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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, Alpha-1,3-Mannosyltransferase Homolog (S. Cerevisiae) 2
  • Asparagine-Linked Glycosylation 2 Homolog (S. Cerevisiae, Alpha-1,3-Mannosyltransferase) 3
  • 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 2.4.1.132 4
  • EC 2.4.1.257 4
  • EC 2.4.1 61
  • 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, With Tubular Aggregates. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. 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

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

Genomics for ALG2 Gene

Regulatory Elements for ALG2 Gene

Enhancers for ALG2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F099180 1.4 FANTOM5 Ensembl ENCODE 13 +40.4 40413 1.5 TBL1XR1 MAX BMI1 RELA POLR2A EED ZNF207 ETV6 CREM CHD2 ALG2 STX17 SEC61B LOC105376174 GC09M099146 RNA5SP290
GH09F099266 1.5 FANTOM5 Ensembl ENCODE 11.8 -44.8 -44835 0.8 MLX ARID4B DMAP1 ZNF48 ZNF2 SLC30A9 GLIS2 ZNF143 FOS MXD4 ALG2 SEC61B RN7SKP225 GC09P099237
GH09F099257 1.4 FANTOM5 Ensembl ENCODE 11.8 -37.2 -37187 3.4 ATF1 PKNOX1 CBX3 USF1 ZBTB40 RELA YY1 POLR2A E2F6 RNF2 ALG2 SEC61B KRT8P11 GC09P099237 RN7SKP225
GH09F099252 1.4 FANTOM5 Ensembl ENCODE 11.3 -31.4 -31412 2.3 HDGF TBP PKNOX1 TBL1XR1 WRNIP1 ZNF143 ZNF207 ETV6 CREM CBFB ALG2 SEC61B GC09P099237 RN7SKP225
GH09F099244 1.2 FANTOM5 ENCODE 11.9 -23.2 -23159 0.2 HDGF TBP PKNOX1 TSC22D4 YBX1 BMI1 RELA ZNF366 EED ETV6 ALG2 SEC61B GC09P099237 RN7SKP225
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ALG2 on UCSC Golden Path with GeneCards custom track

Promoters for ALG2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001309948 64 3401 HDGF PKNOX1 CREB3L1 WRNIP1 ZFP64 SIN3A DMAP1 YY1 ZNF143 ZNF207

Genomic Location for ALG2 Gene

Chromosome:
9
Start:
99,216,425 bp from pter
End:
99,221,964 bp from pter
Size:
5,540 bases
Orientation:
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:
    Q9H553-ALG2_HUMAN
    Recommended name:
    Alpha-1,3/1,6-mannosyltransferase ALG2
    Protein Accession:
    Q9H553
    Secondary Accessions:
    • A2A2Y0
    • Q8NBX2
    • Q8NC39

    Protein attributes for ALG2 Gene

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

    Alternative splice isoforms for ALG2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALG2 Gene

Selected DME Specific Peptides for ALG2 Gene

Q9H553:
  • EHFGIVPLEAM
  • GGAERLV
  • FYCHFPD
  • LSINRYERKK

Post-translational modifications for ALG2 Gene

  • Ubiquitination at Lys 48
  • Modification sites at PhosphoSitePlus

Other Protein References for ALG2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ALG2 Gene

Gene Families for ALG2 Gene

Protein Domains for ALG2 Gene

Suggested Antigen Peptide Sequences for ALG2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H553

UniProtKB/Swiss-Prot:

ALG2_HUMAN :
  • Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily.
Family:
  • 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 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.
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.

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 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 tm1.1(KOMP)Vlcg

Animal Model Products

  • Taconic Biosciences Mouse Models for ALG2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for 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

COMPARTMENTS
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

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 --
GO:0016020 membrane IEA,IDA 16996505
GO:0016021 integral component of membrane IEA --
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:0033577 protein glycosylation in endoplasmic reticulum IGI 12684507
GO:0051592 response to calcium ion IDA 12445460
GO:0097502 mannosylation IEA --
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-20
  • Dolichol
  • Dolichol (C100)
  • Dolichol 20
  • Dolichol phosphate
  • Dolichyl phosphate
2067-66-5
Guanosine diphosphate mannose
  • GDP Mannose
  • GDP-D-Mannose
  • GDP-Glucose
  • GDP-Mannose
  • Guanosine Diphosphate Mannose
3123-67-9
genes like me logo Genes that share compounds with ALG2: view

Transcripts for ALG2 Gene

Unigene Clusters for ALG2 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c
SP1: -
SP2:
SP3: - -

Relevant External Links for ALG2 Gene

GeneLoc Exon Structure for
ALG2
ECgene alternative splicing isoforms for
ALG2

Expression for ALG2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, PaxDb, 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:

ALG2

SOURCE GeneReport for Unigene cluster for ALG2 Gene:

Hs.40919
genes like me logo Genes that share expression patterns with ALG2: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia ALG2 34 35
  • 99.36 (n)
dog
(Canis familiaris)
Mammalia ALG2 34 35
  • 89.98 (n)
cow
(Bos Taurus)
Mammalia ALG2 34 35
  • 88.54 (n)
mouse
(Mus musculus)
Mammalia Alg2 34 16 35
  • 82.49 (n)
rat
(Rattus norvegicus)
Mammalia Alg2 34
  • 81.85 (n)
oppossum
(Monodelphis domestica)
Mammalia ALG2 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALG2 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALG2 34 35
  • 70.86 (n)
lizard
(Anolis carolinensis)
Reptilia ALG2 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia alg2 34
  • 66.58 (n)
zebrafish
(Danio rerio)
Actinopterygii alg2 34 35
  • 64.3 (n)
Dr.18620 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001232 34
  • 56.99 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1291 34 35
  • 55.78 (n)
worm
(Caenorhabditis elegans)
Secernentea F09E5.2 34
  • 51.31 (n)
bus-8 35
  • 27 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL098W 34
  • 49.83 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B02420g 34
  • 49.43 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG2 34 35
  • 49.28 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G78800 34
  • 51.91 (n)
rice
(Oryza sativa)
Liliopsida Os04g0589600 34
  • 52.49 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2651 35
  • 52 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU03503 34
  • 50.59 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes alg2 34
  • 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

ENSEMBL:
Gene Tree for ALG2 (if available)
TreeFam:
Gene Tree for ALG2 (if available)

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 Sequence Context AA Info Type
rs730882051 Pathogenic, Myasthenic syndrome, congenital, 14 (CMS14) [MIM:616228] 99,221,692(-) ACCGG(G/T)GCGCT nc-transcript-variant, upstream-variant-2KB, reference, missense
rs387906281 Pathogenic 99,218,145(-) TTCGG(-/G)TGGAC nc-transcript-variant, reference, frameshift-variant
rs730880304 Pathogenic 99,218,792(-) CGGAA(G/T)AAGAT nc-transcript-variant, reference, missense
rs730882123 Pathogenic 99,221,671(-) GTGCC(AGTCCCCG/GGGGACTGGCT)GCCGC nc-transcript-variant, upstream-variant-2KB, cds-indel
rs7023652 Likely benign 99,221,865(+) ACCGA(C/G)TCCCG nc-transcript-variant, upstream-variant-2KB, reference, missense

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)

Relevant External Links for ALG2 Gene

Human Gene Mutation Database (HGMD)
ALG2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALG2

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

Disorders for ALG2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type ii
  • congenital disorder of glycosylation, type iie
myasthenic syndrome, congenital, 14, with tubular aggregates
  • myasthenic syndrome, congenital, 14
congenital myasthenic syndromes with glycosylation defect
congenital disorder of glycosylation, type ih
  • alg8-cdg
fructose intolerance
  • fructose intolerance, hereditary
- elite association - COSMIC cancer census association via MalaCards
Search ALG2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ALG2_HUMAN
  • 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.

Relevant External Links for ALG2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 2013) 2 3 4 64
  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. … Koerner C. (J. Biol. Chem. 2003) 2 3 4 64
  3. The apoptosis linked gene ALG-2 is dysregulated in tumors of various origin and contributes to cancer cell viability. (PMID: 19383317) la Cour J.M. … Berchtold M.W. (Mol Oncol 2008) 3 22 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4 64

Products for ALG2 Gene

Sources for ALG2 Gene

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