Gene Gene information from NCBI Gene database.
Entrez ID 192134
Gene name UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6
Gene symbol B3GNT6
Synonyms (NCBI Gene)
B3Gn-T6BGnT-6beta-13-Gn-T6beta3Gn-T6
Chromosome 11
Chromosome location 11q13.5
Summary The protein encoded by this gene is a beta-1,3-N-acetylglucosaminyltransferase that adds an N-acetylglucosamine moiety to N-acetylgalactosamine-modified serine or threonine. The encoded enzyme is responsible for creating the core 3 structure of O-glycans,
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs781821239 C>G,T Likely-pathogenic Missense variant, coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
276
miRTarBase ID miRNA Experiments Reference
MIRT613466 hsa-miR-3614-5p HITS-CLIP 23824327
MIRT613465 hsa-miR-6500-3p HITS-CLIP 23824327
MIRT613464 hsa-miR-3909 HITS-CLIP 23824327
MIRT613463 hsa-miR-6852-3p HITS-CLIP 23824327
MIRT613462 hsa-miR-548aw HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615315 24141 ENSG00000198488
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ZMB0
Protein name Acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase (EC 2.4.1.147) (Core 3 synthase) (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6) (BGnT-6) (Beta-1,3-Gn-T6) (Beta-1,3-N-acetylglucosaminyltransferase 6) (
Protein function Beta-1,3-N-acetylglucosaminyltransferase that synthesizes the core 3 structure of the O-glycan, an important precursor in the biosynthesis of mucin-type glycoproteins. Plays an important role in the synthesis of mucin-type O-glycans in digestive
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01762 Galactosyl_T 131 327 Galactosyltransferase Family
Tissue specificity TISSUE SPECIFICITY: Present in stomach and colon (at protein level). Restricted in the stomach, colon and small intestine, where core 3 structure is present. {ECO:0000269|PubMed:15755813}.
Sequence
MAFPCRRSLTAKTLACLLVGVSFLALQQWFLQAPRSPREERSPQEETPEGPTDAPAADEP
PSELVPGPPCVANASANATADFEQLPARIQDFLRYRHCRHFPLLWDAPAKCAGGRGVFLL
LAVKSAPEHYERRELIRRTWGQERSYGGRPVRRLFLLGTPGPEDEARAERLAELVALEAR
EHGDVLQWAFADTFLNLTLKHLHLLDWLAARCPHARFLLSGDDDVFVHTANVVRFLQAQP
PGRHLFSGQLMEGSVPIRDSWSKYFVPPQLFPGSAYPVYCSGGGFLLSGPTARALRAAAR
HTPLFPIDDAYMGMCLERAGLAPSGHE
GIRPFGVQLPGAQQSSFDPCMYRELLLVHRFAP
YEMLLMWKALHSPALSCDRGHRVS
Sequence length 384
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Mucin type O-glycan biosynthesis
Metabolic pathways
  O-linked glycosylation of mucins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Childhood-onset schizophrenia Likely pathogenic rs781821239 RCV000202346
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 33253272
Carcinogenesis Associate 33253272
Carcinoma Pancreatic Ductal Associate 33253272
Chromosomal Instability Associate 35387659
Colorectal Neoplasms Associate 24189147, 36855796
Colorectal Neoplasms Inhibit 35387659
Neoplasm Metastasis Inhibit 23754791
Neoplasm Metastasis Associate 36855796
Neoplasms Inhibit 23754791
Neoplasms Associate 24189147