Hs02290949_cn

• Gene Symbol: HAPLN2
• Assay Reference Genome Location: Chr.1:156625109 on build GRCh38
• Cytoband: 1q23.1

Target Gene Details

• Entrez Gene ID: 60484
• Gene Name: hyaluronan and proteoglycan link protein 2
• Gene Aliases: BRAL1
• Location: Chr.1:156601504-156626608 on Build GRCh38
• Assay Gene Location: Overlaps Intron 7 - Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HAPLN2	NM_021817.2			NP_068589.1
	XM_005245415.2			XP_005245472.1
	XM_011509853.2			XP_011508155.1
	XM_017002020.1			XP_016857509.1
	AB049054.1			BAB17662.1
	AK090712.1
	AK294131.1
	BC029864.1			AAH29864.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv521401	Chr.1:156624864 - 156645402 on Build GRCh38	Loss	BCAN HAPLN2
nsv523181	Chr.1:156580462 - 156706761 on Build GRCh38	Loss	CRABP2 BCAN GPATCH4 TTC24 LOC101928177 NAXE NES HAPLN2
nsv824864	Chr.1:156624990 - 156625869 on Build GRCh38	Gain	HAPLN2
nsv824853	Chr.1:156624803 - 156625289 on Build GRCh38	Gain	HAPLN2

More Information

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

Panther Classification:

Molecular Function -

extracellular matrix glycoprotein

Gene Ontology Categories:

Process(es)

skeletal system development
cell adhesion
central nervous system development
establishment of blood-nerve barrier
extracellular matrix assembly

Function(s)

extracellular matrix structural constituent
hyaluronic acid binding