Hs04701360_cn

• Gene Symbol: CDC42EP3
• Assay Reference Genome Location: Chr.2:37663481 on build GRCh38
• Cytoband: 2p22.2

Target Gene Details

• Entrez Gene ID: 10602
• Gene Name: CDC42 effector protein 3
• Gene Aliases: BORG2, CEP3, UB1
• Location: Chr.2:37641882-37672535 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CDC42EP3	NM_001270436.1			NP_001257365.1
	NM_001270437.1			NP_001257366.1
	NM_001270438.1			NP_001257367.1
	NM_006449.4			NP_006440.2
	AK128735.1
	AK313483.1
	AL136842.1			CAB66776.1
	AL538577.3
	BC019270.1			AAH19270.1
	BQ067953.1
	DB121680.1
	HY003915.1
	HY017509.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv998567	Chr.2:37659101 - 37683484 on Build GRCh38	Gain	CDC42EP3
nsv833825	Chr.2:37581026 - 37758774 on Build GRCh38	Gain	CDC42EP3
esv2759043	Chr.2:37569511 - 37911796 on Build GRCh38	Gain+Loss	LINC00211 CDC42EP3

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

signal transduction
Rho protein signal transduction
regulation of cell shape
positive regulation of actin filament polymerization
positive regulation of pseudopodium assembly
positive regulation of GTPase activity

Function(s)

GTPase activator activity
cytoskeletal regulatory protein binding
GTP-Rho binding