Hs01655313_cn

• Gene Symbol: B3GNT5
• Assay Reference Genome Location: Chr.3:183269584 on build GRCh38
• Cytoband: 3q27.1

Target Gene Details

• Entrez Gene ID: 84002
• Gene Name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5
• Gene Aliases: B3GN-T5, beta3Gn-T5
• Location: Chr.3:183253207-183273391 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
B3GNT5	NM_032047.4	2	316	NP_114436.1
	XM_005247823.4	2	521	XP_005247880.1
	XM_005247824.3	3	575	XP_005247881.1
	XM_005247825.3	3	459	XP_005247882.1
	XM_011513225.2	2	955	XP_011511527.1
	XM_011513226.2	3	432	XP_011511528.1
	XM_011513227.2	3	466	XP_011511529.1
	XM_011513228.2	2	367	XP_011511530.1
	XM_011513229.2	2	221	XP_011511531.1
	XM_017007309.1	3	1589	XP_016862798.1
	AB209517.1	2	134	BAD92754.1
	AF368169.1	1	249	AAK53403.1
	AK074424.1	2	303
	AK091474.1	2	503
	BP270576.1	2	316

Target Gene Details

• Entrez Gene ID: 23101
• Gene Name: MCF.2 cell line derived transforming sequence-like 2
• Gene Aliases: ARHGEF22
• Location: Chr.3:183176116-183428990 on Build GRCh38
• Assay Gene Location: Within Intron 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MCF2L2	NM_015078.3			NP_055893.3
	XM_011512585.2			XP_011510887.1
	XM_011512586.2			XP_011510888.1
	XM_017005943.1			XP_016861432.1
	XM_017005945.1			XP_016861434.1
	XM_017005946.1			XP_016861435.1
	AB020668.1			BAA74884.1
	AK301698.1
	AY172737.1			AAO19651.1
	BC064632.1			AAH64632.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3893833	Chr.3:183130677 - 183342208 on Build GRCh38	Gain	B3GNT5 MCF2L2 LAMP3
nsv1006872	Chr.3:183194738 - 183548501 on Build GRCh38	Loss	KLHL6 LINC00888 B3GNT5 MCF2L2

More Information

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

Panther Classification:

Molecular Function -

glycosyltransferase, guanyl-nucleotide exchange factor

Gene Ontology Categories:

Process(es)

protein glycosylation
central nervous system development
brain development
glycolipid biosynthetic process
O-glycan processing
regulation of Rho protein signal transduction
positive regulation of GTPase activity

Function(s)

beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity
UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity
lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity
Rho guanyl-nucleotide exchange factor activity