LIM2 - lens intrinsic membrane protein 2-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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3982 LIM2

基因描述

Type	Description
Definition	lens intrinsic membrane protein 2

研究结论

Date	Results	Publications
2021-04-13 10:08:00	A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract.	32202185
2017-07-01 11:35:00	A novel missense mutation in LIM2 is responsible for autosomal recessive congenital cataracts.	27814360
2012-03-10 11:43:00	we report the absence of mutations in all studied genes in four families with phenotypes associating cataract, mental retardation and microcephaly.	22103961
2011-06-18 10:35:00	The genetic mutation in GJA3, GJA8, and LIM2 may slightly contribute to the development of age-related cataracts.	21386927
2010-05-03 11:16:00	Since the LIM2 gene promoter does not contain a classic TATA box, the Hsu element may serve as the site for binding the RNA polymerase complex.	15968979

名称对应

Type	IDs
Synonymous	CTRCT19, MP17, MP19
Gene	UniProtKB-ID: LMIP_HUMAN UniprotKB: P55344 UniParc: UPI000002AD52, UPI0000047F3A EMBL: AF340019, BC074917, BC069430, BC074916, AF305941, CH471135, L04193, BC126139, AF340020 Ensembl: ENSG00000105370 KO: hsa:3982
Nucleutide sequences	EMBL-CDS: AAK26327.1, AAH74917.1, AAK26328.1, EAW72010.1, AAH69430.1, AAG32328.1, AAI26140.1, AAH74916.1 Ensembl_TRS: ENST00000221973, ENST00000596399
Protein sequencees	Ensembl_PRO: ENSP00000221973, ENSP00000472090 RefSeq: NP_001155220.1, NP_085915.2
Others	UniRef100: UniRef100_P55344 UniRef90: UniRef90_P55344 UniRef50: UniRef50_P55344 UniGene: Hs.162754 CCDS: CCDS12831.1, CCDS59415.1

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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
32202185	A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract. Ophthalmic Genet. Vanita Berry , Nikolas Pontikos , Lubica Dudakova , Anthony T Moore , Roy Quinlan , Petra Liskova , Michel Michaelides	2020-04-01	-
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	-
27814360	Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts. PLoS ONE Bushra Irum , Shahid Y Khan , Muhammad Ali , Haiba Kaul , Firoz Kabir , Bushra Rauf , Fareeha Fatima , Raheela Nadeem , Arif O Khan , Saif Al Obaisi , Muhammad Asif Naeem , Idrees A Nasir , Shaheen N Khan , Tayyab Husnain , Sheikh Riazuddin , Javed Akram , Allen O Eghrari , S Amer Riazuddin	2016-01-01	-
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	-
22103961	Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation. BMC Ophthalmol ManÃ¨l Chograni , Myriam Chaabouni , Faouzi MÃ¢azoul , Hedi Bouzid , Abdelhafid Kraiem , Habiba B Bouhamed Chaabouni	2011-01-01	HSF4, LIM2, PAX6, PITX3
21386927	Genetic variations in GJA3, GJA8, LIM2, and age-related cataract in the Chinese population: a mutation screening study. Mol. Vis. Zhou Zhou , Binbin Wang , Shanshan Hu , Chunmei Zhang , Xu Ma , Yanhua Qi	2011-01-01	GJA3, GJA8, LIM2
18596884	A missense mutation in LIM2 causes autosomal recessive congenital cataract. Mol. Vis. Surya Prakash G Ponnam , Kekunnaya Ramesha , Sushma Tejwani , Jyoti Matalia , Chitra Kannabiran	2008-01-01	LIM2
15968979	Identification of a lens-specific cis-acting element within the basal promoter of the human lens intrinsic membrane protein MP19 gene (LIM2). Sheng Wu Gong Cheng Xue Bao Heng Hsu , Shu-Ren Zhang , Jian-Li Sang , Ruo-Mei Qi , Robert L Church	2004-07-01	LIM2
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	-
12107413	Expressed sequence tag analysis of adult human lens for the NEIBank Project: over 2000 non-redundant transcripts, novel genes and splice variants. Mol. Vis. Graeme Wistow , Steven L Bernstein , M Keith Wyatt , Amita Behal , Jeffrey W Touchman , Gerald Bouffard , Don Smith , Katherine Peterson	2002-06-15	ZSCAN30, TSTD1, LINC00899, LOC100288911, SPG20-AS1, LAMA5-AS1, CDKN1C, LOC105371899, DHRS4, C11orf74, COL4A3, TANGO2, CRYGD, SH3D19, ECI1, ARHGAP27, ABCA2, FDPS, RPGRIP1L, GABPA, GJA8, PGAP2, GLUD1, STK32C, MRPL18, UQCR10, HPD, JMJD8, CA5BP1, LINC-PINT, RNF207, LIM2, C16orf74, MIP, ODF3B, RERE, PAX6, PBX3, C6orf203, LGSN, FAM96B, SERPINB6, PIN1, GID8, SULF2, AGTRAP, PRX, SDF2, SIX3, SSB, TCF3, ARHGEF5, TRPM3, B4GALT2, BTBD6, DAPL1, RAPGEF2, ATG13, CDA

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