Hs04468294_cn

• Gene Symbol: TMC8
• Assay Reference Genome Location: Chr.17:78135067 on build GRCh38
• Cytoband: 17q25.3

Target Gene Details

• Entrez Gene ID: 147138
• Gene Name: transmembrane channel like 8
• Gene Aliases: EV2, EVER2, EVIN2
• Location: Chr.17:78129296-78142968 on Build GRCh38
• Assay Gene Location: Within Intron 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TMC8	NM_152468.4			NP_689681.2
	XM_011524402.2			XP_011522704.1
	XM_011524403.2			XP_011522705.1
	XM_011524404.2			XP_011522706.1
	XM_011524406.2			XP_011522708.1
	XM_011524409.2			XP_011522711.1
	XM_011524410.2			XP_011522712.1
	XM_011524411.2			XP_011522713.1
	XM_017024238.1			XP_016879727.1
	XM_017024239.1			XP_016879728.1
	XM_017024240.1			XP_016879729.1
	XM_017024241.1			XP_016879730.1
	XM_017024242.1			XP_016879731.1
	XM_017024243.1			XP_016879732.1
	XM_017024244.1			XP_016879733.1
	AK090478.1
	AK128327.1
	AK303499.1
	AK310623.1
	AY057380.1			AAL25837.1
	AY099358.1			AAM44454.1
	AY099359.1			AAM44455.1
	AY236500.1			AAP69878.1
	BC110296.1			AAI10297.1
	BC141865.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833554	Chr.17:77977426 - 78151914 on Build GRCh38	Gain+Loss	TMC8 TMC6 C17orf99 TNRC6C TNRC6C-AS1
nsv470607	Chr.17:78121280 - 78177341 on Build GRCh38	Loss	TMC8 SYNGR2 TMC6 TK1 C17orf99

More Information

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

Gene Ontology Categories:

Process(es)

regulation of cell growth
ion transport
negative regulation of protein binding
negative regulation of protein oligomerization
zinc ion homeostasis
regulation of extrinsic apoptotic signaling pathway via death domain receptors

Function(s)

receptor binding
protein binding