ALG9 (ALG9 alpha-1,2-mannosyltransferase)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79796
Gene name Gene Name - the full gene name approved by the HGNC.
ALG9 alpha-1,2-mannosyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ALG9
Synonyms (NCBI Gene) Gene synonyms aliases
CDG1L, DIBD1, GIKANIS, LOH11CR1J
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs2276263 G>A Benign, conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant, non coding transcript variant
rs45516107 G>A Benign-likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant, non coding transcript variant
rs121908022 C>T Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs121908023 T>C Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs786205134 A>T Pathogenic Splice donor variant, intron variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(711)
miRTarBase ID miRNA Experiments Reference
MIRT029830 hsa-miR-26b-5p Microarray 19088304
MIRT716042 hsa-miR-3121-3p HITS-CLIP 19536157
MIRT716041 hsa-miR-5196-3p HITS-CLIP 19536157
MIRT716040 hsa-miR-4793-5p HITS-CLIP 19536157
MIRT716039 hsa-miR-4766-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0000026 Function Alpha-1,2-mannosyltransferase activity IBA
GO:0000026 Function Alpha-1,2-mannosyltransferase activity TAS
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606941 15672 ENSG00000086848
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9H6U8
Protein name Alpha-1,2-mannosyltransferase ALG9 (EC 2.4.1.259) (EC 2.4.1.261) (Asparagine-linked glycosylation protein 9 homolog) (Disrupted in bipolar disorder protein 1) (Dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase) (Dol-P-Man:Man(8)GlcNAc(2)-PP-D
Protein function Mannosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked oligosaccharides begins on the cytosolic s
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03901 Glyco_transf_22 60 → 482 Alg9-like mannosyltransferase family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed; with highest levels in heart, liver and pancreas. {ECO:0000269|PubMed:12030331}.
Sequence
Sequence length 611
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  N-Glycan biosynthesis
Various types of N-glycan biosynthesis
Metabolic pathways 		  Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
Defective ALG9 causes ALG9-CDG (CDG-1l)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Polycystic kidney disease Polycystic kidney disease, adult type rs1592341222 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
congenital disorder of glycosylation Congenital disorder of glycosylation N/A N/A ClinVar
Gout Gout N/A N/A GWAS
Hypertension Hypertension N/A N/A GWAS
Polycystic liver disease Autosomal dominant polycystic liver disease N/A N/A ClinVar
Show/Hide Text Mining Associations (20)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 36320054
Colorectal Neoplasms Associate 24568449
Congenital disorder of glycosylation type 1L Associate 15148656, 23320427
Congenital Disorders of Glycosylation Associate 25966638
Cysts Associate 25966638, 31395617
Developmental Disabilities Associate 15148656
Familial paroxysmal dystonia Associate 32398770
HEM dysplasia Associate 25966638
Hepatomegaly Associate 15148656
Immunologic Deficiency Syndromes Associate 15148656