Hs03390860_cn

• Gene Symbol: ARHGEF4
• Assay Reference Genome Location: Chr.2:130837891 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	CFC1 AMER3 FAM168B TISP43 LOC440910 POTEE POTEJ CYP4F30P GPR148 ARHGEF4 PLEKHB2 POTEI
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	AMER3 FAM168B LOC440910 POTEE CYP4F30P GPR148 ARHGEF4 PLEKHB2 POTEI
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	WTH3DI FAM168B CCDC74A TUBA3D POTEJ LINC01120 GPR148 ARHGEF4 POTEKP POTEI AMER3 LOC440910 POTEE NOC2LP2 MZT2A CYP4F30P LOC150776 PLEKHB2 MIR4784
nsv583136	Chr.2:130730100 - 130846832 on Build GRCh38	Loss	AMER3 GPR148 ARHGEF4 POTEI
nsv1014723	Chr.2:130720375 - 131379551 on Build GRCh38	Loss	WTH3DI AMER3 FAM168B LOC440910 POTEE GPR148 ARHGEF4 PLEKHB2 POTEI
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	AMER3 FAM168B GPR148 ARHGEF4 PLEKHB2 POTEI
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	AMER3 FAM168B LOC440910 POTEE CYP4F30P GPR148 ARHGEF4 PLEKHB2 POTEI
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	AMER3 FAM168B GPR148 ARHGEF4 PLEKHB2 POTEI
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	WTH3DI FAM168B CCDC74A TUBA3D LINC01120 GPR148 ARHGEF4 POTEI AMER3 LOC440910 POTEE NOC2LP2 MZT2A LOC150776 PLEKHB2 MIR4784
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	WTH3DI FAM168B TUBA3D POTEJ LINC01120 GPR148 ARHGEF4 POTEI AMER3 LOC440910 POTEE NOC2LP2 MZT2A CYP4F30P LOC150776 PLEKHB2 MIR4784
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	CCDC74B CFC1 WTH3DI LINC01087 MZT2B CCDC74A GPR148 LOC646743 POTEE NOC2LP2 NOC2LP1 RAB6C-AS1 GPR39 C2orf27B LOC150776 LINC01120 RAB6C ANKRD30BL POTEF AMER3 TUBA3E PLEKHB2 LOC100507460 LOC389033 CCDC115 TUBA3D MED15P9 MIR663B LOC101927924 ARHGEF4 TISP43 C2orf27A LOC107985778 CYP4F62P MIR4784 IMP4 FAM168B SMPD4 POTEJ FAR2P2 POTEKP POTEI FAM201B PTPN18 FAR2P1 LOC440910 MZT2A CYP4F30P ZNF806 CFC1B
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	CCDC74B CFC1 MZT2B CCDC115 MED15P9 GPR148 LOC101927924 ARHGEF4 LOC646743 TISP43 NOC2LP1 RAB6C-AS1 LOC107985778 CYP4F62P IMP4 SMPD4 POTEJ FAR2P2 RAB6C POTEI POTEF AMER3 TUBA3E PTPN18 FAR2P1 CYP4F30P LOC389033 CFC1B
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