B3GNT4 (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4)

Gene

• Entrez ID: 79369
• Gene name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4
• Gene symbol: B3GNT4
• Synonyms (NCBI Gene): B3GN-T4, beta3Gn-T4
• Chromosome: 12
• Chromosome location: 12q24.31
• Summary: This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017781	hsa-miR-335-5p	Microarray	18185580
MIRT813345	hsa-miR-1256	CLIP-seq
MIRT813346	hsa-miR-3137	CLIP-seq
MIRT813347	hsa-miR-3686	CLIP-seq
MIRT813348	hsa-miR-4424	CLIP-seq
MIRT813349	hsa-miR-4642	CLIP-seq
MIRT813350	hsa-miR-4652-3p	CLIP-seq
MIRT813351	hsa-miR-4653-3p	CLIP-seq
MIRT813352	hsa-miR-4715-5p	CLIP-seq
MIRT813353	hsa-miR-4732-5p	CLIP-seq
MIRT813354	hsa-miR-548aa	CLIP-seq
MIRT813355	hsa-miR-548ac	CLIP-seq
MIRT813356	hsa-miR-548d-3p	CLIP-seq
MIRT813357	hsa-miR-548z	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0005794	Component	Golgi apparatus	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006493	Process	Protein O-linked glycosylation	IBA
GO:0008499	Function	N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity	IEA
GO:0008499	Function	N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity	TAS
GO:0008532	Function	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	IBA
GO:0008532	Function	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	IDA	11042166
GO:0008532	Function	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	IEA
GO:0008532	Function	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016266	Process	Protein O-linked glycosylation via N-acetyl-galactosamine	IEA
GO:0016266	Process	Protein O-linked glycosylation via N-acetyl-galactosamine	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0016758	Function	Hexosyltransferase activity	IEA
GO:0018146	Process	Keratan sulfate proteoglycan biosynthetic process	TAS
GO:0030311	Process	Poly-N-acetyllactosamine biosynthetic process	IBA
GO:0030311	Process	Poly-N-acetyllactosamine biosynthetic process	IDA	11042166

Other IDs

• MIM: 605864
• HGNC: 15683
• e!Ensembl: ENSG00000176383

Protein

• UniProt ID: Q9C0J1
• Protein name: N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4 (EC 2.4.1.149) (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4) (BGnT-4) (Beta-1,3-Gn-T4) (Beta-1,3-N-acetylglucosaminyltransferase 4) (Beta3Gn-T4)
• Protein function: Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Has activity for type 2 oligosaccharides.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01762	Galactosyl_T	132 → 323	Galactosyltransferase	Family

• Tissue specificity: TISSUE SPECIFICITY: Mainly expressed in brain tissues such as whole brain, hippocampus, amygdala, cerebellum and caudate nucleus. Also expressed in colon, esophagus and kidney. {ECO:0000269|PubMed:11042166}.
• Sequence:

  MLPPQPSAAHQGRGGRSGLLPKGPAMLCRLCWLVSYSLAVLLLGCLLFLRKAAKPAGDPT
  AHQPFWAPPTPRHSRCPPNHTVSSASLSLPSRHRLFLTYRHCRNFSILLEPSGCSKDTFL
  LLAIKSQPGHVERRAAIRSTWGRVGGWARGRQLKLVFLLGVAGSAPPAQLLAYESREFDD
  ILQWDFTEDFFNLTLKELHLQRWVVAACPQAHFMLKGDDDVFVHVPNVLEFLDGWDPAQD
  LLVGDVIRQALPNRNTKVKYFIPPSMYRATHYPPYAGGGGYVMSRATVRRLQAIMEDAEL
  FPIDDVFVGMCLRRLGLSPMHHAGFKTFGIRRPLDPLDPCLYRGLLLVHRLSPLEMWTMW
  ALVTDEGLKCAAGPIPQR

• Sequence length: 378

Pathways

KEGG:

Glycosphingolipid biosynthesis - lacto and neolacto series
Metabolic pathways

Reactome:

Keratan sulfate biosynthesis
O-linked glycosylation of mucins

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DEAFNESS, AUTOSOMAL DOMINANT 64	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING IMPAIRMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35817785	Associate	★☆☆☆☆ Found in Text Mining only