Hs03003257_cn

• Gene Symbol: TBC1D4
• Assay Reference Genome Location: Chr.13:75284990 on build GRCh38
• Cytoband: 13q22.2

Target Gene Details

• Entrez Gene ID: 9882
• Gene Name: TBC1 domain family member 4
• Gene Aliases: AS160, NIDDM5
• Location: Chr.13:75284664-75482646 on Build GRCh38
• Assay Gene Location: Within Exon 24

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBC1D4	NM_001286658.2	20	6076	NP_001273587.1
	NM_001286659.2	19	5911	NP_001273588.1
	NM_014832.4	21	6100	NP_055647.2
	XM_005266603.1	20	6503	XP_005266660.1
	XM_005266605.2	21	5428	XP_005266662.1
	XM_006719903.3	21	5788	XP_006719966.1
	XM_011535331.1	20	6467	XP_011533633.1
	XM_017020882.1	19	5120	XP_016876371.1
	XM_017020883.1	18	5114	XP_016876372.1
	XM_017020884.1	9	4686	XP_016876373.1
	CA448893.1	1	344
	CR749622.1	11	3880	CAH18416.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv521444	Chr.13:74139302 - 75679218 on Build GRCh38	Gain	LINC01078 KLF12 UCHL3 LMO7 LOC105370259 TBC1D4 COMMD6 LINC00347 LINC00381 CTAGE11P LMO7-AS1
esv3632746	Chr.13:75281592 - 75326999 on Build GRCh38	Loss	TBC1D4

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

GTPase-activating protein

Gene Ontology Categories:

Process(es)

intracellular protein transport
vesicle-mediated transport
regulation of vesicle fusion
negative regulation of vesicle fusion
cellular response to insulin stimulus
membrane organization
activation of GTPase activity

Function(s)

GTPase activator activity
Rab GTPase binding