1. Gene
  2. AGAP2 - ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 Gene

AGAP2 - ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 Gene

中文名称:具有 GTPase 结构域、锚蛋白重复序列和 PH 结构域 2 的 ArfGAP

种属: Homo sapiens

同用名: PIKE; GGAP2; CENTG1

基因 ID: 116986 | 基因类型: protein coding

关于 AGAP2

Cytogenetic location: 12q14.1 Genomic coordinates (GRCh38): 12:57,723,761-57,742,161 (from NCBI)

This gene has 4 transcripts (splice variants), 260 orthologues and 28 paralogues. Biased expression in brain (RPKM 36.4), lymph node (RPKM 4.9) and 4 other tissues.

功能概要

该基因编码的蛋白质属于类半人马座蛋白家族。它通过激活核磷酸肌醇 3-激酶介导神经生长因子的抗凋亡作用。它在癌细胞中过度表达,促进癌细胞侵袭。已经针对该基因描述了编码不同亚型的选择性剪接转录物变体。[RefSeq 提供,2011 年 8 月]

The protein encoded by this gene belongs to the centaurin gamma-like family. It mediates anti-apoptotic effects of nerve growth factor by activating nuclear phosphoinositide 3-kinase. It is overexpressed in Cancer cells, and promotes Cancer cell invasion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

AGAP2 基因产物(2)

mRNA Protein Name
NM_001122772.3 NP_001116244.1 arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 isoform PIKE-L
NM_014770.4 NP_055585.1 arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 isoform PIKE-A
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 ATP binding IDA
IDA: 通过直接分析推断
11136977 GOA
enables GTP binding IDA
IDA: 通过直接分析推断
11136977 GOA
enables GTPase activator activity IDA
IDA: 通过直接分析推断
1238857 GOA
enables GTPase activity IDA
IDA: 通过直接分析推断
11136977 GOA
enables phosphatidylinositol 3-kinase regulator activity IDA
IDA: 通过直接分析推断
11136977 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20075866 GOA
enables protein kinase activator activity IDA
IDA: 通过直接分析推断
14761976 GOA
enables protein kinase binding IDA
IDA: 通过直接分析推断
14761976 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
14761976 GOA
located in endosome IDA
IDA: 通过直接分析推断
12388557 GOA
located in nucleus IDA
IDA: 通过直接分析推断
14761976 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

AGAP2 蛋白结构

Roc

Roc: Ras of Complex, Roc, domain of DAPkinase (408 - 517)

PH

PH: PH domain (678 - 907)

ArfGap

ArfGap: Putative GTPase activating protein for Arf (933 - 1044)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (1058 - 1148)

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  • 1192 a.a.
蛋白主名 其他名称

arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2

Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 2

AGAP2 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
AGAP2 Q99490 INSR Homo sapiens P06213
Pull Down
21720388
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
Fragile X Syndrome

FXS

Martin-Bell Syndrome

Fraxa Syndrome

Marker X Syndrome

X-Linked Mental Retardation And Macroorchidism

Fragile X Mental Retardation Syndrome

Fra Syndrome

Mental Retardation, X-Linked, Associated With Marxq28

X-Linked Intellectual Disability And Macroorchidism

Frax Syndrome

Symptomatic Form Of Fragile X Syndrome In Female Carriers

Fragile-X Syndrome

Fraxe Syndrome

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 AGAP2 VGNC VGNC:25720
Macaca mulatta AGAP2 VGNC VGNC:69620
Mus musculus AGAP2 MGD MGI:3580016
Rattus norvegicus AGAP2 RGD RGD:628844
Canis familiaris AGAP2 VGNC VGNC:108200
Felis catus AGAP2 VGNC VGNC:59674