Gene Gene information from NCBI Gene database.
Entrez ID 144245
Gene name ALG10 alpha-1,2-glucosyltransferase B
Gene symbol ALG10B
Synonyms (NCBI Gene)
ALG10KCR1
Chromosome 12
Chromosome location 12q12
miRNA miRNA information provided by mirtarbase database.
856
miRTarBase ID miRNA Experiments Reference
MIRT026560 hsa-miR-192-5p Microarray 19074876
MIRT050088 hsa-miR-26a-5p CLASH 23622248
MIRT695049 hsa-miR-6808-5p HITS-CLIP 23313552
MIRT695048 hsa-miR-6893-5p HITS-CLIP 23313552
MIRT695047 hsa-miR-940 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005783 Component Endoplasmic reticulum IBA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005789 Component Endoplasmic reticulum membrane IGI 20950623
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603313 31088 ENSG00000175548
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5I7T1
Protein name Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase (EC 2.4.1.256) (Alpha-1,2-glucosyltransferase ALG10-A) (Alpha-2-glucosyltransferase ALG10-B) (Asparagine-linked glycosylation protein 10 homolog B) (Potassium channel regulator 1)
Protein function Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04922 DIE2_ALG10 31 427 DIE2/ALG10 family Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in heart, placenta, liver, kidney and pancreas. Weakly expressed in lung, skeletal muscle and brain. {ECO:0000269|PubMed:14525949}.
Sequence
Sequence length 473
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  N-Glycan biosynthesis
Metabolic pathways
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
ATYPICAL FEMORAL FRACTURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LONG QT SYNDROME 2 CTD, ClinVar, Disgenet, GWAS catalog
CTD, ClinVar, Disgenet, GWAS catalog
CTD, ClinVar, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS 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
Colorectal Neoplasms Colorectal neoplasm Pubtator 35680565 Associate
★☆☆☆☆
Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3 Developmental and epileptic encephalopathy Pubtator 33798445 Associate
★☆☆☆☆
Found in Text Mining only
Long QT Syndrome Long QT Syndrome BEFREE 20950623
★☆☆☆☆
Found in Text Mining only
Long QT Syndrome Long qt syndrome Pubtator 37071726 Associate
★☆☆☆☆
Found in Text Mining only
Long Qt Syndrome 2 Long qt syndrome Pubtator 37071726 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Long Qt Syndrome 2 Long QT Syndrome CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Long Qt Syndrome 2 Long QT Syndrome GENOMICS_ENGLAND_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Long Qt Syndrome 2 Long QT Syndrome CTD_human_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Torsades de Pointes Torsades de Pointes HPO_DG
★☆☆☆☆
Found in Text Mining only
Ventricular Fibrillation Ventricular Fibrillation BEFREE 20950623
★☆☆☆☆
Found in Text Mining only