Hs00550003_cn

• Gene Symbol: B4GALT2
• Assay Reference Genome Location: Chr.1:43981700 on build GRCh38
• Cytoband: 1p34.1

Target Gene Details

• Entrez Gene ID: 8704
• Gene Name: beta-1,4-galactosyltransferase 2
• Gene Aliases: B4Gal-T2, B4Gal-T3, beta4Gal-T2
• Location: Chr.1:43979202-43991171 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
B4GALT2	NM_001005417.2			NP_001005417.1
	NM_003780.4			NP_003771.1
	NM_030587.2			NP_085076.2
	XM_017002716.1			XP_016858205.1
	XM_017002717.1			XP_016858206.1
	AB024434.1			BAA75819.1
	AF038660.1			AAC39733.1
	AK074533.1
	AK095873.1
	AK293418.1
	AL535811.3
	BC096821.1			AAH96821.1
	CD675528.1
	DC386748.1
	Y12510.1			CAA73112.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv546141	Chr.1:43975861 - 43985562 on Build GRCh38	Loss	B4GALT2 ATP6V0B
nsv732	Chr.1:43976690 - 43992799 on Build GRCh38	Insertion	CCDC24 B4GALT2 ATP6V0B

More Information

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

Panther Classification:

Molecular Function -

glycosyltransferase

Gene Ontology Categories:

Process(es)

protein glycosylation
keratan sulfate biosynthetic process

Function(s)

beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity
N-acetyllactosamine synthase activity
lactose synthase activity
galactosyltransferase activity
metal ion binding