Hs01019835_cn

• Gene Symbol: EXTL2
• Assay Reference Genome Location: Chr.1:100872390 on build GRCh38
• Cytoband: 1p21.2

Target Gene Details

• Entrez Gene ID: 2135
• Gene Name: exostosin like glycosyltransferase 2
• Gene Aliases: EXTR2
• Location: Chr.1:100872372-100895411 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EXTL2	NM_001033025.2			NP_001028197.1
	NM_001261440.1			NP_001248369.1
	NM_001261441.1			NP_001248370.1
	NM_001261442.1			NP_001248371.1
	NM_001439.3			NP_001430.1
	NR_048570.1
	XM_005270621.1			XP_005270678.1
	XM_011540994.2			XP_011539296.1
	XM_011540995.2			XP_011539297.1
	XM_011540996.2			XP_011539298.1
	XM_017000651.1			XP_016856140.1
	AF000416.1			AAC02898.1
	BC036015.1			AAH36015.1
	BC045681.1			AAH45681.1
	BU689972.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv522064	Chr.1:100715786 - 101074310 on Build GRCh38	Gain	VCAM1 DPH5 SLC30A7 EXTL2 LOC102606465

More Information

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

Panther Classification:

Molecular Function -

glycosyltransferase

Gene Ontology Categories:

Process(es)

glycosaminoglycan biosynthetic process
N-acetylglucosamine metabolic process
heparan sulfate proteoglycan biosynthetic process
UDP-N-acetylgalactosamine metabolic process

Function(s)

glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
alpha-1,4-N-acetylgalactosaminyltransferase activity
metal ion binding