100128979,
LOC100128988,
LOC100129034,
SEMA3F-AS1,
UNQ6494,
LOC100129115,
KHDC1L,
LOC100129175,
MATN1-AS1,
SLC39A12-AS1,
LOC100129297,
LOC100129312,
LINC00484,
LOC100129397,
LOC100129406,
DDC-AS1,
LOC100129434,
LOC100129447,
LOC100129455,
LYRM4-AS1,
ZNF37BP,
LOC100129516,
LOC100129518,
LOC100129540,
LOC100129572,
FAM47E,
LOC100129620,
LOC100129648,
C9orf173-AS1,
LOC100129775,
SLC25A21-AS1,
PCOLCE-AS1,
SCOC-AS1,
LOC100129884,
LOC100129894,
LOC100129917,
LOC100129935,
LOC100130078,
LOC100130111,
MAPT-IT1,
MIR124-2HG
|
| 12477932 |
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc. Natl. Acad. Sci. U.S.A. Robert L Strausberg , Elise A Feingold , Lynette H Grouse , Jeffery G Derge , Richard D Klausner , Francis S Collins , Lukas Wagner , Carolyn M Shenmen , Gregory D Schuler , Stephen F Altschul , Barry Zeeberg , Kenneth H Buetow , Carl F Schaefer , Narayan K Bhat , Ralph F Hopkins , Heather Jordan , Troy Moore , Steve I Max , Jun Wang , Florence Hsieh , Luda Diatchenko , Kate Marusina , Andrew A Farmer , Gerald M Rubin , Ling Hong , Mark Stapleton , M Bento Soares , Maria F Bonaldo , Tom L Casavant , Todd E Scheetz , Michael J Brownstein , Ted B Usdin , Shiraki Toshiyuki , Piero Carninci , Christa Prange , Sam S Raha , Naomi A Loquellano , Garrick J Peters , Rick D Abramson , Sara J Mullahy , Stephanie A Bosak , Paul J McEwan , Kevin J McKernan , Joel A Malek , Preethi H Gunaratne , Stephen Richards , Kim C Worley , Sarah Hale , Angela M Garcia , Laura J Gay , Stephen W Hulyk , Debbie K Villalon , Donna M Muzny , Erica J Sodergren , Xiuhua Lu , Richard A Gibbs , Jessica Fahey , Erin Helton , Mark Ketteman , Anuradha Madan , Stephanie Rodrigues , Amy Sanchez , Michelle Whiting , Anup Madan , Alice C Young , Yuriy Shevchenko , Gerard G Bouffard , Robert W Blakesley , Jeffrey W Touchman , Eric D Green , Mark C Dickson , Alex C Rodriguez , Jane Grimwood , Jeremy Schmutz , Richard M Myers , Yaron S N Butterfield , Martin I Krzywinski , Ursula Skalska , Duane E Smailus , Angelique Schnerch , Jacqueline E Schein , Steven J M Jones , Marco A Marra , Mammalian Gene Collection Program Team |
2002-12-24 | - |
| 8889548 |
Normalization and subtraction: two approaches to facilitate gene discovery. Genome Res. M F Bonaldo , G Lennon , M B Soares |
1996-09-01 | - |
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
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| 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