Gene Gene information from NCBI Gene database.
Entrez ID 83468
Gene name Glycosyltransferase 8 domain containing 2
Gene symbol GLT8D2
Synonyms (NCBI Gene)
-
Chromosome 12
Chromosome location 12q23.3
miRNA miRNA information provided by mirtarbase database.
3
miRTarBase ID miRNA Experiments Reference
MIRT025660 hsa-miR-7-5p Microarray 17612493
MIRT1021755 hsa-miR-4307 CLIP-seq
MIRT1021756 hsa-miR-4704-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0005794 Component Golgi apparatus IBA
GO:0008194 Function UDP-glycosyltransferase activity IEA
GO:0016020 Component Membrane IEA
GO:0016740 Function Transferase activity IEA
GO:0016757 Function Glycosyltransferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H1C3
Protein name Glycosyltransferase 8 domain-containing protein 2 (EC 2.4.1.-)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01501 Glyco_transf_8 52 324 Glycosyl transferase family 8 Family
Sequence
Sequence length 349
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Marfanoid habitus and intellectual disability Uncertain significance rs1212627359 RCV000850424
Thyroid cancer, nonmedullary, 1 Uncertain significance rs372103586 RCV005932164
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Neoplasms Associate 22581838, 37277853
Non alcoholic Fatty Liver Disease Associate 24173238
Skin Neoplasms Associate 22581838
Stomach Neoplasms Stimulate 37277853