Hs02429478_cn

• Gene Symbol: AGAP2
• Assay Reference Genome Location: Chr.12:57725876 on build GRCh38
• Cytoband: 12q14.1

Target Gene Details

• Entrez Gene ID: 116986
• Gene Name: ArfGAP with GTPase domain, ankyrin repeat and PH domain 2
• Gene Aliases: CENTG1, GGAP2, PIKE
• Location: Chr.12:57723765-57742201 on Build GRCh38
• Assay Gene Location: Within Exon 20

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AGAP2	NM_001122772.2	19	4255	NP_001116244.1
	NM_014770.3	18	3277	NP_055585.1
	XM_005268625.3	18	4321	XP_005268682.1
	XM_005268626.2	19	3377	XP_005268683.1
	XM_017018772.1	19	4382	XP_016874261.1
	AF384128.1	18	3273	AAO39848.1
	D79989.1	18	3275

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv559045	Chr.12:57718406 - 57771302 on Build GRCh38	Loss	MARCH9 AGAP2-AS1 TSPAN31 CDK4 AGAP2 CYP27B1 OS9 METTL1 MIR6759
nsv826383	Chr.12:57724297 - 57729864 on Build GRCh38	Gain	AGAP2-AS1 AGAP2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

small GTPase mediated signal transduction
protein transport
negative regulation of protein catabolic process
negative regulation of neuron apoptotic process
positive regulation of GTPase activity

Function(s)

GTPase activator activity
protein binding
GTP binding
metal ion binding