Hs07012272_cn

• Gene Symbol: BIN2
• Assay Reference Genome Location: Chr.12:51307867 on build GRCh38
• Cytoband: 12q13.13

Target Gene Details

• Entrez Gene ID: 51411
• Gene Name: bridging integrator 2
• Gene Aliases: BRAP-1
• Location: Chr.12:51281038-51324680 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BIN2	NM_001290007.1			NP_001276936.1
	NM_001290008.1			NP_001276937.1
	NM_001290009.1			NP_001276938.1
	NM_016293.3			NP_057377.3
	XM_005268957.3			XP_005269014.2
	XM_005268958.3			XP_005269015.1
	AB032698.1			BAA88108.1
	AF146531.1			AAD54227.1
	AK000783.1			BAA91376.1
	AK093638.1
	AK225911.1
	AK300211.1
	AK314304.1
	BC047686.1			AAH47686.1
	CB996605.1
	DB035315.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv558877	Chr.12:51296967 - 51340167 on Build GRCh38	Loss	CELA1 BIN2
nsv832408	Chr.12:51302821 - 51477555 on Build GRCh38	Gain	CELA1 GALNT6 SLC4A8 BIN2

More Information

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

Gene Ontology Categories:

Process(es)

phagocytosis, engulfment
cell chemotaxis
podosome assembly
membrane tubulation

Function(s)

protein binding
phospholipid binding