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Aliases for MAN2A1 Gene

Aliases for MAN2A1 Gene

  • Mannosidase Alpha Class 2A Member 1 2 3 4
  • Mannosidase, Alpha, Class 2A, Member 1 2 3 5
  • Mannosyl-Oligosaccharide 1,3-1,6-Alpha-Mannosidase 3 4
  • Golgi Integral Membrane Protein 7 2 3
  • Golgi Alpha-Mannosidase II 3 4
  • EC 3.2.1.114 4 63
  • AMan II 3 4
  • MANA2 3 4
  • Mannosidase, Alpha Type II 3
  • EC 3.2.1 63
  • GOLIM7 3
  • Man II 4
  • MANII 3

External Ids for MAN2A1 Gene

Previous HGNC Symbols for MAN2A1 Gene

  • MANA2

Previous GeneCards Identifiers for MAN2A1 Gene

  • GC05P108644
  • GC05P109467
  • GC05P109056
  • GC05P109101
  • GC05P109053
  • GC05P104197

Summaries for MAN2A1 Gene

Entrez Gene Summary for MAN2A1 Gene

  • This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. [provided by RefSeq, Dec 2013]

GeneCards Summary for MAN2A1 Gene

MAN2A1 (Mannosidase Alpha Class 2A Member 1) is a Protein Coding gene. Diseases associated with MAN2A1 include Congenital Dyserythropoietic Anemia and Congenital Disorder Of Glycosylation, Type Ii. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism. GO annotations related to this gene include carbohydrate binding and alpha-mannosidase activity. An important paralog of this gene is MAN2B1.

UniProtKB/Swiss-Prot for MAN2A1 Gene

  • Catalyzes the first committed step in the biosynthesis of complex N-glycans. It controls conversion of high mannose to complex N-glycans; the final hydrolytic step in the N-glycan maturation pathway.

Tocris Summary for MAN2A1 Gene

  • Glycosylases are a group of enzymes that includes glucosidases, mannosidases and heparanases. There are two glucosidase subtypes, both found in the gut. They hydrolyze terminal (1,4)alpha-glucosidic linkages and (1,6)beta-glucosidic linkages, liberating alpha-glucose and beta-glucose.

Gene Wiki entry for MAN2A1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAN2A1 Gene

Genomics for MAN2A1 Gene

Regulatory Elements for MAN2A1 Gene

Enhancers for MAN2A1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MAN2A1 on UCSC Golden Path with GeneCards custom track

Promoters for MAN2A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MAN2A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MAN2A1 Gene

Chromosome:
5
Start:
109,689,366 bp from pter
End:
109,869,625 bp from pter
Size:
180,260 bases
Orientation:
Plus strand

Genomic View for MAN2A1 Gene

Genes around MAN2A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAN2A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAN2A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAN2A1 Gene

Proteins for MAN2A1 Gene

  • Protein details for MAN2A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16706-MA2A1_HUMAN
    Recommended name:
    Alpha-mannosidase 2
    Protein Accession:
    Q16706
    Secondary Accessions:
    • Q16767

    Protein attributes for MAN2A1 Gene

    Size:
    1144 amino acids
    Molecular mass:
    131141 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer; disulfide-linked.

neXtProt entry for MAN2A1 Gene

Proteomics data for MAN2A1 Gene at MOPED

Post-translational modifications for MAN2A1 Gene

  • Glycosylation at Asn 78, Asn 93, Ser 105, and Asn 1125
  • Modification sites at PhosphoSitePlus

Other Protein References for MAN2A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for MAN2A1 Gene

Gene Families for MAN2A1 Gene

Suggested Antigen Peptide Sequences for MAN2A1 Gene

Graphical View of Domain Structure for InterPro Entry

Q16706

UniProtKB/Swiss-Prot:

MA2A1_HUMAN :
  • Belongs to the glycosyl hydrolase 38 family.
Family:
  • Belongs to the glycosyl hydrolase 38 family.
genes like me logo Genes that share domains with MAN2A1: view

Function for MAN2A1 Gene

Molecular function for MAN2A1 Gene

GENATLAS Biochemistry:
Golgi alpha-mannosidase,class 2A,member 1,membrane type,involved in the processing of newly synthesized N-glycans mainly expressed in erythroid cells, hepatic tissue
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of the terminal (1->3)- and (1->6)-linked alpha-D-mannose residues in the mannosyl-oligosaccharide Man(5)(GlcNAc)(3).
UniProtKB/Swiss-Prot Function:
Catalyzes the first committed step in the biosynthesis of complex N-glycans. It controls conversion of high mannose to complex N-glycans; the final hydrolytic step in the N-glycan maturation pathway.

Enzyme Numbers (IUBMB) for MAN2A1 Gene

Gene Ontology (GO) - Molecular Function for MAN2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004559 alpha-mannosidase activity IEA --
genes like me logo Genes that share ontologies with MAN2A1: view
genes like me logo Genes that share phenotypes with MAN2A1: view

Animal Models for MAN2A1 Gene

MGI Knock Outs for MAN2A1:

Animal Model Products

  • Taconic Biosciences Mouse Models for MAN2A1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MAN2A1 Gene

Localization for MAN2A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAN2A1 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MAN2A1 Gene COMPARTMENTS Subcellular localization image for MAN2A1 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
cytosol 2
plasma membrane 2
endoplasmic reticulum 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for MAN2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005801 cis-Golgi network IEA --
genes like me logo Genes that share ontologies with MAN2A1: view

Pathways & Interactions for MAN2A1 Gene

genes like me logo Genes that share pathways with MAN2A1: view

UniProtKB/Swiss-Prot Q16706-MA2A1_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for MAN2A1 Gene

Gene Ontology (GO) - Biological Process for MAN2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0001889 liver development IEA --
GO:0005975 carbohydrate metabolic process IEA --
GO:0006517 protein deglycosylation IBA --
GO:0007005 mitochondrion organization IEA --
genes like me logo Genes that share ontologies with MAN2A1: view

No data available for SIGNOR curated interactions for MAN2A1 Gene

Drugs & Compounds for MAN2A1 Gene

(12) Drugs for MAN2A1 Gene - From: DrugBank, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acarbose Approved, Investigational Pharma Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) 81
swainsonine Experimental Pharma Target 0
(1R,2R,3R,4S,5R)-4-(BENZYLAMINO)-5-(METHYLTHIO)CYCLOPENTANE-1,2,3-TRIOL Experimental Pharma Target 0
(1S,2S,3R,6R)-4-(hydroxymethyl)-6-(octylamino)cyclohex-4-ene-1,2,3-triol Experimental Pharma Target 0
1,5-Dideoxy-1,5-Imino-D-Mannitol Experimental Pharma Target 0

(8) Additional Compounds for MAN2A1 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Mannose
  • (+)-mannose
  • (+-)-mannose
  • Carubinose
  • D(+)-Mannose
  • D-Mannopyranose
3458-28-4
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
1-Deoxymannojirimycin hydrochloride
73465-43-7
castanospermine
79831-76-8
OGT 2115
853929-59-6

(5) Tocris Compounds for MAN2A1 Gene

Compound Action Cas Number
1-Deoxymannojirimycin hydrochloride alpha-Mannosidase I inhibitor 73465-43-7
1-Deoxynojirimycin Glucosidase I and II inhibitor 19130-96-2
Acarbose Glucosidase alpha inhibitor (intestinal) 56180-94-0
Castanospermine Glucosidases alpha and beta inhibitor 79831-76-8
OGT 2115 Antiangiogenic. Heparanase inhibitor 853929-59-6
genes like me logo Genes that share compounds with MAN2A1: view

Transcripts for MAN2A1 Gene

Unigene Clusters for MAN2A1 Gene

Mannosidase, alpha, class 2A, member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MAN2A1 Gene

No ASD Table

Relevant External Links for MAN2A1 Gene

GeneLoc Exon Structure for
MAN2A1
ECgene alternative splicing isoforms for
MAN2A1

Expression for MAN2A1 Gene

mRNA expression in normal human tissues for MAN2A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MAN2A1 Gene

This gene is overexpressed in Serum (17.2), Lung (8.5), and Islet of Langerhans (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MAN2A1 Gene



SOURCE GeneReport for Unigene cluster for MAN2A1 Gene Hs.432822

genes like me logo Genes that share expression patterns with MAN2A1: view

Protein tissue co-expression partners for MAN2A1 Gene

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MAN2A1 Gene

Orthologs for MAN2A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MAN2A1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MAN2A1 35
  • 85.9 (n)
  • 82.95 (a)
MAN2A1 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAN2A1 35
  • 87.9 (n)
  • 84.17 (a)
MAN2A1 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Man2a1 35
  • 81.39 (n)
  • 81.01 (a)
Man2a1 16
Man2a1 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MAN2A1 35
  • 99.68 (n)
  • 99.83 (a)
MAN2A1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Man2a1 35
  • 80.61 (n)
  • 79.44 (a)
oppossum
(Monodelphis domestica)
Mammalia MAN2A1 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAN2A1 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAN2A1 35
  • 73.69 (n)
  • 72.64 (a)
MAN2A1 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAN2A1 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia man2a1 35
  • 69.5 (n)
  • 69.09 (a)
Str.12619 35
zebrafish
(Danio rerio)
Actinopterygii man2a1 36
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta alpha-Man-II 37
  • 39 (a)
alpha-Man-IIb 37
  • 32 (a)
alpha-Man-II 36
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F58H1.1 37
  • 36 (a)
aman-2 36
  • 37 (a)
ManyToMany
aman-3 36
  • 29 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2151 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToMany
Species with no ortholog for MAN2A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MAN2A1 Gene

ENSEMBL:
Gene Tree for MAN2A1 (if available)
TreeFam:
Gene Tree for MAN2A1 (if available)

Paralogs for MAN2A1 Gene

Paralogs for MAN2A1 Gene

(2) SIMAP similar genes for MAN2A1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with MAN2A1: view

Variants for MAN2A1 Gene

Sequence variations from dbSNP and Humsavar for MAN2A1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_074182 -
rs719088 -- 109,751,972(+) CCTTT(C/T)GGATG intron-variant
rs723350 -- 109,856,782(-) CACAC(A/G)CACAC intron-variant
rs724214 -- 109,752,655(-) TAGCT(C/G)AGCTC intron-variant
rs724215 -- 109,752,788(-) AAGGT(G/T)AAAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MAN2A1 Gene

Variant ID Type Subtype PubMed ID
nsv462380 CNV Loss 19166990
esv267470 CNV Insertion 20981092
nsv327532 CNV Insertion 16902084
esv6990 CNV Gain 19470904
esv6208 CNV Gain 19470904
esv2540552 CNV Insertion 19546169
esv267440 CNV Insertion 20981092
esv273187 CNV Insertion 20981092
esv2656631 CNV Deletion 23128226

Variation tolerance for MAN2A1 Gene

Residual Variation Intolerance Score: 6.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.62; 91.33% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for MAN2A1 Gene

Disorders for MAN2A1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MAN2A1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
congenital dyserythropoietic anemia
  • congenital dyshaematopoietic anaemia
congenital disorder of glycosylation, type ii
  • congenital disorder of glycosylation, type iie
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MAN2A1

Genetic Association Database (GAD)
MAN2A1
Human Genome Epidemiology (HuGE) Navigator
MAN2A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAN2A1
genes like me logo Genes that share disorders with MAN2A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MAN2A1 Gene

Publications for MAN2A1 Gene

  1. Molecular cloning and expression of cDNAs encoding human alpha- mannosidase II and a previously unrecognized alpha-mannosidase IIx isozyme. (PMID: 8524845) Misago M. … Fukuda M.N. (Proc. Natl. Acad. Sci. U.S.A. 1995) 3 4 23 67
  2. Isolation, characterization, and expression of cDNAs encoding murine alpha-mannosidase II, a Golgi enzyme that controls conversion of high mannose to complex N-glycans. (PMID: 1757461) Moremen K.W. … Robbins P.W. (J. Cell Biol. 1991) 2 3 23
  3. Disruption of alpha-mannosidase processing induces non-canonical hybrid-type glycosylation. (PMID: 17466984) Crispin M. … Harvey D.J. (FEBS Lett. 2007) 3 23
  4. Modulation of therapeutic antibody effector functions by glycosylation engineering: influence of Golgi enzyme localization domain and co-expression of heterologous beta1, 4-N-acetylglucosaminyltransferase III and Golgi alpha-mannosidase II. (PMID: 16435400) Ferrara C. … UmaA+a P. (Biotechnol. Bioeng. 2006) 3 23
  5. The COG and COPI complexes interact to control the abundance of GEARs, a subset of Golgi integral membrane proteins. (PMID: 15004235) Oka T. … Krieger M. (Mol. Biol. Cell 2004) 2 3

Products for MAN2A1 Gene

Sources for MAN2A1 Gene

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