Gene Gene information from NCBI Gene database.
Entrez ID 79796
Gene name ALG9 alpha-1,2-mannosyltransferase
Gene symbol ALG9
Synonyms (NCBI Gene)
CDG1LDIBD1GIKANISLOH11CR1J
Chromosome 11
Chromosome location 11q23.1
Summary 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.
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.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606941 15672 ENSG00000086848
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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.
  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)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
36
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ALG9 congenital disorder of glycosylation Likely pathogenic; Pathogenic rs2137107185, rs782379446, rs2136936118, rs2136827755, rs121908023, rs2496962569, rs2497297808, rs2497110387, rs2497298300, rs1964237631, rs2497784482 RCV001536021
RCV002031468
RCV001984553
RCV002271979
RCV000003947
View all (6 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ALG9-associated autosomal dominant polycystic kidney disease Pathogenic rs1324062430 RCV004786881
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ALG9-related disorder Likely pathogenic; Pathogenic rs782379446, rs121908023, rs2497476150 RCV004754832
RCV004754239
RCV003400006
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant polycystic liver disease Pathogenic rs782464678 RCV000844759
★★★★☆
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
Acute myeloid leukemia Uncertain significance; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALG9-CONGENITAL DISORDER OF GLYCOSYLATION GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE GenCC, Orphanet
GenCC, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE 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
ALG9-CDG Congenital Disorder Of Glycosylation Orphanet
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 36320054 Associate
★☆☆☆☆
Found in Text Mining only
Brachycephaly Brachycephaly HPO_DG
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
Cerebellar atrophy Cerebellar atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 24568449 Associate
★☆☆☆☆
Found in Text Mining only
Congenital disorder of glycosylation type 1L Congenital disorder of glycosylation BEFREE 15148656, 15945070, 28932688
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1L Congenital disorder of glycosylation UNIPROT_DG 15148656, 15945070
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1L Congenital disorder of glycosylation GENOMICS_ENGLAND_DG 15148656, 25966638, 27604308, 31420886
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1L Congenital disorder of glycosylation Pubtator 15148656, 23320427 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations