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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-Mannosyltransferase ALG2 3
  • Homolog Of Yeast ALG2 3
  • EC 2.4.1.132 4
  • EC 2.4.1.257 4
  • EC 2.4.1 63
  • CMSTA3 3
  • HALPG2 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 myasthenic syndrome, congenital, 14, with tubular aggregates and congenital disorder of glycosylation, type ii. Among its related pathways are Metabolism and Transport to the Golgi and subsequent modification. 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

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

Proteomics data for ALG2 Gene at MOPED

Selected DME Specific Peptides for ALG2 Gene

Post-translational modifications for ALG2 Gene

  • Ubiquitination at Lys 48
  • Modification sites at PhosphoSitePlus

Other Protein References for ALG2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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:0047485 protein N-terminus binding IPI 12445460
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

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
Jensen Localization Image for ALG2 Gene COMPARTMENTS Subcellular localization image for ALG2 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 5
cytoskeleton 2
golgi apparatus 2
cytosol 1
extracellular 1
lysosome 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ALG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 16996505
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:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
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-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:

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 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, MOPED, and MaxQB for ALG2 Gene



SOURCE GeneReport for Unigene cluster for ALG2 Gene Hs.40919

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

Protein tissue co-expression partners for ALG2 Gene

- Elite partner

Primer Products

In Situ Assay 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 36
  • 100 (a)
OneToOne
ALG2 35
  • 99.36 (n)
  • 99.76 (a)
cow
(Bos Taurus)
Mammalia ALG2 36
  • 89 (a)
OneToOne
ALG2 35
  • 88.54 (n)
  • 89.18 (a)
dog
(Canis familiaris)
Mammalia ALG2 35
  • 89.98 (n)
  • 90.38 (a)
ALG2 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Alg2 16
Alg2 35
  • 82.49 (n)
  • 80.72 (a)
Alg2 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALG2 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALG2 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Alg2 35
  • 81.85 (n)
  • 81.45 (a)
chicken
(Gallus gallus)
Aves ALG2 35
  • 70.86 (n)
  • 72.19 (a)
ALG2 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALG2 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia alg2 35
  • 66.58 (n)
  • 68.42 (a)
zebrafish
(Danio rerio)
Actinopterygii alg2 35
  • 64.3 (n)
  • 68.35 (a)
Dr.18620 35
alg2 36
  • 59 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001232 35
  • 56.99 (n)
  • 55.81 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG1291 35
  • 55.78 (n)
  • 53.42 (a)
CG1291 36
  • 50 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea bus-8 36
  • 27 (a)
OneToOne
F09E5.2 35
  • 51.31 (n)
  • 48.09 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL098W 35
  • 49.83 (n)
  • 42.78 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALG2 35
  • 49.28 (n)
  • 43.73 (a)
ALG2 36
  • 34 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B02420g 35
  • 49.43 (n)
  • 45.69 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G78800 35
  • 51.91 (n)
  • 50.38 (a)
rice
(Oryza sativa)
Liliopsida Os04g0589600 35
  • 52.49 (n)
  • 50.13 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03503 35
  • 50.59 (n)
  • 44.22 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes alg2 35
  • 48.16 (n)
  • 41.96 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2651 36
  • 52 (a)
OneToOne
Species with no ortholog for ALG2:
  • 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
VAR_049351 -
rs35626507 - 99,218,085(+) AGTGC(A/G)CCGGG nc-transcript-variant, reference, missense
VAR_073332 Myasthenic syndrome, congenital, 14 (CMS14)
rs35149914 -- 99,219,035(+) GTGCT(-/A)AAACA intron-variant
rs34736268 -- 99,215,932(+) TACCA(-/G)GAATT downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
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

HapMap Linkage Disequilibrium report
ALG2
Human Gene Mutation Database (HGMD)
ALG2

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

Disorders for ALG2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
myasthenic syndrome, congenital, 14, with tubular aggregates
  • myasthenic syndrome, congenital, 14
congenital disorder of glycosylation, type ii
  • congenital disorder of glycosylation, type iie
congenital myasthenic syndromes with glycosylation defect
muscular dystrophy-dystroglycanopathy , type a, 9
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a9
congenital disorder of glycosylation, type ih
  • congenital disorder of glycosylation 1h
- 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 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. 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 67
  2. 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 23
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Structural analysis of the complex between penta-EF-hand ALG-2 protein and Sec31A peptide reveals a novel target recognition mechanism of ALG-2. (PMID: 25667979) Takahashi T. … Maki M. (Int J Mol Sci 2015) 3
  5. Apoptosis-linked gene-2 (ALG-2)/Sec31 interactions regulate endoplasmic reticulum (ER)-to-Golgi transport: a potential effector pathway for luminal calcium. (PMID: 25006245) Helm J.R. … Hay J.C. (J. Biol. Chem. 2014) 3

Products for ALG2 Gene

Sources for ALG2 Gene

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