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  2. SYT8 - synaptotagmin 8 Gene

SYT8 - synaptotagmin 8 Gene

中文名称:突触结合蛋白 8

种属: Homo sapiens

基因 ID: 90019 | 基因类型: protein coding

关于 SYT8

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:1,831,784-1,837,521 (from NCBI)

This gene has 14 transcripts (splice variants), 1 gene allele, 175 orthologues and 31 paralogues. Biased expression in skin (RPKM 28.8), urinary bladder (RPKM 7.9) and 5 other tissues.

功能概要

该基因编码突触结合蛋白家族的一个成员。突触结合蛋白是在神经传递和激素分泌中很重要的膜蛋白,这两者都涉及受调节的胞吐作用。已编码蛋白质在人胰岛中的表达与胰岛素基因启动子的活性有关,该启动子位于相距数百千碱基的同一染色体上 (PMID:21336277 和 22928559) 。这种关联会将对葡萄糖醛酸的反应与胰岛素分泌联系起来。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2014 年 3 月]

This gene encodes a member of the synaptotagmin protein family. Synaptotagmins are membrane proteins that are important in neurotransmission and hormone secretion, both of which involve regulated exocytosis. Expression of the encoded protein in human pancreatic islets has been connected to activity of the promoter for the Insulin gene, on the same chromosome several hundred kilobases away (PMID: 21336277 and 22928559). This association would link response to gluclose to Insulin secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

SYT8 基因产物(5)

mRNA Protein Name
NM_001290332.2 NP_001277261.2 synaptotagmin-8 isoform 1
NM_001290333.2 NP_001277262.2 synaptotagmin-8 isoform 3
NM_001290334.2 NP_001277263.2 synaptotagmin-8 isoform 4
NM_001394072.1 NP_001381001.1 synaptotagmin-8 isoform 5
NM_138567.5 NP_612634.4 synaptotagmin-8 isoform 2

SYT8 蛋白结构

C2

C2: C2 domain (135 - 216)

C2

C2: C2 domain (262 - 345)

  • 0
  • 100
  • 200
  • 300
  • 401 a.a.
蛋白主名 其他名称

synaptotagmin-8

synaptotagmin VIII

关联疾病

疾病名称 别名
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Lgmd2b

Lgmd3

Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

Limb-Girdle Muscular Dystrophy Type 3

Muscular Dystrophy, Limb-Girdle, Type 2b

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta SYT8 VGNC VGNC:78168
Canis familiaris SYT8 VGNC VGNC:47051
Mus musculus SYT8 MGD MGI:1859867
Rattus norvegicus SYT8 RGD RGD:68399
Bos taurus SYT8 VGNC VGNC:56284
Felis catus SYT8 VGNC VGNC:65903