Hs02195439_cn

• Gene Symbol: TBC1D2
• Assay Reference Genome Location: Chr.9:98203372 on build GRCh38
• Cytoband: 9q22.33

Target Gene Details

• Entrez Gene ID: 55357
• Gene Name: TBC1 domain family member 2
• Gene Aliases: PARIS-1, PARIS1, TBC1D2A
• Location: Chr.9:98198998-98255721 on Build GRCh38
• Assay Gene Location: Overlaps Intron 12 - Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBC1D2	NM_001267571.1			NP_001254500.1
	NM_001267572.1			NP_001254501.1
	NM_018421.3			NP_060891.3
	NR_051978.1
	XM_011518843.1			XP_011517145.1
	XM_017014899.1			XP_016870388.1
	AB449882.1
	AF318370.1			AAL55877.1
	AK026105.1			BAB15361.1
	AK124772.1
	AK131290.1
	AK298575.1
	AL353935.1			CAB89247.2
	AY026527.1			AAK07684.1
	BC028918.1			AAH28918.1
	BC071978.1			AAH71978.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv520067	Chr.9:98164879 - 98216260 on Build GRCh38	Gain	CORO2A TBC1D2
esv3621201	Chr.9:98068567 - 98407578 on Build GRCh38	Gain	MIR6854 CORO2A NANS TBC1D2 GABBR2 TRIM14
nsv831663	Chr.9:98178766 - 98347210 on Build GRCh38	Loss	MIR6854 CORO2A TBC1D2 GABBR2

More Information

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

Panther Classification:

Molecular Function -

GTPase-activating protein

Gene Ontology Categories:

Process(es)

intracellular protein transport
regulation of vesicle fusion
positive regulation of GTPase activity
activation of GTPase activity
regulation of cilium assembly

Function(s)

GTPase activator activity
protein binding
Rab GTPase binding
cadherin binding