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10497 UNC13B

10497

UNC13B

unc-13 homolog B

protein-coding

Homo sapiens

基因描述

Type Description
Definition unc-13 homolog B

研究结论

Date Results Publications
2020-06-27 11:50:00 TRPC6 exocytosis by targeting to the C1 domain of Munc13-2. 32134975
2020-03-28 10:47:00 There were no significant differences in the distribution of allele or genotype frequencies in the five UNC13B SNP markers (rs13293564, rs17360668, rs10114937, rs661712, and rs2281999) between the Diabetic Kidney Disease group and control group of patients with type 2 diabetes mellitus . 31713534
2019-09-21 12:19:00 Abnormal splicing mutation in UNC13B was identified in the patient with bipolar disorder. 30117296
2019-02-09 11:42:00 Assisted by NSF/alpha-SNAP, syntaxin-1 escapes tomosyn arrest and assembles into the Munc18-1/syntaxin-1 complex. Munc13-1 then catalyzes the transit of syntaxin-1 from the Munc18-1/syntaxin-1 complex to the SNARE complex 29485200
2017-09-23 12:29:00 A rare missense variation (V1525M) in UNC13B was identified by WES in the multiplex family; this variation was present in five of six affected individuals, but not in eight unaffected individuals or one individual of unknown disease status. Resequencing UNC13B coding regions identified five rare missense variations (T103M, M813T, P1349T, I1362T, and V1525M). 26990377

名称对应

Type IDs
Synonymous MUNC13, UNC13, Unc13h2
Gene
UniProtKB-ID: UN13B_HUMAN, Q4LE73_HUMAN
UniprotKB: O14795, Q4LE73
UniParc: UPI000054C910, UPI0001EECD79, UPI0000211336
EMBL: AF020202, AL354669, AB209998, AL160274, CH471071, BC111781, AL353795
Ensembl: ENSG00000198722
KO: hsa:10497
Nucleutide sequences
EMBL-CDS: AAC19406.1, AAI11782.1, EAW58383.1, BAE06080.1
Ensembl_TRS: ENST00000378495, ENST00000619578
Protein sequencees
Ensembl_PRO: ENSP00000479261, ENSP00000367756
RefSeq: NP_001374482.1, XP_016869681.1, NP_001358115.1, NP_001317582.1, NP_001358117.1, NP_001374480.1, NP_001358118.1, XP_011515988.1, NP_006368.3, NP_001358116.1, XP_011515985.1, NP_001374483.1, NP_001374484.1
Others
UniRef100: UniRef100_O14795, UniRef100_Q4LE73
UniRef90: UniRef90_O14795, UniRef90_Q4LE73
UniRef50: UniRef50_O14795, UniRef50_O14795-2
UniGene: Hs.493791
CCDS: CCDS83361.1, CCDS6579.1

全选

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