Hs03447699_cn

• Gene Symbol: ARHGEF4
• Assay Reference Genome Location: Chr.2:130848707 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	CYP4F30P ARHGEF4 LOC440910 POTEI POTEJ FAM168B GPR148 CFC1 POTEE AMER3 PLEKHB2 TISP43
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	CYP4F30P ARHGEF4 LOC440910 POTEI FAM168B GPR148 POTEE AMER3 PLEKHB2
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	TUBA3D WTH3DI LINC01120 LOC440910 POTEI POTEJ CCDC74A FAM168B GPR148 NOC2LP2 POTEE POTEKP AMER3 LOC150776 CYP4F30P ARHGEF4 MIR4784 MZT2A PLEKHB2
nsv1014723	Chr.2:130720375 - 131379551 on Build GRCh38	Loss	WTH3DI ARHGEF4 LOC440910 POTEI FAM168B GPR148 POTEE AMER3 PLEKHB2
nsv2925	Chr.2:130841107 - 130887218 on Build GRCh38	Deletion	ARHGEF4 POTEI
nsv517274	Chr.2:130845653 - 130865593 on Build GRCh38	Loss	ARHGEF4 POTEI
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	ARHGEF4 POTEI FAM168B GPR148 AMER3 PLEKHB2
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	CYP4F30P ARHGEF4 LOC440910 POTEI FAM168B GPR148 POTEE AMER3 PLEKHB2
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	ARHGEF4 POTEI FAM168B GPR148 AMER3 PLEKHB2
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	TUBA3D WTH3DI LINC01120 LOC440910 POTEI CCDC74A FAM168B GPR148 NOC2LP2 POTEE AMER3 LOC150776 ARHGEF4 MIR4784 MZT2A PLEKHB2
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	TUBA3D WTH3DI LINC01120 LOC440910 POTEI POTEJ FAM168B GPR148 NOC2LP2 POTEE AMER3 LOC150776 CYP4F30P ARHGEF4 MIR4784 MZT2A PLEKHB2
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	POTEJ GPR148 NOC2LP2 SMPD4 LOC101927924 CYP4F30P MIR4784 MED15P9 LOC107985778 CCDC74B TISP43 TUBA3D FAM168B CFC1 POTEE LOC150776 FAR2P1 FAR2P2 ANKRD30BL WTH3DI POTEF LOC389033 LOC440910 MZT2B TUBA3E RAB6C-AS1 C2orf27B AMER3 CCDC115 PTPN18 FAM201B ZNF806 MZT2A IMP4 C2orf27A PLEKHB2 NOC2LP1 LINC01120 LINC01087 POTEI CCDC74A POTEKP RAB6C CYP4F62P ARHGEF4 MIR663B GPR39 CFC1B LOC100507460 LOC646743
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	POTEF LOC389033 MZT2B POTEJ TUBA3E RAB6C-AS1 GPR148 AMER3 SMPD4 CCDC115 LOC101927924 CYP4F30P PTPN18 MED15P9 IMP4 LOC107985778 CCDC74B NOC2LP1 TISP43 POTEI CFC1 RAB6C CYP4F62P ARHGEF4 CFC1B FAR2P1 FAR2P2 LOC646743
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