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

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

AGAP2 Protein Structure

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.
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

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