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6813 STXBP2

6813

STXBP2

syntaxin binding protein 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition syntaxin binding protein 2

研究结论

Date Results Publications
2021-01-02 12:48:00 Different Clinical Presentation of 3 Children With Familial Hemophagocytic Lymphohistiocytosis With 2 Novel Mutations. 31651726
2019-05-11 11:49:00 In the current study, we have made the unexpected observation that congenital deficiency of the STXBP2 protein may also affect the expression of STXBP1. Further analysis identified an unsuspected functional role for STXBP1 in secretory granule-mediated NK and T-cell cytotoxicity. 29599780
2019-05-04 10:19:00 Loss of Munc18-2/Stxbp2 recapitulated the pathologic features observed in patients with MUNC18-2 deficiency. 30364784
2018-08-11 10:11:00 Neonatal platelets exhibit low levels of the Stx11-Munc18b complex (essential component of the SNARE machinery) and of beta1-tubulin. These developmental deficiencies are associated with defects in platelet adhesion, spreading and secretion. 29044293
2018-03-10 11:38:00 Among these nine polymorphisms, rs188212047 [G/T (L212F)] of STXBP2 was significantly (dominant model; P = 4.84 x 10-8; odds ratio, 2.94) associated with myocardial infarction. STXBP2 may thus be a novel susceptibility locus for myocardial infarction in Japanese. 28380445

名称对应

Type IDs
Synonymous FHL5, Hunc18b, MUNC18-2, UNC18-2, UNC18B, pp10122
Gene
UniProtKB-ID: STXB2_HUMAN, Q53GF4_HUMAN
UniprotKB: Q15833, Q53GF4
UniParc: UPI0001AE6405, UPI0000070E86, UPI000013C7B8, UPI000050A82C
EMBL: BC002869, AK222977, AK303701, CH471139, U63533, AC008763, BT006915, AK222967
Ensembl: ENSG00000076944
KO: hsa:6813
Nucleutide sequences
EMBL-CDS: AAC50762.1, EAW69018.1, BAG64687.1, AAH02869.1, AAP35561.1, BAD96697.1, BAD96687.1
Ensembl_TRS: ENST00000414284, ENST00000441779, ENST00000221283
Protein sequencees
Ensembl_PRO: ENSP00000413606, ENSP00000221283, ENSP00000409471
RefSeq: XP_011526512.1, NP_001120868.1, NP_001258963.1, NP_008880.2, XP_011526514.1
Others
UniRef100: UniRef100_Q53GF4, UniRef100_Q15833
UniRef90: UniRef90_Q15833
UniRef50: UniRef50_Q15833
UniGene: Hs.515104
CCDS: CCDS62522.1, CCDS12181.1, CCDS45948.1

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