Hs01219118_cn

• Gene Symbol: LARGE2
• Assay Reference Genome Location: Chr.11:45928908 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 Exon 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LARGE2	NM_001300721.1	14	2344	NP_001287650.1
	NM_001300722.1	15	2271	NP_001287651.1
	NM_152312.4	14	2364	NP_689525.3
	XM_005252787.2	9	1669	XP_005252844.1
	XM_006718140.1	15	2251	XP_006718203.1
	XM_011519886.1	14	2370	XP_011518188.1
	XM_011519888.1	14	2240	XP_011518190.1
	XM_011519889.1	15	2296	XP_011518191.1
	XM_011519890.1	14	2195	XP_011518192.1
	XM_011519891.1	13	2129	XP_011518193.1
	XM_011519893.1	13	1999	XP_011518195.1
	XM_017017173.1	13	2463	XP_016872662.1
	AF258588.1	6	1162	AAG23791.1
	AK055829.1	15	2271
	AK092526.1	10	2106	BAC03909.1
	AK096021.1	14	2340	BAC04675.1
	BC037291.2	14	2328	AAH37291.1
	BM840813.1	1	149

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	LARGE2 MAPK8IP1 PEX16 C11orf94 PHF21A CRY2

More Information

• Set Membership: Intragenic, 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