SMPX - small muscle protein X-linked-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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23676 SMPX

基因描述

Type	Description
Definition	small muscle protein X-linked

研究结论

Date	Results	Publications
2021-02-06 13:56:00	In silico analysis of nonsynonymous single-nucleotide polymorphisms (nsSNPs) of the SMPX gene.	31583691
2020-07-04 10:53:00	A donor splice-site variant in SMPX causes rare X-linked congenital deafness.	31478598
2018-09-29 10:08:00	detected a single nucleotide variation in two male controls with normal hearing, SMPX c.55A>G (p.Asn19Asp), which has been annotated as a rare variant in the (dbSNP) (rs759552778) and Exome Aggregation Consortium (ExAC) databases. This study has enriched the mutation spectrum of the SMPX gene	29559740
2018-03-24 10:52:00	Results show that SMPX expression is regulated by NOR-1 which binds to SMPX promoter and induces its activity promoting myotube differentiation.	27181368
2018-03-10 10:56:00	We report the first SMPX (DFNX4) mutation in a North American family. Our findings contribute to the existing genotypic and phenotypic spectrum of SMPX associated hearing loss. Furthermore, our data suggest that exome sequencing is promising in the genetic diagnosis of hearing loss	29287879

名称对应

Type	IDs
Synonymous	DFN6, DFNX4
Gene	UniProtKB-ID: SMPX_HUMAN, A0A024RBY1_HUMAN UniprotKB: Q9UHP9, A0A024RBY1 UniParc: UPI0000135AC7 EMBL: AF129505, AK312134, AL772370, AJ250584, BC005948, CH471074 Ensembl: ENSG00000091482 KO: hsa:23676
Nucleutide sequences	EMBL-CDS: AAF19343.1, BAG35070.1, EAW98980.1, AAH05948.1, CAC08492.1, EAW98981.1 Gene_ORFName: hCG_19282 Ensembl_TRS: ENST00000494525, ENST00000379494, ENST00000646008
Protein sequencees	Ensembl_PRO: ENSP00000495170, ENSP00000368808, ENSP00000493671 RefSeq: NP_055147.1
Others	UniRef100: UniRef100_Q9UHP9 UniRef90: UniRef90_Q9UHP9 UniRef50: UniRef50_Q9DC77 UniGene: Hs.86492, Hs.734084 CCDS: CCDS14200.1

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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
31583691	In silico analysis of nonsynonymous single-nucleotide polymorphisms (nsSNPs) of the SMPX gene. Ann Hum Genet Md Arifuzzaman , Sarmistha Mitra , Raju Das , Amir Hamza , Nurul Absar , Raju Dash	2020-01-01	-
31478598	Whole-exome sequencing identifies a donor splice-site variant in SMPX that causes rare X-linked congenital deafness. Mol Genet Genomic Med Yuan Lv , Jia Gu , Hao Qiu , Huan Li , Zhitao Zhang , Shaowei Yin , Yan Mao , Lingyin Kong , Bo Liang , Hongkun Jiang , Caixia Liu	2019-11-01	-
29559740	A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family. J Hum Genet Yuyuan Deng , Zhijie Niu , LiangLiang Fan , Jie Ling , Hongsheng Chen , Xinzhang Cai , Lingyun Mei , Chufeng He , Xuewei Zhang , Jie Wen , Meng Li , Wu Li , Taoxi Li , Shushan Sang , Yalan Liu , Yong Feng	2018-06-01	-
29287879	A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss. Int. J. Pediatr. Otorhinolaryngol. Zhijie Niu , Denise Yan , Sara Bressler , Lingyun Mei , Yong Feng , Xuezhong Liu	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	-
28542515	A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family. PLoS ONE Zhijie Niu , Yong Feng , Lingyun Mei , Jie Sun , Xueping Wang , Juncheng Wang , Zhengmao Hu , Yunpeng Dong , Hongsheng Chen , Chufeng He , Yalan Liu , Xinzhang Cai , Xuezhong Liu , Lu Jiang	2017-01-01	-
27181368	The nuclear receptor NOR-1 regulates the small muscle protein, X-linked (SMPX) and myotube differentiation. Sci Rep Beatriz FerrÃ¡n , Ingrid MartÃ-PÃ mies , Judith Alonso , Ricardo RodrÃguez-Calvo , Silvia AguilÃ³ , Francisco Vidal , Cristina RodrÃguez , JosÃ© MartÃnez-GonzÃ¡lez	2016-05-16	-
24687041	X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care. Am J Audiol Susan G Stanton , Anne Griffin , Tracy L Stockley , Christine Brown , Terry-Lynn Young , Tammy Benteau , Nelly Abdelfatah	2014-06-01	SMPX, POU3F4
24936977	Overexpression of SMPX in adult skeletal muscle does not change skeletal muscle fiber type or size. PLoS ONE Einar EftestÃ¸l , Tine Norman Alver , Kristian Gundersen , Jo C Bruusgaard	2014-01-01	Smpx, SMPX
22911656	A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect. Hum. Mutat. Nelly Abdelfatah , Nancy Merner , Jim Houston , Tammy Benteau , Anne Griffin , Lance Doucette , Tracy Stockley , Julie L Lauzon , Terry-Lynn Young	2013-01-01	SMPX

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