Gene Gene information from NCBI Gene database.
Entrez ID 8702
Gene name Beta-1,4-galactosyltransferase 4
Gene symbol B4GALT4
Synonyms (NCBI Gene)
B4Gal-T4beta4Gal-T4
Chromosome 3
Chromosome location 3q13.32
Summary This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to si
miRNA miRNA information provided by mirtarbase database.
167
miRTarBase ID miRNA Experiments Reference
MIRT813882 hsa-miR-1251 CLIP-seq
MIRT813883 hsa-miR-1324 CLIP-seq
MIRT813884 hsa-miR-137 CLIP-seq
MIRT813885 hsa-miR-181a CLIP-seq
MIRT813886 hsa-miR-181b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 32827291
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0001572 Process Lactosylceramide biosynthetic process IDA 9792633
GO:0003945 Function N-acetyllactosamine synthase activity IDA 9792633
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604015 927 ENSG00000121578
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60513
Protein name Beta-1,4-galactosyltransferase 4 (Beta-1,4-GalTase 4) (Beta4Gal-T4) (b4Gal-T4) (EC 2.4.1.-) (Beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase) (Lactotriaosylceramide beta-1,4-galactosyltransferase) (EC 2.4.1.275) (N-acetyllactosamine sy
Protein function Galactose (Gal) transferase involved in the synthesis of terminal N-acetyllactosamine (LacNac) unit present on glycan chains of glycoproteins and glycosphingolipids (PubMed:12511560, PubMed:17690104, PubMed:32827291, PubMed:9792633). Catalyzes t
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13733 Glyco_transf_7N 77 209 N-terminal region of glycosyl transferase group 7 Domain
PF02709 Glyco_transf_7C 213 290 N-terminal domain of galactosyltransferase Family
Tissue specificity TISSUE SPECIFICITY: Highest expression is observed in placenta, pancreas, kidney and heart (PubMed:9792633). Expressed in corneal epithelial cells (PubMed:17690104). {ECO:0000269|PubMed:17690104, ECO:0000269|PubMed:9792633}.
Sequence
Sequence length 344
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycosaminoglycan biosynthesis - keratan sulfate
Glycosphingolipid biosynthesis - lacto and neolacto series
Metabolic pathways
  Keratan sulfate biosynthesis
N-Glycan antennae elongation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Uncertain significance rs376308286 RCV005939066
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 25124574
Carcinoma Renal Cell Associate 33850477
Colorectal Neoplasms Associate 28228616, 30082623