Hs03175857_cn

• Gene Symbol: MZT2B
• Assay Reference Genome Location: Chr.2:130198402 on build GRCh38
• Cytoband: 2q21.1

Target Gene Details

• Entrez Gene ID: 80097
• Gene Name: mitotic spindle organizing protein 2B
• Gene Aliases: FAM128B, MOZART2B
• Location: Chr.2:130181562-130204793 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MZT2B	XM_011511889.2			XP_011510191.1

Target Gene Details

• Entrez Gene ID: 112714
• Gene Name: tubulin alpha 3e
• Gene Aliases: -
• Location: Chr.2:130191745-130198461 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TUBA3E	NM_207312.2			NP_997195.1
	AK131043.1
	BC057811.1			AAH57811.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
dgv2033n106	Chr.2:130197227 - 130199830 on Build GRCh38	Deletion	TUBA3E MZT2B
esv2661150	Chr.2:130197356 - 130199830 on Build GRCh38	Deletion	TUBA3E MZT2B
nsv961882	Chr.2:130120031 - 130248881 on Build GRCh38	Duplication	POTEF MED15P9 NOC2LP1 TUBA3E CCDC74B SMPD4 MZT2B
nsv1069908	Chr.2:130197318 - 130199831 on Build GRCh38	Deletion	TUBA3E MZT2B
dgv7079n54	Chr.2:130181715 - 130391244 on Build GRCh38	Loss	NOC2LP1 TUBA3E IMP4 SMPD4 MZT2B CCDC115 PTPN18
nsv583113	Chr.2:130132813 - 130369588 on Build GRCh38	Gain	MED15P9 NOC2LP1 TUBA3E IMP4 CCDC74B SMPD4 MZT2B CCDC115 PTPN18
nsv1008911	Chr.2:130037806 - 130248607 on Build GRCh38	Gain	POTEF MED15P9 NOC2LP1 TUBA3E CCDC74B SMPD4 FAR2P1 MZT2B
dgv7082n54	Chr.2:130197306 - 130199461 on Build GRCh38	Loss	TUBA3E MZT2B
nsv520559	Chr.2:130133334 - 130390535 on Build GRCh38	Gain+Loss	MED15P9 NOC2LP1 TUBA3E IMP4 CCDC74B SMPD4 MZT2B CCDC115 PTPN18
nsv1008970	Chr.2:130159287 - 130271878 on Build GRCh38	Loss	NOC2LP1 TUBA3E SMPD4 MZT2B
esv2763387	Chr.2:130026123 - 130400286 on Build GRCh38	Loss	POTEF MED15P9 NOC2LP1 TUBA3E IMP4 CCDC74B SMPD4 FAR2P1 MZT2B CCDC115 PTPN18
nsv583046	Chr.2:128746961 - 130390535 on Build GRCh38	Loss	POTEF RAB6C LOC389033 TUBA3E CCDC74B SMPD4 CCDC115 PTPN18 MED15P9 LOC151121 NOC2LP1 LOC101927881 IMP4 LOC101927924 FAR2P1 MZT2B RAB6C-AS1
nsv954154	Chr.2:130197343 - 130199840 on Build GRCh38	Deletion	TUBA3E MZT2B
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	MIR663B POTEF RAB6C CFC1B SMPD4 LINC01087 POTEE ANKRD30BL NOC2LP2 MZT2B TISP43 LOC440910 RAB6C-AS1 TUBA3E GPR39 MIR4784 CCDC115 FAM201B ARHGEF4 TUBA3D FAM168B IMP4 LOC101927924 POTEKP C2orf27B ZNF806 C2orf27A FAR2P2 CFC1 PLEKHB2 CCDC74B WTH3DI CYP4F62P PTPN18 MED15P9 NOC2LP1 GPR148 LOC107985778 POTEI MZT2A POTEJ LOC100507460 LOC389033 LINC01120 CCDC74A LOC150776 AMER3 CYP4F30P LOC646743 FAR2P1
dgv4073n100	Chr.2:130091652 - 130400286 on Build GRCh38	Gain	POTEF MED15P9 NOC2LP1 TUBA3E IMP4 CCDC74B SMPD4 MZT2B CCDC115 PTPN18
nsv1151920	Chr.2:130197331 - 130199815 on Build GRCh38	Deletion	TUBA3E MZT2B
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	POTEF RAB6C FAR2P2 CFC1 CFC1B CCDC74B SMPD4 CYP4F62P PTPN18 MED15P9 NOC2LP1 GPR148 LOC107985778 POTEI MZT2B TISP43 RAB6C-AS1 POTEJ LOC389033 TUBA3E CCDC115 AMER3 ARHGEF4 CYP4F30P LOC646743 IMP4 LOC101927924 FAR2P1
nsv998333	Chr.2:130059754 - 130454126 on Build GRCh38	Gain+Loss	POTEF MED15P9 NOC2LP1 FAR2P2 TUBA3E IMP4 CCDC74B SMPD4 MZT2B CCDC115 CYP4F62P PTPN18
esv2760631	Chr.2:130005319 - 130400286 on Build GRCh38	Gain+Loss	POTEF MED15P9 NOC2LP1 TUBA3E IMP4 CCDC74B SMPD4 FAR2P1 MZT2B CCDC115 PTPN18
nsv10165	Chr.2:130197109 - 130200718 on Build GRCh38	Loss	TUBA3E MZT2B
esv3584065	Chr.2:130046530 - 130400286 on Build GRCh38	Loss	POTEF MED15P9 NOC2LP1 TUBA3E IMP4 CCDC74B SMPD4 FAR2P1 MZT2B CCDC115 PTPN18
nsv821629	Chr.2:128739264 - 130334676 on Build GRCh38	Loss	POTEF RAB6C LOC389033 TUBA3E CCDC74B SMPD4 MED15P9 LOC151121 NOC2LP1 LOC101927881 LOC101927924 FAR2P1 MZT2B RAB6C-AS1
nsv834375	Chr.2:130106689 - 130293476 on Build GRCh38	Loss	POTEF MED15P9 NOC2LP1 TUBA3E CCDC74B SMPD4 MZT2B
nsv818080	Chr.2:130185940 - 130352524 on Build GRCh38	Gain	NOC2LP1 TUBA3E IMP4 MZT2B CCDC115
nsv583129	Chr.2:130198419 - 130198558 on Build GRCh38	Loss	TUBA3E MZT2B
esv27317	Chr.2:130197093 - 130199761 on Build GRCh38	Loss	TUBA3E MZT2B
nsv583124	Chr.2:130197580 - 130198663 on Build GRCh38	Loss	TUBA3E MZT2B
esv2720767	Chr.2:130197293 - 130199882 on Build GRCh38	Deletion	TUBA3E MZT2B
esv2751826	Chr.2:129606158 - 130385563 on Build GRCh38	Gain	POTEF RAB6C LOC389033 TUBA3E CCDC74B SMPD4 CCDC115 PTPN18 MED15P9 NOC2LP1 IMP4 LOC101927924 FAR2P1 MZT2B RAB6C-AS1
nsv583128	Chr.2:130197974 - 130199461 on Build GRCh38	Loss	TUBA3E MZT2B
esv3592442	Chr.2:130197366 - 130199828 on Build GRCh38	Loss	TUBA3E MZT2B
esv3560134	Chr.2:130197201 - 130199977 on Build GRCh38	Deletion	TUBA3E MZT2B
esv3893326	Chr.2:130080351 - 130492798 on Build GRCh38	Gain	POTEF FAR2P2 TUBA3E CCDC74B SMPD4 CCDC115 CYP4F62P PTPN18 MED15P9 NOC2LP1 IMP4 POTEI MZT2B
nsv583120	Chr.2:130197089 - 130198462 on Build GRCh38	Loss	TUBA3E MZT2B

More Information

Additional Information:

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

Panther Classification:

Molecular Function -

tubulin

Gene Ontology Categories:

Process(es)

cytoskeleton organization
microtubule-based process
biological_process

Function(s)

protein binding
molecular_function
GTPase activity
structural constituent of cytoskeleton
GTP binding