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  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

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

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