Hs06618323_cn

• Gene Symbol: BFSP2
• Assay Reference Genome Location: Chr.3:133403415 on build GRCh38
• Cytoband: 3q22.1

Target Gene Details

• Entrez Gene ID: 8419
• Gene Name: beaded filament structural protein 2
• Gene Aliases: CP47, CP49, CTRCT12, LIFL-L, PHAKOSIN
• Location: Chr.3:133397882-133475212 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BFSP2	NM_003571.3			NP_003562.1
	XM_017007315.1			XP_016862804.1
	BC113518.1
	BC113520.1
	BM696550.1
	U48224.1			AAC50414.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv460857	Chr.3:133382546 - 133403372 on Build GRCh38	Loss	BFSP2 LOC101927432 TMEM108

More Information

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

Gene Ontology Categories:

Process(es)

visual perception
intermediate filament cytoskeleton organization
cell maturation
response to stimulus
lens fiber cell development

Function(s)

structural constituent of cytoskeleton
structural constituent of eye lens
protein binding