TMEM132E - transmembrane protein 132E-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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124842 TMEM132E

基因描述

Type	Description
Definition	transmembrane protein 132E

研究结论

Date	Results	Publications
2020-12-19 13:43:00	Hair cell alpha9alpha10 nicotinic acetylcholine receptor functional expression regulated by ligand binding and deafness gene products.	32929005
2020-07-18 10:53:00	The authors present a second Autosomal-recessive (AR) nonsyndromic hearing impairment (NSHI) family with TMEM132E variants which strengthens the evidence of the involvement of this gene in the etiology of	31656313
2015-09-12 10:49:00	Whole-exome sequencing revealed a homozygous missense mutation (c.1259G>A, p.Arg420Gln) in the gene-encoding transmembrane protein 132E (TMEM132E) as the causative variant of autosomal-recessive nonsyndromic hearing loss.	25331638

名称对应

Type	IDs
Synonymous	DFNB99
Gene	UniProtKB-ID: T132E_HUMAN UniprotKB: Q6IEE7 UniParc: UPI00058DEC55 EMBL: BC020591, AC005691, BN000149, BC018318 Ensembl: ENSG00000181291 KO: hsa:124842
Nucleutide sequences	EMBL-CDS: CAD80169.1, AAH18318.1, AAH20591.1 Ensembl_TRS: ENST00000631683
Protein sequencees	Ensembl_PRO: ENSP00000487800 RefSeq: NP_001291367.1
Others	UniRef100: UniRef100_Q6IEE7 UniRef90: UniRef90_Q6IEE7 UniRef50: UniRef50_Q6IEE7 UniGene: Hs.310482 CCDS: CCDS11283.2

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mRNA

Protein

UniprotKB

Description

Refseq

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Location

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Pubmed编号	文献信息	发表日期	相关基因
32929005	Hair cell Î±9Î±10 nicotinic acetylcholine receptor functional expression regulated by ligand binding and deafness gene products. Proc Natl Acad Sci U S A Shenyan Gu , Daniel Knowland , Jose A Matta , Min L O'Carroll , Weston B Davini , Madhurima Dhara , Hae-Jin Kweon , David S Bredt	2020-09-29	-
31656313	Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment. J Hum Genet Khurram Liaqat , Shabir Hussain , Muhammad Bilal , Abdul Nasir , Anushree Acharya , Raja Hussain Ali , Shoaib Nawaz , Muhammad Umair , Isabelle Schrauwen , Wasim Ahmad , Suzanne M Leal	2020-01-01	-
29088312	TMEM132: an ancient architecture of cohesin and immunoglobulin domains define a new family of neural adhesion molecules. Bioinformatics Luis Sanchez-Pulido , Chris P Ponting	2018-03-01	-
27992416	Genome-wide association analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traits. Nat Genet Jacqueline M Lane , Jingjing Liang , Irma Vlasac , Simon G Anderson , David A Bechtold , Jack Bowden , Richard Emsley , Shubhroz Gill , Max A Little , Annemarie I Luik , Andrew Loudon , Frank A J L Scheer , Shaun M Purcell , Simon D Kyle , Deborah A Lawlor , Xiaofeng Zhu , Susan Redline , David W Ray , Martin K Rutter , Richa Saxena	2017-02-01	-
25331638	Whole-exome sequencing identifies a variant in TMEM132E causing autosomal-recessive nonsyndromic hearing loss DFNB99. Hum. Mutat. Jiangxia Li , Xiaohan Zhao , Qian Xin , Shan Shan , Baichun Jiang , Yecheng Jin , Huijun Yuan , Pu Dai , Ruo Xiao , Qingyan Zhang , Jingjing Xiao , Changshun Shao , Yaoqin Gong , Qiji Liu	2015-01-01	tmem132e, TMEM132E
24529757	Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. Neurobiol. Aging Tong Xie , Libin Deng , Puming Mei , Yiyi Zhou , Bo Wang , Jie Zhang , Jiari Lin , Yi Wei , Xiong Zhang , Renshi Xu	2014-07-01	LOC100130298, LOC100288911, LINC00351, LOC101927960, KCNMB2, LOC102724102, PROCR, OLFM4, TSPAN9, STON1, TMEM132B, SLITRK1, FAT3, TMEM132E, CHODL, MACROD2, CTNND2, METTL21A, DACH1, SYNPO2, EPB41, ERBB4, ALCAM, FGF9, MRAS, WAPL, NFASC, GSE1, NEDD4L, ZFYVE26, ADGRD1, C3orf56, STON1-GTF2A1L, ANK3, HADH, ANXA3, HOXD10, C22orf34, ITGA9, LOC387820, IQCF5, LAMA2, LDHC, LOC400750, CCSER1, ASIC2, NFATC2, ATP2B2, OPCML, PAX3, CRBN, GLRX5, PDGFRL, PFKP, MASP1, C5orf15, PTH2R, KCTD16, PVT1, LINC00474, RPS6KA1, SDC1, KC6, LOC643339, C6orf132, BMPR1B, SMARCA2, SSTR4, MAP3K7, TBXAS1, TFAP2A, TMPRSS2, TYRP1, SNORD114-31, TRPM8, ASB13, ST6GALNAC5, NUDT12, CALN1, LRRC8C, SLC25A12, INPP4B, SEC16B, NOG, ADAMTSL1, ABCC12, ABCG1, RGS6, RBM19
24362369	Are TMEM genes potential candidate genes for panic disorder? Psychiatr. Genet. Noomi O Gregersen , Henriette N ButtenschÃ¸n , Anne Hedemand , Hans A Dahl , Ann S Kristensen , Birita Clementsen , David P D Woldbye , Pernille Koefoed , Angelika Erhardt , Torben A Kruse , August G Wang , Anders D BÃ¸rglum , Ole Mors	2014-02-01	-
24080446	Genetic modifiers of menopausal hormone replacement therapy and breast cancer risk: a genome-wide interaction study. Endocr Relat Cancer Anja Rudolph , Rebecca Hein , Sara LindstrÃ¶m , Lars Beckmann , Sabine Behrens , Jianjun Liu , Hugues Aschard , Manjeet K Bolla , Jean Wang , ThÃ©rÃ¨se Truong , Emilie Cordina-Duverger , Florence Menegaux , Thomas BrÃ¼ning , Volker Harth , GENICA Network , Gianluca Severi , Laura Baglietto , Melissa Southey , Stephen J Chanock , Jolanta Lissowska , Jonine D Figueroa , Mikael Eriksson , Keith Humpreys , Hatef Darabi , Janet E Olson , Kristen N Stevens , Celine M Vachon , Julia A Knight , Gord Glendon , Anna Marie Mulligan , Alan Ashworth , Nicholas Orr , Minouk Schoemaker , Penny M Webb , kConFab Investigators , AOCS Management Group , Pascal GuÃ©nel , Hiltrud Brauch , Graham Giles , Montserrat GarcÃa-Closas , Kamila Czene , Georgia Chenevix-Trench , Fergus J Couch , Irene L Andrulis , Anthony Swerdlow , David J Hunter , Dieter Flesch-Janys , Douglas F Easton , Per Hall , Heli Nevanlinna , Peter Kraft , Jenny Chang-Claude , Breast Cancer Association Consortium	2013-12-01	-
23903073	Genome-wide association study of the five-factor model of personality in young Korean women. J. Hum. Genet. Han-Na Kim , Seung-Ju Roh , Yeon Ah Sung , Hye Won Chung , Jong-Young Lee , Juhee Cho , Hocheol Shin , Hyung-Lae Kim	2013-10-01	IGF2BP3, TMEM132E, DRD3, ERBB4, OR1A2, HTR5A, PTPRD, ST3GAL1, CAPZA3
14569139	Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region. J. Med. Genet. H Kehrer-Sawatzki , S Tinschert , D E Jenne	2003-10-01	-

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