1. Gene
  2. EXOC2 - exocyst complex component 2 Gene

EXOC2 - exocyst complex component 2 Gene

中文名称:exocyst 复杂组件 2

种属: Homo sapiens

同用名: SEC5; Sec5p; SEC5L1; NEDFACH

基因 ID: 55770 | 基因类型: protein coding

关于 EXOC2

Cytogenetic location: 6p25.3 Genomic coordinates (GRCh38): 6:485,154-693,139 (from NCBI)

This gene has 3 transcripts (splice variants), 212 orthologues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 4.7), thyroid (RPKM 3.9) and 25 other tissues.

功能概要

由该基因编码的蛋白质是胞吐复合物的一个组成部分,胞吐复合物是一种多蛋白复合物,对于胞吐囊泡极化靶向质膜上的特定停靠位点至关重要。尽管在酵母中得到了最好的表征,但已证明 exocyst 复合体的组成蛋白和功能在高等真核生物中高度保守。发现 exocyst 复合物的至少八种成分 (包括这种蛋白质) 与肌动蛋白细胞骨架重塑和囊泡转运机制相互作用。这种相互作用已被证明可以介导成纤维细胞中丝状伪足的形成。这种蛋白质已被证明与 GTP 酶的 Ral 亚家族相互作用,从而通过将囊泡束缚在质膜上来介导胞吐作用。可变剪接导致多个转录本变体。[RefSeq 提供,2012 年 7 月]

The protein encoded by this gene is a component of the exocyst complex, a multi-protein complex essential for the polarized targeting of exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and the functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. This interaction has been shown to mediate filopodia formation in fibroblasts. This protein has been shown to interact with the Ral subfamily of GTPases and thereby mediate exocytosis by tethering vesicles to the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

EXOC2 基因产物(1)

mRNA Protein Name
NM_018303.6 NP_060773.3 exocyst complex component 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
12459492 GOA
enables protein kinase binding IPI
IPI: 通过物理相互作用推断
24056301 GOA
enables small GTPase binding IPI
IPI: 通过物理相互作用推断
24056301 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Golgi to plasma membrane transport IMP
IMP: 通过突变表型推断
32639540 GOA
involved in regulation of entry of bacterium into host cell IMP
IMP: 通过突变表型推断
20579884 GOA
involved in vesicle docking involved in exocytosis IDA
IDA: 通过直接分析推断
12459492 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of exocyst IDA
IDA: 通过直接分析推断
24056301 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

EXOC2 蛋白结构

TIG

TIG: IPT/TIG domain (8 - 90)

Sec5

Sec5: Exocyst complex component Sec5 (200 - 377)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 924 a.a.
蛋白主名 其他名称

exocyst complex component 2

SEC5-like 1

EXOC2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
EXOC2 Q96KP1 EXOC1 Homo sapiens Q9NV70
TAP
27173435
种属内
EXOC2 Q96KP1 EXOC1 Homo sapiens Q9NV70 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia

NEDFACH

Ventricular Septal Defect

Ventricular Septal Defects

Interventricular Septal Defect

Heart Septal Defects, Ventricular

Ventricular Septal Abnormality

Interventricular Septum Defect

Ventricular Septum Defect

Vsd - [Ventricular Septum Defect]

Congenital Ventricular Septal Defect

Single Ventricular Septal Defect

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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
Bos taurus EXOC2 VGNC VGNC:28644
Mus musculus EXOC2 MGD MGI:1913732
Macaca mulatta EXOC2 VGNC VGNC:72338
Felis catus EXOC2 VGNC VGNC:61998
Rattus norvegicus EXOC2 RGD RGD:619961
Canis familiaris EXOC2 VGNC VGNC:40513