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Aliases for ALG2 Gene

Aliases for ALG2 Gene

  • ALG2, Alpha-1,3/1,6-Mannosyltransferase 2 3 5
  • Asparagine-Linked Glycosylation 2 Homolog (Yeast, Alpha-1,3-Mannosyltransferase) 2 3
  • GDP-Man:Man(1)GlcNAc(2)-PP-Dol Alpha-1,3-Mannosyltransferase 3 4
  • GDP-Man:Man(2)GlcNAc(2)-PP-Dol Alpha-1,6-Mannosyltransferase 3 4
  • GDP-Man:Man(1)GlcNAc(2)-PP-Dolichol Mannosyltransferase 3 4
  • Asparagine-Linked Glycosylation Protein 2 Homolog 3 4
  • Asparagine-Linked Glycosylation 2 Homolog (S. Cerevisiae, Alpha-1,3-Mannosyltransferase) 3
  • Asparagine-Linked Glycosylation 2, Alpha-1,3-Mannosyltransferase Homolog (S. Cerevisiae) 2
  • Asparagine-Linked Glycosylation 2, Alpha-1,3-Mannosyltransferase Homolog 3
  • Alpha-1,3/1,6-Mannosyltransferase ALG2 3
  • Alpha-1,3-Mannosyltransferase ALG2 3
  • Homolog Of Yeast ALG2 3
  • EC 4
  • EC 4
  • CMSTA3 3
  • HALPG2 3
  • CDG1I 3
  • CDGIi 3
  • CMS14 3
  • NET38 3

External Ids for ALG2 Gene

Previous GeneCards Identifiers for ALG2 Gene

  • GC09M095436
  • GC09M097359
  • GC09M097358
  • GC09M099058
  • GC09M101018
  • GC09M101978
  • GC09M071577

Summaries for ALG2 Gene

Entrez Gene Summary for ALG2 Gene

  • This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]

GeneCards Summary for ALG2 Gene

ALG2 (ALG2, Alpha-1,3/1,6-Mannosyltransferase) is a Protein Coding gene. Diseases associated with ALG2 include Congenital Disorder Of Glycosylation, Type Ii and Myasthenic Syndrome, Congenital, 14. Among its related pathways are N-Glycan biosynthesis and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and calcium-dependent protein binding.

UniProtKB/Swiss-Prot for ALG2 Gene

  • Mannosylates Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate.

Gene Wiki entry for ALG2 Gene

Additional gene information for ALG2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALG2 Gene

Genomics for ALG2 Gene

GeneHancer (GH) Regulatory Elements for ALG2 Gene

Promoters and enhancers for ALG2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J099220 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.7 -0.4 -377 3.5 HDGF PKNOX1 CLOCK SMAD1 ARNT ZFP64 SIN3A DMAP1 ZBTB7B YY1 ALG2 GC09M099222 PIR31591 SEC61B KRT8P11 GC09M099229
GH09J099257 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -37.2 -37187 3.4 PKNOX1 ATF1 ZBTB40 YY1 ZNF766 RXRA CEBPB REST ZNF592 NR2F2 INVS SEC61B ALG2 STX17 KRT8P11 GC09P099237 RN7SKP225
GH09J099181 Enhancer 1.3 FANTOM5 Ensembl ENCODE 13.1 +40.2 40212 1.1 STAT5A BMI1 BATF KLF5 IRF4 ZNF207 ZNF143 ATF7 ETV6 IKZF2 LOC105376174 ALG2 STX17 SEC61B RNA5SP290 GC09M099146
GH09J099252 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -31.4 -31411 2.3 HDGF PKNOX1 STAT5A BATF KLF5 IRF4 ZNF207 ZNF143 ATF7 ETV6 SEC61B ALG2 GC09P099237 RN7SKP225
GH09J099266 Enhancer 1.4 FANTOM5 Ensembl ENCODE 11.8 -44.7 -44735 0.6 ATF1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 IRF4 ZNF48 SLC30A9 SEC61B ALG2 RN7SKP225 GC09P099237
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ALG2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ALG2 gene promoter:

Genomic Locations for ALG2 Gene

Genomic Locations for ALG2 Gene
5,540 bases
Minus strand

Genomic View for ALG2 Gene

Genes around ALG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALG2 Gene

Proteins for ALG2 Gene

  • Protein details for ALG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Alpha-1,3/1,6-mannosyltransferase ALG2
    Protein Accession:
    Secondary Accessions:
    • A2A2Y0
    • Q8NBX2
    • Q8NC39

    Protein attributes for ALG2 Gene

    416 amino acids
    Molecular mass:
    47092 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ALG2 Gene


neXtProt entry for ALG2 Gene

Post-translational modifications for ALG2 Gene

  • Ubiquitination at posLast=4848
  • Modification sites at PhosphoSitePlus

Other Protein References for ALG2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ALG2 Gene

Domains & Families for ALG2 Gene

Gene Families for ALG2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ALG2 Gene

Suggested Antigen Peptide Sequences for ALG2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily.
  • Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily.
genes like me logo Genes that share domains with ALG2: view

Function for ALG2 Gene

Molecular function for ALG2 Gene

UniProtKB/Swiss-Prot Function:
Mannosylates Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
GDP-D-mannose + D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol = GDP + D-Man-alpha-(1->3)-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-GlcNAc-diphosphodolichol.
UniProtKB/Swiss-Prot CatalyticActivity:
GDP-D-mannose + D-Man-alpha-(1->3)-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol = GDP + D-Man-alpha-(1->3)-(D-Man-alpha-(1->6))-D-Man-beta-(1->4)-D-GlcNAc-beta-(1->4)-D-GlcNAc-diphosphodolichol.

Enzyme Numbers (IUBMB) for ALG2 Gene

Gene Ontology (GO) - Molecular Function for ALG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000033 alpha-1,3-mannosyltransferase activity TAS --
GO:0004378 GDP-Man:Man1GlcNAc2-PP-Dol alpha-1,3-mannosyltransferase activity IEA --
GO:0005515 protein binding IPI 11883939
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IBA,IEA --
genes like me logo Genes that share ontologies with ALG2: view
genes like me logo Genes that share phenotypes with ALG2: view

Human Phenotype Ontology for ALG2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ALG2 Gene

MGI Knock Outs for ALG2:
  • Alg2 Alg2<tm1.1(KOMP)Vlcg>
  • Alg2 Alg2<tm1Lex>

Animal Model Products

  • Taconic Biosciences Mouse Models for ALG2

Clone Products

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for ALG2 Gene

Localization for ALG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALG2 Gene

Membrane; Single-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALG2 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 4
cytoskeleton 2
golgi apparatus 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (4)
  • Cytosol (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ALG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 11278427
GO:0005737 cytoplasm IDA 11278427
GO:0005789 endoplasmic reticulum membrane TAS,IBA --
GO:0005829 cytosol IDA --
GO:0015629 actin cytoskeleton IDA --
genes like me logo Genes that share ontologies with ALG2: view

Pathways & Interactions for ALG2 Gene

genes like me logo Genes that share pathways with ALG2: view

UniProtKB/Swiss-Prot Q9H553-ALG2_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for ALG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0006490 oligosaccharide-lipid intermediate biosynthetic process IBA --
GO:0033577 protein glycosylation in endoplasmic reticulum IGI 12684507
GO:0051592 response to calcium ion IDA 12445460
genes like me logo Genes that share ontologies with ALG2: view

No data available for SIGNOR curated interactions for ALG2 Gene

Drugs & Compounds for ALG2 Gene

(1) Drugs for ALG2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0

(2) Additional Compounds for ALG2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Dolichol
  • Dolichol (C100)
  • Dolichol 20
  • Dolichol phosphate
  • Dolichyl phosphate
Guanosine diphosphate mannose
  • GDP-D-Mannose
  • GDPmannose
  • Guanosine 5'-(trihydrogen diphosphate), mono-alpha-D-mannopyranosyl ester
  • Guanosine diphosphomannose
  • Guanosine pyrophosphate mannose
genes like me logo Genes that share compounds with ALG2: view

Transcripts for ALG2 Gene

mRNA/cDNA for ALG2 Gene

(201) Selected AceView cDNA sequences:
(9) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ALG2 Gene

ALG2, alpha-1,3/1,6-mannosyltransferase:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALG2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c
SP1: -
SP3: - -

Relevant External Links for ALG2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ALG2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALG2 Gene

Protein differential expression in normal tissues from HIPED for ALG2 Gene

This gene is overexpressed in Stomach (15.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALG2 Gene

Protein tissue co-expression partners for ALG2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ALG2 Gene:


SOURCE GeneReport for Unigene cluster for ALG2 Gene:


Evidence on tissue expression from TISSUES for ALG2 Gene

  • Nervous system(3.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALG2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • neck
  • lung
  • rib
  • rib cage
  • kidney
  • liver
  • pelvis
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
  • blood
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with ALG2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ALG2 Gene

Orthologs for ALG2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALG2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ALG2 34 33
  • 99.36 (n)
(Canis familiaris)
Mammalia ALG2 34 33
  • 89.98 (n)
(Bos Taurus)
Mammalia ALG2 34 33
  • 88.54 (n)
(Mus musculus)
Mammalia Alg2 16 34 33
  • 82.49 (n)
(Rattus norvegicus)
Mammalia Alg2 33
  • 81.85 (n)
(Monodelphis domestica)
Mammalia ALG2 34
  • 79 (a)
(Ornithorhynchus anatinus)
Mammalia ALG2 34
  • 73 (a)
(Gallus gallus)
Aves ALG2 34 33
  • 70.86 (n)
(Anolis carolinensis)
Reptilia ALG2 34
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia alg2 33
  • 66.58 (n)
(Danio rerio)
Actinopterygii alg2 34 33
  • 64.3 (n)
Dr.18620 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001232 33
  • 56.99 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1291 34 33
  • 55.78 (n)
(Caenorhabditis elegans)
Secernentea F09E5.2 33
  • 51.31 (n)
bus-8 34
  • 27 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL098W 33
  • 49.83 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B02420g 33
  • 49.43 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG2 34 33
  • 49.28 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G78800 33
  • 51.91 (n)
(Oryza sativa)
Liliopsida Os04g0589600 33
  • 52.49 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2651 34
  • 52 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03503 33
  • 50.59 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes alg2 33
  • 48.16 (n)
Species where no ortholog for ALG2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ALG2 Gene

Gene Tree for ALG2 (if available)
Gene Tree for ALG2 (if available)
Evolutionary constrained regions (ECRs) for ALG2: view image

Paralogs for ALG2 Gene

No data available for Paralogs for ALG2 Gene

Variants for ALG2 Gene

Sequence variations from dbSNP and Humsavar for ALG2 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs11545137 benign, likely-benign, not specified, Congenital disorder of glycosylation 99,221,864(-) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs138258236 uncertain-significance, Congenital disorder of glycosylation, Congenital disorder of glycosylation type 1I, Myasthenic syndrome, congenital, 14 99,218,011(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs139943534 uncertain-significance, Congenital disorder of glycosylation 99,216,462(-) AATA/A 3_prime_UTR_variant, non_coding_transcript_variant
rs140382423 uncertain-significance, Congenital disorder of glycosylation 99,218,713(-) G/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs142781699 uncertain-significance, Congenital disorder of glycosylation 99,217,512(-) T/C 3_prime_UTR_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ALG2 Gene

Variant ID Type Subtype PubMed ID
esv3621214 CNV gain 21293372
nsv473959 CNV novel sequence insertion 20440878
nsv831666 CNV gain 17160897

Variation tolerance for ALG2 Gene

Residual Variation Intolerance Score: 44.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.85; 58.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALG2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALG2 Gene

Disorders for ALG2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for ALG2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards


  • Congenital disorder of glycosylation 1I (CDG1I) [MIM:607906]: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269 PubMed:12684507}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myasthenic syndrome, congenital, 14 (CMS14) [MIM:616228]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS14 is an autosomal recessive form characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound. {ECO:0000269 PubMed:23404334}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ALG2

genes like me logo Genes that share disorders with ALG2: view

No data available for Genatlas for ALG2 Gene

Publications for ALG2 Gene

  1. Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. (PMID: 23404334) Cossins J … Beeson D (Brain : a journal of neurology 2013) 2 3 4 58
  2. A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis. (PMID: 12684507) Thiel C … Körner C (The Journal of biological chemistry 2003) 2 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for ALG2 Gene

Sources for ALG2 Gene

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