Gene Gene information from NCBI Gene database.
Entrez ID 727936
Gene name Glucoside xylosyltransferase 2
Gene symbol GXYLT2
Synonyms (NCBI Gene)
GLT8D4
Chromosome 3
Chromosome location 3p13
Summary The protein encoded by this gene is a xylosyltransferase that elongates O-linked glucose bound to epidermal growth factor (EGF) repeats. The encoded protein catalyzes the addition of xylose to the O-glucose-modified residues of EGF repeats of Notch protei
miRNA miRNA information provided by mirtarbase database.
468
miRTarBase ID miRNA Experiments Reference
MIRT030866 hsa-miR-21-5p Sequencing 20371350
MIRT691888 hsa-miR-605-5p HITS-CLIP 23313552
MIRT691887 hsa-miR-34b-3p HITS-CLIP 23313552
MIRT487532 hsa-miR-6808-5p HITS-CLIP 23313552
MIRT487531 hsa-miR-6893-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane TAS
GO:0016020 Component Membrane IEA
GO:0016266 Process Protein O-linked glycosylation via N-acetyl-galactosamine IBA
GO:0016266 Process Protein O-linked glycosylation via N-acetyl-galactosamine IDA 19940119
GO:0016266 Process Protein O-linked glycosylation via N-acetyl-galactosamine IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613322 33383 ENSG00000172986
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A0PJZ3
Protein name Glucoside xylosyltransferase 2 (EC 2.4.2.42) (Glycosyltransferase 8 domain-containing protein 4)
Protein function Glycosyltransferase which elongates the O-linked glucose attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of xylose.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01501 Glyco_transf_8 111 363 Glycosyl transferase family 8 Family
Sequence
MKLRSKAAALLLLALAALLLALLSLRAGRAEPPALPARPASAPQRHPAPVPARWPGPGAL
PGASPGVRRRRPPRPRPRAGRRGAARLEKLARRPGEPRSFQAVLPPELWIHLAVVACGNR
LEETLVMLKSAVLFSHRKIQFHIFTEDSLKPEFDKQLRQWPDSYTKKFEHRIYPITFSVG
NPQEWKKLFKPCAAQRLFLPVILKDVDSLLYVDTDVLFLRPVDDIWKLLRLFNSTQLAAM
APEHEIPKIGWYSRFARHPFYGSAGVNSGVMLMNLTRIRSTQFKNSMIPTGLAWEDMLYP
LYQKYKNAITWGDQDLLNIIFYFNPECLYVFPCQWNYRPDHCMYGSNCREAEHEGVSVLH
GNR
GVYHDDKQPTFRALYEAIRDFPFQDNLFQSMYYPLQLKFLETVHTLCGRIPQVFLKQ
IEKTMKRAYEKHVIIHVGPNQMH
Sequence length 443
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Other types of O-glycan biosynthesis  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
MYOCARDIAL INFARCTION GWAS catalog
★★☆☆☆
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
Atherosclerosis Atherosclerosis Pubtator 33782480 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 37986328 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 36063796 Associate
★☆☆☆☆
Found in Text Mining only
Dental Caries Dental caries Pubtator 29859070 Associate
★☆☆☆☆
Found in Text Mining only
Osteoporosis Osteoporosis Pubtator 33782480 Associate
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 34506251 Stimulate
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 37986328 Associate
★☆☆☆☆
Found in Text Mining only
Urinary Bladder Neoplasms Urinary bladder neoplasms Pubtator 36263004 Associate
★☆☆☆☆
Found in Text Mining only