Hs06975671_cn

• Gene Symbol: TMTC2
• Assay Reference Genome Location: Chr.12:82694474 on build GRCh38
• Cytoband: 12q21.31

Target Gene Details

• Entrez Gene ID: 160335
• Gene Name: transmembrane and tetratricopeptide repeat containing 2
• Gene Aliases: IBDBP1
• Location: Chr.12:82686952-83134868 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TMTC2	NM_001320321.1			NP_001307250.1
	NM_001320322.1			NP_001307251.1
	NM_152588.2			NP_689801.1
	XM_017018884.1			XP_016874373.1
	AK299771.1
	AK315285.1
	AL834509.1			CAD39165.1
	AX795392.1			CAE48265.1
	BC093852.1			AAH93852.1
	BC093854.1			AAH93854.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv521849	Chr.12:82620004 - 83597700 on Build GRCh38	Gain	TMTC2
nsv559541	Chr.12:82321431 - 82714616 on Build GRCh38	Gain	CCDC59 TMTC2 METTL25

More Information

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

Panther Classification:

Molecular Function -

protein modifying enzyme

Gene Ontology Categories:

Process(es)

calcium ion homeostasis

Function(s)

protein binding