Hs04553995_cn

• Gene Symbol: ITM2C
• Assay Reference Genome Location: Chr.2:230869875 on build GRCh38
• Cytoband: 2q37.1

Target Gene Details

• Entrez Gene ID: 81618
• Gene Name: integral membrane protein 2C
• Gene Aliases: BRI3, BRICD2C, E25, E25C, ITM3
• Location: Chr.2:230864598-230879254 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ITM2C	NM_001012514.2			NP_001012532.1
	NM_001012516.2			NP_001012534.1
	NM_001287240.1			NP_001274169.1
	NM_001287241.1			NP_001274170.1
	NM_030926.5			NP_112188.1
	AB003629.1			BAB46927.1
	AF271781.1			AAG44792.1
	AF272043.1			AAF89492.1
	AK056321.1
	AK075361.1			BAC11570.1
	AK090975.1			BAC03562.1
	AK222697.1			BAD96417.1
	AK295503.1
	AK303199.1
	AK307702.1
	AL136603.1			CAB66538.1
	AL713651.1			CAD28460.1
	AY049777.1			AAL15434.1
	BC002424.1			AAH02424.1
	BC025742.1			AAH25742.1
	BC050668.1			AAH50668.1
	BC098563.1			AAH98563.1
	BM842614.1
	BX444331.2
	CR457208.1			CAG33489.1
	DA138409.1
	DA182471.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470522	Chr.2:230867985 - 230943576 on Build GRCh38	Loss	LOC151484 GPR55 ITM2C
nsv834565	Chr.2:230697957 - 230920661 on Build GRCh38	Gain	LOC151475 LOC151484 GPR55 ITM2C CAB39

More Information

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

Gene Ontology Categories:

Process(es)

negative regulation of neuron projection development
neuron differentiation
negative regulation of amyloid precursor protein biosynthetic process
positive regulation of extrinsic apoptotic signaling pathway

Function(s)

beta-amyloid binding
protein binding
ATP binding