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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
363
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ALG9 congenital disorder of glycosylation Likely pathogenic; Pathogenic rs2137107185, rs782379446, rs2136936118, rs2136827755, rs121908023, rs2496962569, rs2497297808, rs2497110387, rs2497298300, rs1964237631, rs2497784482 RCV001536021
RCV002031468
RCV001984553
RCV002271979
RCV000003947
RCV002829615
RCV002839120
RCV002833320
RCV003007723
RCV003059259
RCV003991320
ALG9-associated autosomal dominant polycystic kidney disease Pathogenic rs1324062430 RCV004786881
ALG9-related disorder Likely pathogenic; Pathogenic rs782379446, rs121908023, rs2497476150 RCV004754832
RCV004754239
RCV003400006
Autosomal dominant polycystic liver disease Pathogenic rs782464678 RCV000844759
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Uncertain significance; Benign rs2554994, rs546089281, rs376483443 RCV005891940
RCV005896441
RCV005913687
Cervical cancer Likely benign rs45475694, rs1991303 RCV005916420
RCV005917641
Cholangiocarcinoma Benign rs546089281 RCV005896443
Congenital disorder of glycosylation Uncertain significance; Likely benign; Conflicting classifications of pathogenicity rs886047666, rs782298169, rs3833761, rs886047663, rs886047672, rs534577430, rs150703313, rs371625196, rs782323400, rs886047668, rs886047671, rs782618635, rs782084496, rs573760463, rs886047664
View all (5 more)
RCV000363122
RCV000375575
RCV000263848
RCV000302692
RCV000296484
RCV000401254
RCV000368486
RCV000383905
RCV000348407
RCV000384714
RCV000388364
RCV000340766
RCV000274374
RCV000288294
RCV000359530
RCV000267404
RCV000324881
RCV000292804
RCV000331541
RCV000272683
RCV000276255
Associations from Text MiningDisease 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