Hs00539040_cn

• Gene Symbol: CDC42EP3
• Assay Reference Genome Location: Chr.2:37643847 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 Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CDC42EP3	NM_001270436.1	2	3159	NP_001257365.1
	NM_001270437.1	2	3115	NP_001257366.1
	NM_001270438.1	2	3091	NP_001257367.1
	NM_006449.4	2	3750	NP_006440.2
	XM_011532482.2	2	3556	XP_011530784.1
	AK055915.1	1	290
	BQ432066.1	1	623

Target Copy Number Variation Details

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

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

More Information

• Set Membership: Intragenic, 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