Hs06331123_cn

• Gene Symbol: EXT2
• Assay Reference Genome Location: Chr.11:44120732 on build GRCh38
• Cytoband: 11p11.2

Target Gene Details

• Entrez Gene ID: 2132
• Gene Name: exostosin glycosyltransferase 2
• Gene Aliases: SOTV, SSMS
• Location: Chr.11:44095549-44245430 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EXT2	NM_000401.3			NP_000392.3
	NM_001178083.1			NP_001171554.1
	NM_207122.1			NP_997005.1
	XM_011519950.1			XP_011518252.1
	XM_011519951.1			XP_011518253.1
	AK296713.1
	AK312375.1
	BC010058.1			AAH10058.1
	BC068545.1			AAH68545.1
	BX648142.1
	U62740.1			AAB07008.1
	U64511.1			AAC50764.1
	U72263.1			AAB62718.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832139	Chr.11:44063681 - 44277647 on Build GRCh38	Loss	ALX4 ACCS EXT2
nsv1043523	Chr.11:44082672 - 44137619 on Build GRCh38	Gain	ACCS EXT2

More Information

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

Panther Classification:

Molecular Function -

glycosyltransferase

Gene Ontology Categories:

Process(es)

ossification
mesoderm formation
glycosaminoglycan biosynthetic process
protein glycosylation
signal transduction
heparan sulfate proteoglycan biosynthetic process
heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
cell differentiation
cellular polysaccharide biosynthetic process

Function(s)

protein binding
acetylglucosaminyltransferase activity
glucuronosyltransferase activity
transferase activity, transferring glycosyl groups
heparan sulfate N-acetylglucosaminyltransferase activity
protein homodimerization activity
metal ion binding
protein heterodimerization activity
glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity