Hs07226296_cn

• Gene Symbol: GCNT2
• Assay Reference Genome Location: Chr.6:10545313 on build GRCh38
• Cytoband: 6p24.3

Target Gene Details

• Entrez Gene ID: 2651
• Gene Name: glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
• Gene Aliases: CCAT, CTRCT13, GCNT2C, GCNT5, IGNT, II, NACGT1, NAGCT1, ULG3, bA360O19.2, bA421M1.1
• Location: Chr.6:10521283-10629368 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GCNT2	NM_145649.4			NP_663624.1
	XM_005248999.2			XP_005249056.1
	XM_006715052.3			XP_006715115.1
	AB078432.1			BAC66781.1
	AF458024.1			AAM73864.1
	AK090483.1			BAC03464.1
	AK098105.1			BAC05234.1
	AK291767.1
	AK307329.1
	AK307337.1
	AK307373.1
	AL832714.1
	AY435145.1			AAR95646.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1030024	Chr.6:10516796 - 10567176 on Build GRCh38	Loss	GCNT2
nsv600988	Chr.6:10501021 - 10614845 on Build GRCh38	Loss	GCNT2
nsv966670	Chr.6:10447438 - 10871656 on Build GRCh38	Duplication	TMEM14C MAK MIR5689HG PAK1IP1 C6orf52 LOC101928106 GCNT2 TMEM14B
nsv1022072	Chr.6:10374492 - 10581628 on Build GRCh38	Gain	MIR5689 MIR5689HG TFAP2A-AS1 LOC101928106 LINC00518 GCNT2 TFAP2A
nsv5195	Chr.6:10515337 - 10549754 on Build GRCh38	Insertion	GCNT2
nsv600979	Chr.6:10449025 - 10839526 on Build GRCh38	Gain	TMEM14C MAK MIR5689HG PAK1IP1 C6orf52 LOC101928106 GCNT2 TMEM14B
dgv5918n100	Chr.6:10484627 - 10559867 on Build GRCh38	Loss	GCNT2
esv2667708	Chr.6:10213898 - 10574813 on Build GRCh38	Deletion	MIR5689 MIR5689HG TFAP2A-AS1 LOC101928106 LINC00518 GCNT2 TFAP2A
nsv470800	Chr.6:10538711 - 10863092 on Build GRCh38	Gain	TMEM14C MAK PAK1IP1 C6orf52 GCNT2 TMEM14B
esv2759406	Chr.6:10443564 - 10642899 on Build GRCh38	Loss	MIR5689HG LOC101928106 GCNT2
esv3570769	Chr.6:10495003 - 10581182 on Build GRCh38	Loss	GCNT2
dgv1165e214	Chr.6:10521953 - 10553306 on Build GRCh38	Loss	GCNT2

More Information

Additional Information:

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

Panther Classification:

Molecular Function -

glycosyltransferase

Gene Ontology Categories:

Process(es)

glycosaminoglycan biosynthetic process
protein glycosylation
transforming growth factor beta receptor signaling pathway
multicellular organism development
positive regulation of cell proliferation
posttranscriptional regulation of gene expression
positive regulation of epithelial to mesenchymal transition
negative regulation of cell-substrate adhesion
positive regulation of cell migration
positive regulation of heterotypic cell-cell adhesion
maintenance of lens transparency
positive regulation of protein kinase B signaling
positive regulation of ERK1 and ERK2 cascade

Function(s)

N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity