Gene Gene information from NCBI Gene database.
Entrez ID 84920
Gene name ALG10 alpha-1,2-glucosyltransferase
Gene symbol ALG10
Synonyms (NCBI Gene)
ALG10ADIE2KCR1
Chromosome 12
Chromosome location 12p11.1
Summary This gene encodes a membrane-associated protein that adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. That is, it transfers the terminal glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the l
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs121908850 G>A,T Risk-factor Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
234
miRTarBase ID miRNA Experiments Reference
MIRT024467 hsa-miR-215-5p Microarray 19074876
MIRT026608 hsa-miR-192-5p Microarray 19074876
MIRT777902 hsa-miR-1182 CLIP-seq
MIRT777903 hsa-miR-122 CLIP-seq
MIRT777904 hsa-miR-1269 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
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:0006486 Process Protein glycosylation IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618355 23162 ENSG00000139133
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5BKT4
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-A) (Asparagine-linked glycosylation protein 10 homolog A)
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
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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ALG10-related disorder Likely benign; Benign rs1377334596, rs56393741, rs77450248 RCV003924028
RCV003974012
RCV003916232
Long QT syndrome 2 Benign rs121908850 RCV000006869
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Colorectal Neoplasms Associate 35680565
Epileptic Encephalopathy Early Infantile 3 Associate 33798445
Neoplasms Associate 36879254
Rectal Neoplasms Associate 36879254