1. Gene
  2. STON2 - stonin 2 Gene

STON2 - stonin 2 Gene

中文名称:石宁 2

种属: Homo sapiens

同用名: STN2; STNB; STNB2

基因 ID: 85439 | 基因类型: protein coding

关于 STON2

Cytogenetic location: 14q31.1 Genomic coordinates (GRCh38): 14:81,260,652-81,436,465 (from NCBI)

This gene has 9 transcripts (splice variants), 165 orthologues and 7 paralogues. Broad expression in brain (RPKM 5.7), spleen (RPKM 3.8) and 19 other tissues.

功能概要

该基因编码一种蛋白质,该蛋白质是一种参与调节内吞复合物的膜蛋白。蛋白质产物被描述为网格蛋白相关分选蛋白之一,是确保特定蛋白质被内化的衔接分子。编码的蛋白质还显示通过与神经传递所需的突触结合蛋白 1 的相互作用参与突触小泡循环。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2012 年 1 月]

This gene encodes a protein which is a membrane protein involved in regulating endocytotic complexes. The protein product is described as one of the clathrin-associated sorting proteins, adaptor molecules which ensure specific proteins are internalized. The encoded protein has also been shown to participate in synaptic vesicle recycling through interaction with synaptotagmin 1 required for neurotransmission. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

STON2 基因产物(4)

mRNA Protein Name
NM_001256430.3 NP_001243359.1 stonin-2 isoform 2
NM_001366849.2 NP_001353778.1 stonin-2 isoform 3
NM_001366850.2 NP_001353779.1 stonin-2 isoform 4
NM_001394390.1 NP_001381319.1 stonin-2 isoform 5
基因本体论
  • 分子功能
  • 生物过程
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
11454741 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in synaptic vesicle endocytosis IGI
IGI: 通过遗传相互作用推断
21102408 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

STON2 蛋白结构

Stonin2_N

Stonin2_N: Stonin 2 (1 - 340)

Adap_comp_sub

Adap_comp_sub: Adaptor complexes medium subunit family (559 - 872)

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

stonin-2

stoned B homolog 2

STON2 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
Intra STON2 Q8WXE9 EPS15 Homo sapiens P42566
NMR
18200045
Intra STON2 Q8WXE9 EPS15 Homo sapiens P42566
ITC
18200045
Intra STON2 Q8WXE9 EPS15 Homo sapiens P42566
Anti Bait CoIP
18200045
Cross STON2 Q8WXE9 Syt1 Rattus norvegicus P21707
Pull Down
11454741
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
Keratoconus

Kc

Conical Cornea

Noninflammatory Corneal Thining

Bulging Cornea

Cornea Conical

Acquired Conus Of Cornea

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
Mus musculus STON2 MGD MGI:1918272
Rattus norvegicus STON2 RGD RGD:1311502
Macaca mulatta STON2 VGNC VGNC:78249
Bos taurus STON2 VGNC VGNC:35413
Felis catus STON2 VGNC VGNC:65796
Canis familiaris STON2 VGNC VGNC:46933