Hs05260952_cn

• Gene Symbol: LARGE2
• Assay Reference Genome Location: Chr.11:45921885 on build GRCh38
• Cytoband: 11p11.2

Target Gene Details

• Entrez Gene ID: 120071
• Gene Name: LARGE xylosyl- and glucuronyltransferase 2
• Gene Aliases: GYLTL1B, PP5656
• Location: Chr.11:45921621-45929096 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LARGE2	NM_001300722.1			NP_001287651.1
	NM_152312.4			NP_689525.3
	AK055829.1
	AK096021.1			BAC04675.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv516442	Chr.11:45878411 - 45961834 on Build GRCh38	Loss	PEX16 C11orf94 LARGE2 MAPK8IP1 PHF21A CRY2

More Information

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

Panther Classification:

Molecular Function -

glycosyltransferase

Gene Ontology Categories:

Process(es)

protein O-linked glycosylation
protein O-linked mannosylation
muscle cell cellular homeostasis

Function(s)

glucuronosyltransferase activity
manganese ion binding
UDP-xylosyltransferase activity
xylosyltransferase activity