CRB2 - crumbs cell polarity complex component 2-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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286204 CRB2

基因描述

Type	Description
Definition	crumbs cell polarity complex component 2

研究结论

Date	Results	Publications
2020-05-02 12:16:00	Data show that crumbs homolog 2 protein (CRB2) protein precedes the expression of crumbs homologue 1 protein (CRB1) in the developing retina.	30956116
2019-05-11 10:31:00	Thus, we conclude that CRB2 p.R1249G mutation causes retinitis pigmentosa (RP) via accelerating epithelial-mesenchymal transition (EMT), dysfunction and loss of retinal pigment epithelium cells, and establish CRB2 as a novel Crumbs family member associated with non-syndromic RP.	30593785
2019-02-09 11:13:00	CRB2 may play an important role in the mechanistic pathway of developing podocytes through tyrosine phosphorylation by associating with mTORC1 activation.	30125302
2018-12-01 11:53:00	Case Report: steroid-resistant nephrotic syndrome caused by a novel Crumbs homolog 2 mutation.	29473663
2018-03-10 10:31:00	These findings demonstrate that Crb2 abnormalities caused by these mutations are the mechanism of steroid-resistant nephrotic syndrome	27942854

名称对应

Type	IDs
Synonymous	FSGS9, VMCKD
Gene	UniProtKB-ID: CRUM2_HUMAN UniprotKB: Q5IJ48 UniParc: UPI00004577AA, UPI000022D9E0, UPI000022D9DE EMBL: AL365504, AK126775, AY720432, AK123000, AL445489, DQ426866 Ensembl: ENSG00000148204 KO: hsa:286204
Nucleutide sequences	EMBL-CDS: AAU14134.1, BAC86684.1, ABD90532.1 Ensembl_TRS: ENST00000373631, ENST00000460253, ENST00000359999
Protein sequencees	Ensembl_PRO: ENSP00000362734, ENSP00000353092, ENSP00000435279 RefSeq: XP_011516858.1, XP_005251991.1, XP_011516860.1, NP_775960.4, XP_011516859.1
Others	UniRef100: UniRef100_Q5IJ48 UniRef90: UniRef90_Q5IJ48 UniRef50: UniRef50_Q5IJ48 UniGene: Hs.710092 CCDS: CCDS6852.2

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mRNA

Protein

UniprotKB

Description

Refseq

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全选

Pubmed编号	文献信息	发表日期	相关基因
30956116	Human iPSC-Derived Retinas Recapitulate the Fetal CRB1 CRB2 Complex Formation and Demonstrate that Photoreceptors and MÃ¼ller Glia Are Targets of AAV5. Stem Cell Reports Peter M Quinn , Thilo M Buck , Aat A Mulder , Charlotte Ohonin , C Henrique Alves , Rogier M Vos , Monika Bialecka , Tessa van Herwaarden , Elon H C van Dijk , Mays Talib , Christian Freund , Harald M M Mikkers , Rob C Hoeben , Marie-JosÃ© Goumans , Camiel J F Boon , Abraham J Koster , Susana M Chuva de Sousa Lopes , Carolina R Jost , Jan Wijnholds	2019-05-14	-
30593785	CRB2 mutation causes autosomal recessive retinitis pigmentosa. Exp Eye Res Xue Chen , Chao Jiang , Daidi Yang , Ruxu Sun , Min Wang , Hong Sun , Min Xu , Luyin Zhou , Mingkang Chen , Ping Xie , Biao Yan , Qinghuai Liu , Chen Zhao	2019-03-01	-
29473663	Long-term clinicopathologic observation in a case of steroid-resistant nephrotic syndrome caused by a novel Crumbs homolog 2 mutation. Nephrology (Carlton) Shojiro Watanabe , Tomomi Aizawa , Hiroyasu Tsukaguchi , Koji Tsugawa , Kazushi Tsuruga , Akemi Shono , Kandai Nozu , Kazumoto Iijima , Kensuke Joh , Hiroshi Tanaka	2018-07-01	-
30125302	Association of crumbs homolog-2 with mTORC1 in developing podocyte. PLoS ONE Sho Hamano , Yukino Nishibori , Ichiro Hada , Naoaki Mikami , Noriko Ito-Nitta , Daisuke Fukuhara , Akihiko Kudo , Zhijie Xiao , Masatoshi Nukui , Jaakko Patrakka , Karl Tryggvason , Kunimasa Yan	2018-01-01	-
27942854	Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome. Pediatr. Nephrol. Tomohiro Udagawa , Tohaku Jo , Takeshi Yanagihara , Akira Shimizu , Jun Mitsui , Shoji Tsuji , Shinichi Morishita , Reiko Onai , Kenichiro Miura , Shoichiro Kanda , Yuko Kajiho , Haruko Tsurumi , Akira Oka , Motoshi Hattori , Yutaka Harita	2017-05-01	-
26925547	Expanding the phenotype of CRB2 mutationsÂ -Â A new ciliopathy syndrome? Clin. Genet. R Jaron , N Rosenfeld , F Zahdeh , S Carmi , L Beni-Adani , V Doviner , E Picard , R Segel , S Zeligson , L Carmel , P Renbaum , E Levy-Lahad	2016-12-01	-
27004616	Expansion of phenotype and genotypic data in CRB2-related syndrome. Eur. J. Hum. Genet. Ryan E Lamont , Wen-Hann Tan , A Micheil Innes , Jillian S Parboosingh , Dina Schneidman-Duhovny , Aleksandar Rajkovic , John Pappas , Pablo Altschwager , Stephanie DeWard , Anne Fulton , Kathryn J Gray , Max Krall , Lakshmi Mehta , Lance H Rodan , Devereux N Saller , Deanna Steele , Deborah Stein , Svetlana A Yatsenko , FranÃ§ois P Bernier , Anne M Slavotinek	2016-10-01	-
25557780	CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein. Am J Hum Genet Anne Slavotinek , Julie Kaylor , Heather Pierce , Michelle Cahr , Stephanie J DeWard , Dina Schneidman-Duhovny , Adnan Alsadah , Fadi Salem , Gabriela Schmajuk , Lakshmi Mehta	2015-01-08	-
25557779	Defects of CRB2 cause steroid-resistant nephrotic syndrome. Am J Hum Genet Lwaki Ebarasi , Shazia Ashraf , Agnieszka Bierzynska , Heon Yung Gee , Hugh J McCarthy , Svjetlana Lovric , Carolin E Sadowski , Werner Pabst , Virginia Vega-Warner , Humphrey Fang , Ania Koziell , Michael A Simpson , Ismail Dursun , Erkin Serdaroglu , Shawn Levy , Moin A Saleem , Friedhelm Hildebrandt , Arindam Majumdar	2015-01-08	-
24565864	CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice. Hum. Mol. Genet. Lucie P Pellissier , Ditte M S Lundvig , Naoyuki Tanimoto , Jan Klooster , Rogier M Vos , Fabrice Richard , Vithiyanjali Sothilingam , Marina Garcia Garrido , AndrÃ© Le Bivic , Mathias W Seeliger , Jan Wijnholds	2014-07-15	Crb1, Crb2, CRB1, CRB2

研究热度

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