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Aliases for MAN1A2 Gene

Aliases for MAN1A2 Gene

  • Mannosidase Alpha Class 1A Member 2 2 3 4 5
  • Processing Alpha-1,2-Mannosidase IB 3 4
  • Alpha-1,2-Mannosidase IB 3 4
  • EC 3.2.1.113 4 56
  • MAN1B 3 4
  • Mannosyl-Oligosaccharide 1,2-Alpha-Mannosidase IB 3
  • Mannosidase, Alpha, Class 1A, Member 2 2
  • Alpha1,2-Mannosidase 3

External Ids for MAN1A2 Gene

Previous GeneCards Identifiers for MAN1A2 Gene

  • GC01P118369
  • GC01P116748
  • GC01P117057
  • GC01P117256
  • GC01P117623
  • GC01P117711
  • GC01P117910
  • GC01P115766

Summaries for MAN1A2 Gene

Entrez Gene Summary for MAN1A2 Gene

  • Alpha-mannosidases function at different stages of N-glycan maturation in mammalian cells. See MAN2A1 (MIM 154582) for general information.[supplied by OMIM, Mar 2008]

GeneCards Summary for MAN1A2 Gene

MAN1A2 (Mannosidase Alpha Class 1A Member 2) is a Protein Coding gene. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include calcium ion binding and mannosyl-oligosaccharide 1,2-alpha-mannosidase activity. An important paralog of this gene is MAN1A1.

UniProtKB/Swiss-Prot for MAN1A2 Gene

  • Involved in the maturation of Asn-linked oligosaccharides. Progressively trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce Man(5)GlcNAc(2).

Tocris Summary for MAN1A2 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 MAN1A2 Gene

Additional gene information for MAN1A2 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAN1A2 Gene

Genomics for MAN1A2 Gene

GeneHancer (GH) Regulatory Elements for MAN1A2 Gene

Promoters and enhancers for MAN1A2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I117363 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 567.9 +0.4 369 8.8 HDGF PKNOX1 CLOCK FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 MAN1A2 GC01M117366 ATP1A1-AS1 ENSG00000271427 LINC01525 GC01P117421
GH01I116877 Enhancer 1.5 FANTOM5 Ensembl ENCODE 41.3 -488.7 -488686 3.1 HDGF PKNOX1 ARNT SIN3A YBX1 FEZF1 ZNF2 ZNF213 ZNF302 ZNF416 MAN1A2 ATP1A1-AS1 PTGFRN CD2 CD101 TRIM45 TTF2 LOC105378927 FTH1P22
GH01I116823 Enhancer 1.5 Ensembl ENCODE dbSUPER 22.8 -541.2 -541195 4.9 HDGF PKNOX1 SMAD1 ARNT FEZF1 ZNF2 IRF4 POLR2B ZNF766 ZNF207 ATP1A1-AS1 MAN1A2 IGSF3 CD2 PTGFRN MIR320B1 FTH1P22 LOC105378927
GH01I116569 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.5 -796.7 -796664 3.1 HDGF PKNOX1 SMAD1 SIN3A DMAP1 YY1 POLR2B ZNF766 E2F8 ZNF207 CD58 MAN1A2 TRIM45 ATP1A1-AS1 ATP1A1 IGSF3 CD101 TTF2 MIR548AC
GH01I116908 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.5 -456.6 -456631 3.6 HDGF ARNT SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF121 ARID2 ATF7 PTGFRN ENSG00000272715 MAN1A2 CD2 PIR48772
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MAN1A2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MAN1A2 gene promoter:

Genomic Locations for MAN1A2 Gene

Genomic Locations for MAN1A2 Gene
chr1:117,367,393-117,528,872
(GRCh38/hg38)
Size:
161,480 bases
Orientation:
Plus strand
chr1:117,910,071-118,071,494
(GRCh37/hg19)

Genomic View for MAN1A2 Gene

Genes around MAN1A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAN1A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAN1A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAN1A2 Gene

Proteins for MAN1A2 Gene

  • Protein details for MAN1A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60476-MA1A2_HUMAN
    Recommended name:
    Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB
    Protein Accession:
    O60476
    Secondary Accessions:
    • Q9H510

    Protein attributes for MAN1A2 Gene

    Size:
    641 amino acids
    Molecular mass:
    73004 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available

neXtProt entry for MAN1A2 Gene

Selected DME Specific Peptides for MAN1A2 Gene

O60476:
  • AYYLSGEEIF
  • SAFITLCFGA
  • GATIVDALDTL
  • GLYPNYLNP
  • FFLPDSSK
  • YEYLLKAWL
  • LGAEIARTCHESY
  • GSSILAEFGTLH
  • DSFYEYL
  • FNTEAHP
  • LLPAFNTP
  • QSFFLAE

Post-translational modifications for MAN1A2 Gene

Other Protein References for MAN1A2 Gene

Domains & Families for MAN1A2 Gene

Gene Families for MAN1A2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MAN1A2 Gene

Graphical View of Domain Structure for InterPro Entry

O60476

UniProtKB/Swiss-Prot:

MA1A2_HUMAN :
  • Belongs to the glycosyl hydrolase 47 family.
Family:
  • Belongs to the glycosyl hydrolase 47 family.
genes like me logo Genes that share domains with MAN1A2: view

Function for MAN1A2 Gene

Molecular function for MAN1A2 Gene

GENATLAS Biochemistry:
alpha-mannosidase,class 1A,member 2,membrane type,expressed in brain placenta and lymphocytes,involved in processing of Asp-linked (N) glycans
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of the terminal (1->2)-linked alpha-D-mannose residues in the oligo-mannose oligosaccharide Man(9)(GlcNAc)(2).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by both 1-deoxymannojirimycin and kifunensine.
UniProtKB/Swiss-Prot Function:
Involved in the maturation of Asn-linked oligosaccharides. Progressively trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce Man(5)GlcNAc(2).

Enzyme Numbers (IUBMB) for MAN1A2 Gene

Phenotypes From GWAS Catalog for MAN1A2 Gene

Gene Ontology (GO) - Molecular Function for MAN1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004571 mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IEA,TAS --
GO:0005509 calcium ion binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MAN1A2: view
genes like me logo Genes that share phenotypes with MAN1A2: view

Animal Models for MAN1A2 Gene

MGI Knock Outs for MAN1A2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MAN1A2 Gene

Localization for MAN1A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAN1A2 Gene

Golgi apparatus membrane; Single-pass type II 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 MAN1A2 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
endoplasmic reticulum 3
mitochondrion 2
cytosol 2
plasma membrane 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAN1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005783 endoplasmic reticulum IBA --
GO:0005794 Golgi apparatus IDA,IEA --
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA,TAS --
genes like me logo Genes that share ontologies with MAN1A2: view

Pathways & Interactions for MAN1A2 Gene

genes like me logo Genes that share pathways with MAN1A2: view

UniProtKB/Swiss-Prot O60476-MA1A2_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for MAN1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0006491 N-glycan processing TAS 9592125
GO:0007585 respiratory gaseous exchange IEA --
GO:0008152 metabolic process IEA --
GO:0009100 glycoprotein metabolic process IEA --
genes like me logo Genes that share ontologies with MAN1A2: view

No data available for SIGNOR curated interactions for MAN1A2 Gene

Drugs & Compounds for MAN1A2 Gene

(8) Drugs for MAN1A2 Gene - From: ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
Water Approved Pharma 0
Acarbose Approved, Investigational Pharma Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) 91
1-Deoxynojirimycin Experimental Pharma Glucosidase I and II inhibitor 26
Kifunensine Experimental Pharma 0

(3) Additional Compounds for MAN1A2 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Miglustat hydrochloride
210110-90-0

(5) Tocris Compounds for MAN1A2 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
Miglustat hydrochloride alpha-glucosidase I and II inhibitor. Also inhibits ceramide-specific glycosyltransferases 210110-90-0

(2) ApexBio Compounds for MAN1A2 Gene

Compound Action Cas Number
1-Deoxymannojirimycin hydrochloride 73465-43-7
Kifunensine 109944-15-2
genes like me logo Genes that share compounds with MAN1A2: view

Drug Products

Transcripts for MAN1A2 Gene

Unigene Clusters for MAN1A2 Gene

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

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAN1A2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b
SP1: -
SP2:
SP3: -
SP4: - -

Relevant External Links for MAN1A2 Gene

GeneLoc Exon Structure for
MAN1A2
ECgene alternative splicing isoforms for
MAN1A2

Expression for MAN1A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MAN1A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MAN1A2 Gene

This gene is overexpressed in Placenta (21.9), Stomach (9.1), and Lymph node (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MAN1A2 Gene



Protein tissue co-expression partners for MAN1A2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MAN1A2 Gene:

MAN1A2

SOURCE GeneReport for Unigene cluster for MAN1A2 Gene:

Hs.435938

mRNA Expression by UniProt/SwissProt for MAN1A2 Gene:

O60476-MA1A2_HUMAN
Tissue specificity: Highest levels of expression in placenta and testis.

Evidence on tissue expression from TISSUES for MAN1A2 Gene

  • Nervous system(4.5)
  • Liver(2.2)
genes like me logo Genes that share expression patterns with MAN1A2: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MAN1A2 Gene

Orthologs for MAN1A2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MAN1A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAN1A2 33 34
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia MAN1A2 33 34
  • 93.4 (n)
cow
(Bos Taurus)
Mammalia MAN1A2 33 34
  • 93.34 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MAN1A2 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Man1a2 33 16 34
  • 89.6 (n)
rat
(Rattus norvegicus)
Mammalia Man1a2 33
  • 89.5 (n)
oppossum
(Monodelphis domestica)
Mammalia MAN1A2 34
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAN1A2 33 34
  • 80.86 (n)
lizard
(Anolis carolinensis)
Reptilia MAN1A2 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia man1a2 33
  • 72.65 (n)
zebrafish
(Danio rerio)
Actinopterygii MAN1A2 34
  • 83 (a)
OneToOne
wu:fj20e02 33
  • 72.65 (n)
Dr.18766 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000558 33
  • 56.46 (n)
fruit fly
(Drosophila melanogaster)
Insecta alpha-Man-I 35 33 34
  • 53.32 (n)
CG31202 34
  • 38 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C52E4.5 35 33
  • 52.21 (n)
mans-1 34
  • 45 (a)
ManyToMany
D2030.1 35
  • 41 (a)
mans-2 34
  • 40 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MNS1 34
  • 33 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU02235 33
  • 48.31 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1038 33
Species where no ortholog for MAN1A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • 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)
  • 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 MAN1A2 Gene

ENSEMBL:
Gene Tree for MAN1A2 (if available)
TreeFam:
Gene Tree for MAN1A2 (if available)

Paralogs for MAN1A2 Gene

Paralogs for MAN1A2 Gene

(6) SIMAP similar genes for MAN1A2 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for MAN1A2 Gene

genes like me logo Genes that share paralogs with MAN1A2: view

Variants for MAN1A2 Gene

Sequence variations from dbSNP and Humsavar for MAN1A2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000001270 -- 117,435,077(+) G/T intron_variant
rs1000009362 -- 117,440,513(+) T/C intron_variant
rs1000061475 -- 117,447,683(+) T/A intron_variant
rs1000090887 -- 117,375,962(+) A/G intron_variant
rs1000129467 -- 117,476,789(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MAN1A2 Gene

Variant ID Type Subtype PubMed ID
nsv951404 CNV deletion 24416366
nsv831170 CNV gain 17160897
nsv819679 CNV loss 19587683
nsv519780 CNV gain 19592680
nsv506956 OTHER sequence alteration 20534489
nsv1009706 CNV gain 25217958
nsv1006415 CNV loss 25217958
nsv1001257 CNV loss 25217958
esv3587318 CNV loss 21293372
esv3587315 CNV loss 21293372
esv2661362 CNV deletion 23128226
esv2224574 CNV deletion 18987734
esv1005427 CNV deletion 20482838
dgv296n100 CNV loss 25217958
dgv295n100 CNV loss 25217958
dgv294n100 CNV loss 25217958

Variation tolerance for MAN1A2 Gene

Residual Variation Intolerance Score: 17.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.61; 31.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAN1A2 Gene

Human Gene Mutation Database (HGMD)
MAN1A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAN1A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAN1A2 Gene

Disorders for MAN1A2 Gene

Additional Disease Information for MAN1A2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for MAN1A2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MAN1A2 Gene

Publications for MAN1A2 Gene

  1. Molecular cloning, chromosomal mapping and tissue-specific expression of a novel human alpha1,2-mannosidase gene involved in N-glycan maturation. (PMID: 9592125) Tremblay LO … Herscovics A (Glycobiology 1998) 2 3 4 22 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. Screening for replication of genome-wide SNP associations in sporadic ALS. (PMID: 18987618) Cronin S … Hardiman O (European journal of human genetics : EJHG 2009) 3 44 58
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 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 MAN1A2 Gene

Sources for MAN1A2 Gene

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