MYL3 - myosin light chain 3-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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4634 MYL3

基因描述

Type	Description
Definition	myosin light chain 3

研究结论

Date	Results	Publications
2019-09-14 11:45:00	The study revealed a total of 10 variations - 7 in MYL2 and 3 in MYL3, of which 3 are novel variations observed exclusively in cases. MYL2 and MYL3 mutations are rare and the least cause of cardiomyopathies in Indians.	30605904
2016-08-20 11:37:00	In Familial Hypertrophic Cardiomyopathy, the MYL3 Arg94His variant was associated with high disease penetrance and substantial interventricular septal hypertrophy	26443374
2012-02-11 10:58:00	This is the first report of mutations in TPM1, MY L3, and MYL2 associated with primary, non-hypertrophied restrictive cardiomyopathy.	21823217
2010-09-15 22:06:00	Observational study of gene-disease association. (HuGE Navigator)	19913121
2010-09-15 22:06:00	Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)	20628086

名称对应

Type	IDs
Synonymous	CMH8, MLC-lV/sb, MLC1SB, MLC1V, VLC1, VLCl
Gene	UniProtKB-ID: MYL3_HUMAN, A0A024R2Q5_HUMAN UniprotKB: P08590, A0A024R2Q5 UniParc: UPI0000000CA2 EMBL: M24247, M24243, M24242, M24122, M24244, M24245, CH471055, BC009790, X07373, AK312044, M24246, AF174483 Ensembl: ENSG00000160808 KO: hsa:4634
Nucleutide sequences	EMBL-CDS: AAF91089.1, AAA59851.1, BAG34981.1, EAW64791.1, AAH09790.1, AAA59895.1, CAA30292.1, EAW64792.1 Gene_ORFName: hCG_15424 Ensembl_TRS: ENST00000653454, ENST00000292327, ENST00000395869, ENST00000662933, ENST00000654597
Protein sequencees	Ensembl_PRO: ENSP00000499406, ENSP00000379210, ENSP00000499624, ENSP00000499577, ENSP00000292327 RefSeq: NP_000249.1
Others	UniRef100: UniRef100_P08590 UniRef90: UniRef90_P08590 UniRef50: UniRef50_P08590 UniGene: Hs.517939 CCDS: CCDS2746.1

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mRNA

Protein

UniprotKB

Description

Refseq

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Pubmed编号	文献信息	发表日期	相关基因
29872149	Agrin has a pathological role in the progression of oral cancer. Br. J. Cancer CÃ©sar Rivera , FlÃ¡via Silva Zandonadi , Celeste SÃ¡nchez-Romero , Ciro Dantas Soares , Daniela Campos Granato , Wilfredo Alejandro GonzÃ¡lez-Arriagada , Adriana Franco Paes Leme	2018-06-01	-
30605904	A Complete Absence of Missense Mutation in Myosin Regulatory and Essential Light Chain Genes of South Indian Hypertrophic and Dilated Cardiomyopathies. Cardiology Deepa Selvi Rani , Pratibha Nallari , Jhansi Rani , Sheikh Nizamuddin , Thulasamma Seelamneni , Calambur Narasimhan , Kumarasamy Thangaraj	2018-01-01	-
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	-
28190767	An Interaction Landscape of Ubiquitin Signaling. Mol. Cell Xiaofei Zhang , Arne H Smits , Gabrielle B A van Tilburg , Pascal W T C Jansen , Matthew M Makowski , Huib Ovaa , Michiel Vermeulen	2017-03-02	-
26443374	Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy. J Cardiol Akihiro Nomura , Hayato Tada , Ryota Teramoto , Tetsuo Konno , Akihiko Hodatsu , Hong-Hee Won , Sekar Kathiresan , Hidekazu Ino , Noboru Fujino , Masakazu Yamagishi , Kenshi Hayashi	2016-02-01	-
23788249	ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet. Med. Robert C Green , Jonathan S Berg , Wayne W Grody , Sarah S Kalia , Bruce R Korf , Christa L Martin , Amy L McGuire , Robert L Nussbaum , Julianne M O'Daniel , Kelly E Ormond , Heidi L Rehm , Michael S Watson , Marc S Williams , Leslie G Biesecker , American College of Medical Genetics and Genomics	2013-07-01	COL3A1, DSC2, DSG2, DSP, FBN1, PCSK9, GLA, MSH6, APC, APOB, KCNH2, KCNQ1, LDLR, LMNA, SMAD3, MEN1, MLH1, MSH2, MUTYH, MYBPC3, MYH7, MYH11, MYL2, MYL3, MYLK, NF2, NTRK1, PRKAG2, PKP2, PMS2, SDHAF2, PTEN, ACTA2, RB1, RET, RYR1, RYR2, SCN5A, SDHB, SDHC, SDHD, BRCA1, BRCA2, STK11, ACTC1, TGFBR1, TGFBR2, TNNI3, TNNT2, TP53, TPM1, TSC1, TSC2, VHL, WT1, CACNA1S, TMEM43
22266860	Sp1 phosphorylation by cyclin-dependent kinase 1/cyclin B1 represses its DNA-binding activity during mitosis in cancer cells. Oncogene J-Y Chuang , S-A Wang , W-B Yang , H-C Yang , C-Y Hung , T-P Su , W-C Chang , J-J Hung	2012-11-22	-
21988832	Toward an understanding of the protein interaction network of the human liver. Mol. Syst. Biol. Jian Wang , Keke Huo , Lixin Ma , Liujun Tang , Dong Li , Xiaobi Huang , Yanzhi Yuan , Chunhua Li , Wei Wang , Wei Guan , Hui Chen , Chaozhi Jin , Juncheng Wei , Wanqiao Zhang , Yongsheng Yang , Qiongming Liu , Ying Zhou , Cuili Zhang , Zhihao Wu , Wangxiang Xu , Ying Zhang , Tao Liu , Donghui Yu , Yaping Zhang , Liang Chen , Dewu Zhu , Xing Zhong , Lixin Kang , Xiang Gan , Xiaolan Yu , Qi Ma , Jing Yan , Li Zhou , Zhongyang Liu , Yunping Zhu , Tao Zhou , Fuchu He , Xiaoming Yang	2011-10-11	-
21823217	Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy. Am J Med Genet A Colleen Caleshu , Rahul Sakhuja , Robert L Nussbaum , Nelson B Schiller , Philip C Ursell , Celeste Eng , Teresa De Marco , Dana McGlothlin , Esteban GonzÃ¡lez Burchard , J Eduardo Rame	2011-09-01	-
20628086	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Diabetes Care Swneke D Bailey , Changchun Xie , Ron Do , Alexandre Montpetit , Rafael Diaz , Viswanathan Mohan , Bernard Keavney , Salim Yusuf , Hertzel C Gerstein , James C Engert , Sonia Anand , DREAM investigators	2010-10-01	-

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