Type | Description |
---|---|
Definition | otogelin like |
Date | Results | Publications |
---|---|---|
2021-01-23 13:04:00 | [Phenotype and genotype analysis of recessive hereditary moderate sensorineural hearing loss caused by new mutations in OTOGL gene]. | 33455126 |
2015-12-19 10:11:00 | We identified novel biallelic OTOGL mutations in a Chinese autosomal recessive non-syndromic hearing loss family. | 25829320 |
2015-02-07 10:53:00 | Patients with OTOGL mutation show a flat to downsloping configuration of the audiogram with mild to moderate sensorineural hearing loss. Speech recognition scores remain good and vestibular hyporeflexia is present. | 24378291 |
2013-01-26 11:17:00 | OTOGL mutations affect the production and/or function of acellular structures of the inner ear, which ultimately leads to sensorineural hearing loss. | 23122586 |
2010-06-30 22:06:00 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | 20379614 |
Type | IDs |
---|---|
Synonymous | C12orf64, DFNB84B |
Gene |
UniProtKB-ID:
A0A0A0MSS2_HUMAN
UniprotKB:
A0A0A0MSS2
UniParc:
UPI0001D089C5
EMBL:
AC083812,
AC092945,
AC078817
Ensembl:
ENSG00000165899
|
Nucleutide sequences |
Ensembl_TRS:
ENST00000458043
|
Protein sequencees |
Ensembl_PRO:
ENSP00000400895
RefSeq:
NP_001365539.2,
NP_775862.4,
NP_001354991.2,
XP_011536495.1,
XP_005268859.1,
XP_011536494.1,
NP_001365538.2
|
Others |
UniRef100:
UniRef100_A0A0A0MSS2
UniRef90:
UniRef90_Q3ZCN5
UniRef50:
UniRef50_Q3ZCN5
UniGene:
Hs.723594
|
{{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 |
---|---|---|---|
33455126 |
Zhonghua Yi Xue Za Zhi M L Feng , S S Huang , F Z Tang , X Zhang , X H Li , S W Qiu , Y Y Yuan |
2021-01-12 | - |
32814053 |
Cell Rep Christian Haenig , Nir Atias , Alexander K Taylor , Arnon Mazza , Martin H Schaefer , Jenny Russ , Sean-Patrick Riechers , Shushant Jain , Maura Coughlin , Jean-Fred Fontaine , Brian D Freibaum , Lydia Brusendorf , Martina Zenkner , Pablo Porras , Martin Stroedicke , Sigrid Schnoegl , Kristin Arnsburg , Annett Boeddrich , Lucia Pigazzini , Peter Heutink , J Paul Taylor , Janine Kirstein , Miguel A Andrade-Navarro , Roded Sharan , Erich E Wanker |
2020-08-18 | - |
25829320 |
Int J Pediatr Otorhinolaryngol Xiaodong Gu , Shan Sun , Luo Guo , Xiaoling Lu , Honglin Mei , Chuijin Lai , Huawei Li |
2015-06-01 | - |
23122586 |
Am. J. Hum. Genet. Kemal O Yariz , Duygu Duman , Celia Zazo Seco , Julia Dallman , Mingqian Huang , Theo A Peters , Asli Sirmaci , Na Lu , Margit Schraders , Isaac Skromne , Jaap Oostrik , Oscar Diaz-Horta , Juan I Young , Suna Tokgoz-Yilmaz , Ozlem Konukseven , Hashem Shahin , Lisette Hetterschijt , Moien Kanaan , Anne M M Oonk , Yvonne J K Edwards , Huawei Li , Semra Atalay , Susan Blanton , Alexandra A Desmidt , Xue-Zhong Liu , Ronald J E Pennings , Zhongmin Lu , Zheng-Yi Chen , Hannie Kremer , Mustafa Tekin |
2012-11-02 | - |
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 | - |
20379614 |
Mol. Med. Jed E Rose , Frédérique M Behm , Tomas Drgon , Catherine Johnson , George R Uhl |
2010-03-17 | - |
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 | - |
24378291 |
Similar phenotypes caused by mutations in OTOG and OTOGL. Ear Hear Anne M M Oonk , Joop M Leijendeckers , Patrick L M Huygen , Margit Schraders , Miguel del Campo , Ignacio del Castillo , Mustafa Tekin , Ilse Feenstra , Andy J Beynon , Henricus P M Kunst , Ad F M Snik , Hannie Kremer , Ronald J C Admiraal , Ronald J E Pennings |
1700-01-01 |
OTOGL,
OTOG
|
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