Hs02531353_cn

• Gene Symbol: TBC1D4
• Assay Reference Genome Location: Chr.13:75285871 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	5195	NP_001273587.1
	NM_001286659.2	19	5030	NP_001273588.1
	NM_014832.4	21	5219	NP_055647.2
	XM_005266603.1	20	5622	XP_005266660.1
	XM_005266605.2	21	4547	XP_005266662.1
	XM_006719903.3	21	4907	XP_006719966.1
	XM_011535331.1	20	5586	XP_011533633.1
	XM_017020882.1	19	4239	XP_016876371.1
	XM_017020883.1	18	4233	XP_016876372.1
	XM_017020884.1	9	3805	XP_016876373.1
	AB011175.1	22	5168
	BC151239.1	22	5160
	CR749622.1	11	2999	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	COMMD6 LINC00347 LMO7 LOC105370259 TBC1D4 LINC01078 LINC00381 LMO7-AS1 UCHL3 CTAGE11P KLF12
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