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774 CACNA1B

774

CACNA1B

calcium voltage-gated channel subunit alpha1 B

protein-coding

Homo sapiens

基因描述

Type Description
Definition calcium voltage-gated channel subunit alpha1 B

研究结论

Date Results Publications
2020-02-08 11:53:00 Bi-allelic Loss-of-Function CACNA1B Mutations are associated with Progressive Epilepsy-Dyskinesia. 30982612
2018-05-05 12:20:00 Cav2.2 alpha1 subunit alone could form a complex with the AMPAR in heterologous cells. The cell-surface AMPAR was increased by co-expression of Cav2.2 alpha1 subunit. 29448101
2017-02-18 10:23:00 CACNA1B protein expressions in tumorous tissues were correlated with NSCLC patients' clinical characteristics and overall survival. CACNA1B mRNA and protein expression levels were higher in NSCLC tumorous tissues than in nontumorous tissues. 28127114
2016-06-04 12:10:00 These results do not support a causal association between the CACNA1B c.4166G>A; (p.R1389H) variant and M-D. 26157024
2016-04-23 11:38:00 the consensus motifs of S-nitrosylation were much more abundant in Cav2.2 than in Cav1.2 and Cav2.1. 26507659

名称对应

Type IDs
Synonymous BIII, CACNL1A5, CACNN, Cav2.2, DYT23
Gene
UniProtKB-ID: CAC1B_HUMAN
UniprotKB: Q00975
UniParc: UPI0000127267, UPI0000470351
EMBL: M94173, U76666, M94172, AL772363, AL591424
Ensembl: ENSG00000148408
KO: hsa:774
Nucleutide sequences
EMBL-CDS: AAA51897.1, AAA51898.1, AAC51138.1
Ensembl_TRS: ENST00000371372, ENST00000277551
Protein sequencees
Ensembl_PRO: ENSP00000360423, ENSP00000277551
RefSeq: NP_000709.1, NP_001230741.1
Others
UniRef100: UniRef100_Q00975
UniRef90: UniRef90_Q00975
UniRef50: UniRef50_O55017
UniGene: Hs.495522
CCDS: CCDS59523.1, CCDS59522.1

全选

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