Hs05876807_cn

• Gene Symbol: PLEKHB2
• Assay Reference Genome Location: Chr.2:131117541 on build GRCh38
• Cytoband: 2q21.1

Target Gene Details

• Entrez Gene ID: 55041
• Gene Name: pleckstrin homology domain containing B2
• Gene Aliases: EVT2
• Location: Chr.2:131104847-131149852 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PLEKHB2	NM_001100623.1			NP_001094093.1
	NM_001267062.1			NP_001253991.1
	NM_001267063.1			NP_001253992.1
	NM_001267064.1			NP_001253993.1
	NM_001267065.1			NP_001253994.1
	NM_001267066.1			NP_001253995.1
	NM_001267067.1			NP_001253996.1
	NM_001267068.1			NP_001253997.1
	NM_001309448.1			NP_001296377.1
	NM_001309450.1			NP_001296379.1
	NM_001309451.1			NP_001296380.1
	NM_001309452.1			NP_001296381.1
	NM_017958.2			NP_060428.2
	XM_011511385.2			XP_011509687.1
	XM_011511386.2			XP_011509688.1
	XM_017004408.1			XP_016859897.1
	XM_017004409.1			XP_016859898.1
	XM_017004410.1			XP_016859899.1
	XM_017004411.1			XP_016859900.1
	XM_017004412.1			XP_016859901.1
	XM_017004413.1			XP_016859902.1
	AK000790.1			BAA91379.1
	AK123710.1
	AK126289.1
	AK223338.1			BAD97058.1
	AK293880.1
	AK296008.1
	AK302770.1
	BC001428.1			AAH01428.1
	BC013991.2			AAH13991.1
	BC050695.1			AAH50695.2
	BP362174.1
	BQ052811.1
	BQ649140.1
	BU174451.1
	CK000843.1
	DB294071.1
	DC303684.1

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	PLEKHB2 LOC440910 TISP43 POTEI FAM168B ARHGEF4 AMER3 POTEE POTEJ CYP4F30P CFC1 GPR148
dgv731e199	Chr.2:130678437 - 131300107 on Build GRCh38	Deletion	PLEKHB2 LOC440910 POTEI FAM168B ARHGEF4 AMER3 POTEE CYP4F30P GPR148
esv2670824	Chr.2:130625264 - 131605218 on Build GRCh38	Deletion	POTEI WTH3DI ARHGEF4 CCDC74A AMER3 TUBA3D MZT2A POTEJ PLEKHB2 POTEKP LOC440910 MIR4784 FAM168B LOC150776 LINC01120 POTEE CYP4F30P GPR148 NOC2LP2
nsv1014723	Chr.2:130720375 - 131379551 on Build GRCh38	Loss	PLEKHB2 LOC440910 POTEI FAM168B WTH3DI ARHGEF4 AMER3 POTEE GPR148
nsv428404	Chr.2:131023910 - 131858730 on Build GRCh38	Loss	LOC100507460 POTEI WTH3DI ARHGEF4 CCDC74A TUBA3D MZT2A C2orf27A PLEKHB2 C2orf27B POTEKP LOC440910 LINC01087 MIR4784 FAM168B LOC150776 LINC01120 POTEE NOC2LP2
nsv1005040	Chr.2:131027198 - 131142955 on Build GRCh38	Gain	PLEKHB2 POTEI FAM168B ARHGEF4
esv3893337	Chr.2:130722838 - 131194387 on Build GRCh38	Loss	PLEKHB2 POTEI FAM168B ARHGEF4 AMER3 GPR148
dgv616e201	Chr.2:130674635 - 131312550 on Build GRCh38	Deletion	PLEKHB2 LOC440910 POTEI FAM168B ARHGEF4 AMER3 POTEE CYP4F30P GPR148
nsv583135	Chr.2:130724905 - 131194388 on Build GRCh38	Loss	PLEKHB2 POTEI FAM168B ARHGEF4 AMER3 GPR148
nsv524021	Chr.2:130724906 - 131553515 on Build GRCh38	Loss	POTEI WTH3DI ARHGEF4 CCDC74A AMER3 TUBA3D MZT2A PLEKHB2 LOC440910 MIR4784 FAM168B LOC150776 LINC01120 POTEE GPR148 NOC2LP2
nsv1005763	Chr.2:131058741 - 131131667 on Build GRCh38	Gain	PLEKHB2 POTEI FAM168B
esv2760576	Chr.2:130634172 - 131521752 on Build GRCh38	Gain+Loss	POTEI WTH3DI ARHGEF4 AMER3 TUBA3D MZT2A POTEJ PLEKHB2 LOC440910 MIR4784 FAM168B LOC150776 LINC01120 POTEE CYP4F30P GPR148 NOC2LP2
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	TISP43 POTEI WTH3DI CCDC74A MZT2A POTEJ LOC440910 LINC01087 MIR4784 MED15P9 POTEE NOC2LP2 LOC100507460 LOC107985778 C2orf27A ZNF806 GPR39 LOC646743 PLEKHB2 C2orf27B POTEKP MZT2B LOC101927924 CCDC115 CYP4F62P TUBA3D CFC1 LOC389033 LOC150776 CFC1B LINC01120 PTPN18 ANKRD30BL IMP4 RAB6C-AS1 FAR2P1 RAB6C MIR663B ARHGEF4 AMER3 SMPD4 NOC2LP1 TUBA3E FAM168B CCDC74B FAR2P2 CYP4F30P FAM201B GPR148 POTEF
dgv4076n100	Chr.2:131095274 - 131153308 on Build GRCh38	Gain	PLEKHB2 POTEI

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

regulation of cell differentiation

Function(s)

protein binding