Gene Gene information from NCBI Gene database.
Entrez ID 7368
Gene name UDP glycosyltransferase 8
Gene symbol UGT8
Synonyms (NCBI Gene)
CGTUGT4
Chromosome 4
Chromosome location 4q26
Summary The protein encoded by this gene belongs to the UDP-glycosyltransferase family. It catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of
miRNA miRNA information provided by mirtarbase database.
467
miRTarBase ID miRNA Experiments Reference
MIRT001581 hsa-let-7b-5p pSILAC 18668040
MIRT019304 hsa-miR-148b-3p Microarray 17612493
MIRT020506 hsa-miR-155-5p Proteomics 18668040
MIRT023508 hsa-miR-1-3p Proteomics 18668040
MIRT024598 hsa-miR-215-5p Microarray 19074876
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0002175 Process Protein localization to paranode region of axon IEA
GO:0003851 Function N-acylsphingosine galactosyltransferase activity IBA
GO:0003851 Function N-acylsphingosine galactosyltransferase activity IEA
GO:0003851 Function N-acylsphingosine galactosyltransferase activity ISS
GO:0003851 Function N-acylsphingosine galactosyltransferase activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601291 12555 ENSG00000174607
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16880
Protein name 2-hydroxyacylsphingosine 1-beta-galactosyltransferase (EC 2.4.1.47) (Ceramide UDP-galactosyltransferase) (Cerebroside synthase) (UDP-galactose-ceramide galactosyltransferase)
Protein function Catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central nervous system and peripheral nervous system (PubMed:9125199
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00201 UDPGT 21 510 UDP-glucoronosyl and UDP-glucosyl transferase Family
Sequence
Sequence length 541
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ether lipid metabolism
Sphingolipid metabolism
Metabolic pathways
  Glycosphingolipid metabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BLADDER CALCULUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BUNDLE BRANCH BLOCK GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 10223563
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 18780893
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31409741
★☆☆☆☆
Found in Text Mining only
Adult Oligodendroglioma Oligodendroglioma BEFREE 24821492
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 25075448
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 35454332, 37188790 Associate
★☆☆☆☆
Found in Text Mining only
Anthracosis Anthracosis BEFREE 21471543
★☆☆☆☆
Found in Text Mining only
Brain Tumor, Primary Brain Neoplasms BEFREE 26124340
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 20648017, 24391908, 29728441, 29748526
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 19125296, 20648017 Associate
★☆☆☆☆
Found in Text Mining only