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	AMER3 FAM168B POTEE POTEJ GPR148 PLEKHB2 CYP4F30P CFC1 ARHGEF4 POTEI TISP43 LOC440910
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	AMER3 FAM168B POTEE GPR148 PLEKHB2 CYP4F30P ARHGEF4 POTEI LOC440910
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	MZT2A TUBA3D WTH3DI POTEJ LINC01120 PLEKHB2 MIR4784 POTEI LOC440910 CCDC74A AMER3 NOC2LP2 FAM168B POTEKP POTEE LOC150776 GPR148 CYP4F30P ARHGEF4
nsv583136	Chr.2:130730100 - 130846832 on Build GRCh38	Loss	AMER3 GPR148 ARHGEF4 POTEI
dgv4075n100	Chr.2:130720375 - 131521740 on Build GRCh38	Gain	MZT2A TUBA3D WTH3DI LINC01120 PLEKHB2 MIR4784 POTEI LOC440910 AMER3 NOC2LP2 FAM168B POTEE LOC150776 GPR148 ARHGEF4
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	AMER3 FAM168B GPR148 PLEKHB2 ARHGEF4 POTEI
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	AMER3 FAM168B POTEE GPR148 PLEKHB2 CYP4F30P ARHGEF4 POTEI LOC440910
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	AMER3 FAM168B GPR148 PLEKHB2 ARHGEF4 POTEI
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	MZT2A TUBA3D WTH3DI LINC01120 PLEKHB2 MIR4784 POTEI LOC440910 CCDC74A AMER3 NOC2LP2 FAM168B POTEE LOC150776 GPR148 ARHGEF4
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	MZT2A TUBA3D WTH3DI POTEJ LINC01120 PLEKHB2 MIR4784 POTEI LOC440910 AMER3 NOC2LP2 FAM168B POTEE LOC150776 GPR148 CYP4F30P ARHGEF4
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	CFC1 NOC2LP2 RAB6C FAM168B POTEE LOC150776 RAB6C-AS1 WTH3DI POTEJ C2orf27A LINC01120 FAM201B MED15P9 CCDC74A MIR663B AMER3 IMP4 LOC389033 SMPD4 GPR39 TUBA3D CYP4F62P PTPN18 FAR2P2 NOC2LP1 POTEKP LOC107985778 GPR148 CYP4F30P ARHGEF4 LINC01087 MZT2A POTEF CCDC74B ZNF806 PLEKHB2 LOC101927924 MIR4784 MZT2B POTEI TISP43 LOC440910 LOC646743 C2orf27B TUBA3E CFC1B LOC100507460 ANKRD30BL CCDC115 FAR2P1
nsv523500	Chr.2:130835472 - 130853759 on Build GRCh38	Loss	ARHGEF4 POTEI
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	CYP4F62P CFC1 PTPN18 RAB6C FAR2P2 NOC2LP1 LOC107985778 GPR148 CYP4F30P ARHGEF4 POTEF CCDC74B RAB6C-AS1 POTEJ LOC101927924 MZT2B POTEI TISP43 MED15P9 LOC646743 AMER3 TUBA3E IMP4 LOC389033 CFC1B CCDC115 FAR2P1 SMPD4

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