Hs04229743_cn

• Gene Symbol: ARHGEF4
• Assay Reference Genome Location: Chr.2:130840904 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	POTEE ARHGEF4 FAM168B GPR148 PLEKHB2 CFC1 POTEJ CYP4F30P AMER3 POTEI LOC440910 TISP43
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	POTEE ARHGEF4 FAM168B GPR148 PLEKHB2 CYP4F30P AMER3 POTEI LOC440910
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	POTEE ARHGEF4 TUBA3D POTEKP GPR148 PLEKHB2 LOC150776 AMER3 POTEI WTH3DI LOC440910 MIR4784 FAM168B CCDC74A POTEJ CYP4F30P NOC2LP2 MZT2A LINC01120
nsv583136	Chr.2:130730100 - 130846832 on Build GRCh38	Loss	ARHGEF4 GPR148 AMER3 POTEI
nsv1014723	Chr.2:130720375 - 131379551 on Build GRCh38	Loss	POTEE ARHGEF4 FAM168B GPR148 PLEKHB2 AMER3 POTEI WTH3DI LOC440910
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	ARHGEF4 FAM168B GPR148 PLEKHB2 AMER3 POTEI
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	POTEE ARHGEF4 FAM168B GPR148 PLEKHB2 CYP4F30P AMER3 POTEI LOC440910
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	ARHGEF4 FAM168B GPR148 PLEKHB2 AMER3 POTEI
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	POTEE ARHGEF4 TUBA3D GPR148 PLEKHB2 LOC150776 AMER3 POTEI WTH3DI LOC440910 MIR4784 FAM168B CCDC74A NOC2LP2 MZT2A LINC01120
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	POTEE ARHGEF4 TUBA3D GPR148 PLEKHB2 LOC150776 AMER3 POTEI WTH3DI LOC440910 MIR4784 FAM168B POTEJ CYP4F30P NOC2LP2 MZT2A LINC01120
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	ARHGEF4 POTEKP LOC389033 RAB6C-AS1 FAR2P1 IMP4 LOC101927924 ZNF806 CFC1 CFC1B LINC01120 TUBA3E LOC150776 LOC646743 FAR2P2 GPR39 AMER3 LOC440910 MIR4784 MED15P9 FAM168B CCDC74A POTEJ CYP4F30P MZT2A PTPN18 TUBA3D RAB6C PLEKHB2 POTEF LOC107985778 CCDC74B WTH3DI LINC01087 TISP43 POTEE ANKRD30BL C2orf27B GPR148 CYP4F62P SMPD4 NOC2LP1 LOC100507460 CCDC115 POTEI MIR663B C2orf27A NOC2LP2 MZT2B FAM201B
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	ARHGEF4 RAB6C POTEF LOC389033 LOC107985778 RAB6C-AS1 FAR2P1 CCDC74B IMP4 LOC101927924 CFC1 CFC1B TUBA3E TISP43 GPR148 CYP4F62P SMPD4 LOC646743 FAR2P2 NOC2LP1 AMER3 CCDC115 POTEI MED15P9 POTEJ CYP4F30P MZT2B PTPN18
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