Hs00343085_cn

• Gene Symbol: NGEF
• Assay Reference Genome Location: Chr.2:232881165 on build GRCh38
• Cytoband: 2q37.1

Target Gene Details

• Entrez Gene ID: 25791
• Gene Name: neuronal guanine nucleotide exchange factor
• Gene Aliases: ARHGEF27, EPHEXIN
• Location: Chr.2:232878686-233013241 on Build GRCh38
• Assay Gene Location: Overlaps Intron 17 - Exon 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NGEF	NM_001114090.1			NP_001107562.1
	NM_019850.2			NP_062824.2
	XM_011510923.2			XP_011509225.1
	XM_011510924.1			XP_011509226.1
	XM_011510925.1			XP_011509227.1
	AK293203.1
	AK297390.1
	AK298315.1
	AK300953.1
	BC031573.1			AAH31573.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv4188n100	Chr.2:232868642 - 232895809 on Build GRCh38	Gain	NGEF C2orf82
nsv953203	Chr.2:232867891 - 232898190 on Build GRCh38	Deletion	NGEF C2orf82
nsv1009825	Chr.2:232844856 - 232898760 on Build GRCh38	Gain	NGEF C2orf82 GIGYF2
nsv834570	Chr.2:232774450 - 232940357 on Build GRCh38	Gain	KCNJ13 NGEF C2orf82 GIGYF2

More Information

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

Panther Classification:

Molecular Function -

guanyl-nucleotide exchange factor

Gene Ontology Categories:

Process(es)

regulation of Rho protein signal transduction
positive regulation of apoptotic process
regulation of GTPase activity
positive regulation of GTPase activity
ephrin receptor signaling pathway
regulation of small GTPase mediated signal transduction
negative regulation of dendritic spine morphogenesis

Function(s)

guanyl-nucleotide exchange factor activity
Rho guanyl-nucleotide exchange factor activity