Hs03423204_cn

• Gene Symbol: ARHGEF4
• Assay Reference Genome Location: Chr.2:130838890 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	LOC440910 CYP4F30P POTEE FAM168B TISP43 AMER3 POTEI GPR148 ARHGEF4 PLEKHB2 POTEJ CFC1
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	LOC440910 CYP4F30P POTEE FAM168B AMER3 POTEI GPR148 ARHGEF4 PLEKHB2
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	CYP4F30P POTEE MIR4784 AMER3 POTEI GPR148 CCDC74A TUBA3D PLEKHB2 LOC150776 LOC440910 FAM168B WTH3DI LINC01120 POTEKP ARHGEF4 POTEJ MZT2A NOC2LP2
nsv583136	Chr.2:130730100 - 130846832 on Build GRCh38	Loss	AMER3 POTEI GPR148 ARHGEF4
nsv1014723	Chr.2:130720375 - 131379551 on Build GRCh38	Loss	LOC440910 POTEE FAM168B WTH3DI AMER3 POTEI GPR148 ARHGEF4 PLEKHB2
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	FAM168B AMER3 POTEI GPR148 ARHGEF4 PLEKHB2
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	LOC440910 CYP4F30P POTEE FAM168B AMER3 POTEI GPR148 ARHGEF4 PLEKHB2
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	FAM168B AMER3 POTEI GPR148 ARHGEF4 PLEKHB2
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	POTEE MIR4784 AMER3 POTEI GPR148 CCDC74A TUBA3D PLEKHB2 LOC150776 LOC440910 FAM168B WTH3DI LINC01120 ARHGEF4 MZT2A NOC2LP2
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	CYP4F30P POTEE MIR4784 AMER3 POTEI GPR148 TUBA3D PLEKHB2 LOC150776 LOC440910 FAM168B WTH3DI LINC01120 ARHGEF4 POTEJ MZT2A NOC2LP2
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	POTEE LOC107985778 AMER3 LOC646743 LOC150776 FAR2P2 FAM168B WTH3DI CCDC74B MZT2A CFC1B LOC101927924 CYP4F30P GPR148 GPR39 SMPD4 LOC389033 LOC440910 FAM201B TUBA3E CYP4F62P MIR663B IMP4 MIR4784 POTEI FAR2P1 TUBA3D PLEKHB2 NOC2LP1 ANKRD30BL LINC01087 MED15P9 CCDC115 LINC01120 ZNF806 C2orf27A CFC1 NOC2LP2 PTPN18 TISP43 C2orf27B CCDC74A RAB6C-AS1 RAB6C POTEKP POTEF LOC100507460 ARHGEF4 POTEJ MZT2B
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	LOC107985778 AMER3 POTEI FAR2P1 NOC2LP1 LOC646743 FAR2P2 MED15P9 CCDC115 CCDC74B CFC1 CFC1B LOC101927924 PTPN18 CYP4F30P TISP43 GPR148 SMPD4 LOC389033 RAB6C-AS1 RAB6C POTEF ARHGEF4 TUBA3E POTEJ CYP4F62P MZT2B IMP4
nsv523500	Chr.2:130835472 - 130853759 on Build GRCh38	Loss	POTEI ARHGEF4

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