Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
192134
Gene name Gene Name - the full gene name approved by the HGNC.
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
B3GNT6
Synonyms (NCBI Gene) Gene synonyms aliases
B3Gn-T6, BGnT-6, beta-1,3-Gn-T6, beta3Gn-T6
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.5
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0005794 Component Golgi apparatus IBA 21873635
GO:0006486 Process Protein glycosylation IBA 21873635
GO:0008375 Function Acetylglucosaminyltransferase activity IBA 21873635
GO:0008376 Function Acetylgalactosaminyltransferase activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615315 24141 ENSG00000198488
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Schizophrenia Schizophrenia, Childhood rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
26508570
Associations from Text Mining
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