Hs01819286_cn

• Gene Symbol: ITM2A
• Assay Reference Genome Location: Chr.X:79363025 on build GRCh38
• Cytoband: Xq21.1

Target Gene Details

• Entrez Gene ID: 9452
• Gene Name: integral membrane protein 2A
• Gene Aliases: BRICD2A, E25A
• Location: Chr.X:79360384-79367552 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ITM2A	NM_001171581.1	2	563	NP_001165052.1
	NM_004867.4	3	695	NP_004858.1
	AB209310.1	1	4272	BAD92547.1
	AF038953.1	3	497	AAC39867.1
	AK223327.1	3	474	BAD97047.1
	AK303238.1	2	345
	AK313154.1	3	653
	AY359051.1	3	436	AAQ89410.1
	BC040437.1	3	450	AAH40437.1
	CR456875.1	3	358	CAG33156.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv519126	Chr.X:79331247 - 79373681 on Build GRCh38	Gain	ITM2A

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

nervous system development
negative regulation of amyloid precursor protein biosynthetic process

Function(s)

beta-amyloid binding
protein binding