CHRND - cholinergic receptor nicotinic delta subunit-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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1144 CHRND

基因描述

Type	Description
Definition	cholinergic receptor nicotinic delta subunit

研究结论

Date	Results	Publications
2020-06-27 11:53:00	child was diagnosed with slow-channel congenital myasthenic syndrome (SCCMS) type 3A caused by heterozygous variant of the CHRND gene	32335884
2016-07-16 11:28:00	Data suggest mutation in invariant Cys-loop of CHRND (D140N) observed in muscle of one patient (11 y/o girl) with congenital myasthenia (w/ severe muscle weakness) alters conformation of ligand/acetylcholine binding site and receptor functionality.	26698174
2014-10-04 10:58:00	This study showed that a single mutation of the delta subunit, L332P, allows the synapse in slow muscles to function but renders those in fast muscles almost nonfunctional.	25080583
2014-03-22 10:06:00	These findings identify novel Golgi retention signals in the beta and delta subunit loops that regulate surface trafficking of assembled AChR and may help prevent surface expression of unassembled subunits.	24240098
2013-09-14 12:08:00	No mutations were found in CHRNG, CHRND and CHRNA1 genes of Indian families with Escobar syndrome.	23448903

名称对应

Type	IDs
Synonymous	ACHRD, CMS2A, CMS3A, CMS3B, CMS3C, FCCMS, SCCMS
Gene	UniProtKB-ID: ACHD_HUMAN, B4E3W4_HUMAN UniprotKB: Q07001, B4E3W4 UniParc: UPI000012525E, UPI00017A88E8, UPI00017A7B61 EMBL: AK291526, AK304890, AC092165, BC093923, AK300109, CH471063, AK315297, X55019, BC093925 Ensembl: ENSG00000135902 KO: hsa:1144
Nucleutide sequences	EMBL-CDS: AAH93923.1, AAH93925.1, BAF84215.1, CAA38759.1, EAW71003.1, AAY24102.1, BAG37703.1, BAG61904.1, BAG65626.1 Ensembl_TRS: ENST00000543200, ENST00000258385
Protein sequencees	Ensembl_PRO: ENSP00000438380, ENSP00000258385 RefSeq: NP_001243586.1, XP_011508826.1, NP_000742.1, NP_001298125.1, NP_001298124.1
Others	UniRef100: UniRef100_B4E3W4, UniRef100_Q07001 UniRef90: UniRef90_B4E3W4, UniRef90_Q07001 UniRef50: UniRef50_Q07001, UniRef50_A0A2Y9QAW4 UniGene: Hs.156289 CCDS: CCDS58754.1, CCDS2494.1

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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
32335884	[Clinical and genetic analysis of a patient with slow-channel congenital myasthenic syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi Yong Liu , Shuxin Ye , Haiyan Zhang , Kaihui Zhang , Yuqiang Lyu , Min Gao , Zhongtao Gai , Yi Liu	2020-05-10	-
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	-
26698174	Investigation of Congenital Myasthenia Reveals Functional Asymmetry of Invariant Acetylcholine Receptor (AChR) Cys-loop Aspartates. J Biol Chem Xin-Ming Shen , Joan Brengman , David Neubauer , Steven M Sine , Andrew G Engel	2016-02-12	-
25080583	A single mutation in the acetylcholine receptor Î´-subunit causes distinct effects in two types of neuromuscular synapses. J. Neurosci. Jee-Young Park , Meghan Mott , Tory Williams , Hiromi Ikeda , Hua Wen , Michael Linhoff , Fumihito Ono	2014-07-30	chrna1, chrng, chrnd, chrne, CHRND
24240098	Determinants in the Î² and Î´ subunit cytoplasmic loop regulate Golgi trafficking and surface expression of the muscle acetylcholine receptor. J Biol Chem Jolene Chang Rudell , Lucia S Borges , John B Rudell , Kenneth A Beck , Michael J Ferns	2014-01-03	-
23448903	Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome. Clin. Dysmorphol. Srinivas G Kodaganur , Sagar J Tontanahal , Astha Sarda , Mohd H Shah , Vishwanath Bhat , Arun Kumar	2013-04-01	CHRNA1, CHRND, CHRNG
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	-
20734064	A large-scale candidate gene association study of age at menarche and age at natural menopause. Hum. Genet. Chunyan He , Peter Kraft , Daniel I Chasman , Julie E Buring , Constance Chen , Susan E Hankinson , Guillaume ParÃ© , Stephen Chanock , Paul M Ridker , David J Hunter	2010-11-01	PPIF, GDF11, FST, LEFTY1, SLC12A7, CGA, ADAMTS13, SLC2A6, CHRNA1, CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA7, CHRNB1, CHRNB2, CHRNB3, CHRNB4, CHRND, CHRNE, CHRNG, CCR3, NLRP5, CNR1, PROKR2, ACVR1C, COMT, CRHR1, CRHR2, MAPK14, EME1, GDF7, SLC2A12, ADRB2, CYP1A1, CYP1A2, CYP1B1, CYP2A6, CYP2B6, GRK3, CYP3A4, CYP11A1, CYP17A1, CYP19A1, DBH, ACE, CITED4, DDC, AKR1C2, DIAPH2, DRD1, DRD2, DRD3, DRD5, AGT, ECT2, EML1, AKT1, ESR1, ESR2, F2, F5, ALDH1B1, FGFR1, FMO1, FMO3, FMR1, AFF2, LEPROTL1, FSHB, FSHR, ANKK1, PCSK9, GABRB2, GALT, FGFR1OP2, GDF1, GDF2, MSTN, GDF9, GDF10, AMH, GH1, GHR, GHRH, AMHR2, GHRHR, BMP10, GNB3, GNRH1, GNRHR, MCHR1, NR3C1, HBE1, HIVEP1, AIRE, HSD3B1, HSD3B2, HSD17B1
20840187	Peer smoking and the nicotinic receptor genes: an examination of genetic and environmental risks for nicotine dependence. Addiction Eric O Johnson , Li-Shiun Chen , Naomi Breslau , Dorothy Hatsukami , Tania Robbins , Nancy L Saccone , Richard A Grucza , Laura J Bierut	2010-11-01	-
20584212	Multiple cholinergic nicotinic receptor genes affect nicotine dependence risk in African and European Americans. Genes Brain Behav. N L Saccone , T-H Schwantes-An , J C Wang , R A Grucza , N Breslau , D Hatsukami , E O Johnson , J P Rice , A M Goate , L J Bierut	2010-10-01	-

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