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

Homo sapiens

Also known as PIKE; GGAP2; CENTG1

Gene ID: 116986 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATP binding	IDA IDA: Inferred from direct assay	11136977	GOA
enables GTP binding	IDA IDA: Inferred from direct assay	11136977	GOA
enables GTPase activator activity	IDA IDA: Inferred from direct assay	1238857	GOA
enables GTPase activity	IDA IDA: Inferred from direct assay	11136977	GOA
enables phosphatidylinositol 3-kinase regulator activity	IDA IDA: Inferred from direct assay	11136977	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20075866	GOA
enables protein kinase activator activity	IDA IDA: Inferred from direct assay	14761976	GOA
enables protein kinase binding	IDA IDA: Inferred from direct assay	14761976	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within actin cytoskeleton organization	IDA IDA: Inferred from direct assay	12388557	GOA
acts upstream of or within endosomal transport	IDA IDA: Inferred from direct assay	12388557	GOA
acts upstream of or within negative regulation of neuron apoptotic process	IGI IGI: Inferred from genetic interaction	18374643	GOA
acts upstream of or within negative regulation of protein catabolic process	IDA IDA: Inferred from direct assay	18374643	GOA
acts upstream of or within positive regulation of protein kinase activity	IDA IDA: Inferred from direct assay	14761976	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	14761976	GOA
located in endosome	IDA IDA: Inferred from direct assay	12388557	GOA
located in nucleus	IDA IDA: Inferred from direct assay	14761976	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AGAP2 Protein Structure

Roc

ArfGap

Ank_2

0
200
400
600
800
1000
1192 a.a.

Protein Preferred Names

Protein Names

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

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00438	AGAP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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