Hs03418697_cn

• Gene Symbol: ARHGEF4
• Assay Reference Genome Location: Chr.2:130845182 on build GRCh38
• Cytoband: 2q21.1

Target Gene Details

• Entrez Gene ID: 50649
• Gene Name: Rho guanine nucleotide exchange factor 4
• Gene Aliases: ASEF, ASEF1, GEF4, STM6
• Location: Chr.2:130836916-131047253 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ARHGEF4	XM_005263681.1			XP_005263738.1
	XM_005263685.3			XP_005263742.1
	XM_011511274.2			XP_011509576.1
	XM_017004231.1			XP_016859720.1
	AK127124.1

Target Gene Details

• Entrez Gene ID: 653269
• Gene Name: POTE ankyrin domain family member I
• Gene Aliases: POTE2beta
• Location: Chr.2:130462245-131626428 on Build GRCh38
• Assay Gene Location:

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
POTEI

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv4074n100	Chr.2:130550793 - 131291209 on Build GRCh38	Gain	TISP43 POTEJ ARHGEF4 POTEE PLEKHB2 GPR148 CFC1 CYP4F30P AMER3 POTEI LOC440910 FAM168B
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	ARHGEF4 POTEE PLEKHB2 GPR148 CYP4F30P AMER3 POTEI LOC440910 FAM168B
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	POTEJ POTEE GPR148 CCDC74A LOC440910 ARHGEF4 POTEKP LOC150776 PLEKHB2 MIR4784 CYP4F30P AMER3 POTEI NOC2LP2 TUBA3D MZT2A FAM168B WTH3DI LINC01120
nsv583136	Chr.2:130730100 - 130846832 on Build GRCh38	Loss	ARHGEF4 GPR148 AMER3 POTEI
nsv1014723	Chr.2:130720375 - 131379551 on Build GRCh38	Loss	ARHGEF4 POTEE PLEKHB2 GPR148 AMER3 POTEI LOC440910 FAM168B WTH3DI
nsv2925	Chr.2:130841107 - 130887218 on Build GRCh38	Deletion	ARHGEF4 POTEI
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	ARHGEF4 PLEKHB2 GPR148 AMER3 POTEI FAM168B
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	ARHGEF4 POTEE PLEKHB2 GPR148 CYP4F30P AMER3 POTEI LOC440910 FAM168B
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	ARHGEF4 PLEKHB2 GPR148 AMER3 POTEI FAM168B
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	POTEE GPR148 CCDC74A LOC440910 ARHGEF4 LOC150776 PLEKHB2 MIR4784 AMER3 POTEI NOC2LP2 TUBA3D MZT2A FAM168B WTH3DI LINC01120
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	POTEJ POTEE GPR148 LOC440910 ARHGEF4 LOC150776 PLEKHB2 MIR4784 CYP4F30P AMER3 POTEI NOC2LP2 TUBA3D MZT2A FAM168B WTH3DI LINC01120
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	TISP43 SMPD4 RAB6C GPR148 LOC389033 LOC646743 MZT2B CFC1B LOC100507460 NOC2LP1 PTPN18 MZT2A FAM168B POTEF POTEE FAR2P2 CCDC115 RAB6C-AS1 ANKRD30BL POTEKP IMP4 LOC150776 CFC1 CYP4F30P LINC01087 LOC101927924 LOC107985778 POTEJ LOC440910 GPR39 CYP4F62P MIR4784 AMER3 POTEI FAM201B NOC2LP2 TUBA3D WTH3DI MED15P9 CCDC74A TUBA3E CCDC74B MIR663B C2orf27A C2orf27B ARHGEF4 ZNF806 PLEKHB2 FAR2P1 LINC01120
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	TISP43 POTEJ SMPD4 RAB6C GPR148 LOC389033 LOC646743 MZT2B CYP4F62P CFC1B NOC2LP1 AMER3 POTEI PTPN18 POTEF FAR2P2 MED15P9 CCDC115 TUBA3E CCDC74B RAB6C-AS1 ARHGEF4 IMP4 CFC1 FAR2P1 CYP4F30P LOC101927924 LOC107985778
nsv523500	Chr.2:130835472 - 130853759 on Build GRCh38	Loss	ARHGEF4 POTEI

More Information

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

Panther Classification:

Molecular Function -

G-protein modulator, protein-binding activity modulator, guanyl-nucleotide exchange factor

Gene Ontology Categories:

Process(es)

lamellipodium assembly
regulation of Rho protein signal transduction
intracellular signal transduction
positive regulation of apoptotic process
positive regulation of GTPase activity
filopodium assembly
regulation of small GTPase mediated signal transduction

Function(s)

guanyl-nucleotide exchange factor activity
Rho guanyl-nucleotide exchange factor activity
protein binding
protein domain specific binding
Rac guanyl-nucleotide exchange factor activity