Gene
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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CDG1L, GIKANIS
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.
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.
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.
GO ID Ontology Definition Evidence Reference
GO:0000026 Function Alpha-1,2-mannosyltransferase activity IBA 21873635
GO:0000026 Function Alpha-1,2-mannosyltransferase activity TAS
GO:0000030 Function Mannosyltransferase activity IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane IBA 21873635
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606941 15672 ENSG00000086848
Protein
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.
  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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Congenital disorder of glycosylation Congenital disorder of glycosylation type 1L, ALG9-CDG rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406
View all (80 more)
15148656, 27604308, 31420886, 25966638, 15945070
Congenital heart defects Congenital Heart Defects rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321
View all (13 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Epileptic encephalopathy Epileptic encephalopathy rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625
View all (860 more)
Unknown
Disease term Disease name Evidence References Source
Pulmonary hypoplasia Congenital hypoplasia of lung ClinVar
Gout Gout GWAS
Hypertension Hypertension GWAS
Associations from Text Mining
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