GLT8D2 (glycosyltransferase 8 domain containing 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (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
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (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.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (4)
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
CIRRHOSIS OF LIVER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KERATOCONUS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Marfanoid habitus and intellectual disability Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1 Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Liver Cirrhosis Liver Cirrhosis GWASCAT_DG 22841784
★★★★★
★☆☆☆☆
Found in Text Mining only
Liver Cirrhosis Liver Cirrhosis GWASDB_DG 22841784
★★★★★
★☆☆☆☆
Found in Text Mining only
Skin Neoplasms Skin neoplasm Pubtator 22581838 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 37277853 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only