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  2. SYT12 - synaptotagmin 12 Gene

SYT12 - synaptotagmin 12 Gene

中文名称:突触结合蛋白 12

种属: Homo sapiens

同用名: SYT11; sytXII

基因 ID: 91683 | 基因类型: protein coding

关于 SYT12

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:67,006,771-67,050,863 (from NCBI)

This gene has 7 transcripts (splice variants), 191 orthologues and 31 paralogues. Biased expression in brain (RPKM 5.6), liver (RPKM 2.3) and 5 other tissues.

功能概要

该基因是突触结合蛋白基因家族的成员,编码的蛋白质与其他家族成员相似,介导突触传递中膜运输的钙依赖性调节。对大鼠直系同源基因的研究表明,编码的蛋白质选择性地调节自发的突触小泡胞吐作用,并且还可能参与调节非神经元细胞中的钙非依赖性分泌。可变剪接导致多个转录本变体。该基因以前被称为突触结合蛋白 XI,但已更名为突触结合蛋白 XII,以符合小鼠和大鼠官方命名法的标准。[RefSeq 提供,2010 年 4 月]

This gene is a member of the synaptotagmin gene family and encodes a protein similar to Other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. Studies of the orthologous gene in rat have shown that the encoded protein selectively modulates spontaneous synaptic-vesicle exocytosis and may also be involved in regulating calcium independent secretion in nonneuronal cells. Alternative splicing results in multiple transcript variants. The gene has previously been referred to as synaptotagmin XI but has been renamed synaptotagmin XII to be standard with mouse and rat official nomenclature.[provided by RefSeq, Apr 2010]

SYT12 基因产物(4)

mRNA Protein Name
NM_001177880.2 NP_001171351.1 synaptotagmin-12 isoform a
NM_001318773.2 NP_001305702.1 synaptotagmin-12 isoform b
NM_001318775.2 NP_001305704.1 synaptotagmin-12 isoform b
NM_177963.4 NP_808878.1 synaptotagmin-12 isoform a

SYT12 蛋白结构

C2

C2: C2 domain (169 - 254)

C2

C2: C2 domain (300 - 387)

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

synaptotagmin-12

synaptotagmin-XII

关联疾病

疾病名称 别名
Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

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
Felis catus SYT12 VGNC VGNC:65894
Macaca mulatta SYT12 VGNC VGNC:78159
Mus musculus SYT12 MGD MGI:2159601
Canis familiaris SYT12 VGNC VGNC:47043
Bos taurus SYT12 VGNC VGNC:35538
Rattus norvegicus SYT12 RGD RGD:621876