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Aliases for MAN2A1 Gene

Aliases for MAN2A1 Gene

  • Mannosidase Alpha Class 2A Member 1 2 3 4 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 56
  • AMan II 3 4
  • MANA2 3 4
  • Mannosidase, Alpha, Class 2A, Member 1 2
  • Mannosidase, Alpha Type II 3
  • Alpha-Mannosidase 2 3
  • EC 3.2.1 56
  • 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 Autoimmune Disease. 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 carbohydrate binding and alpha-mannosidase activity. An important paralog of this gene is MAN2A2.

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

Additional gene information for MAN2A1 Gene

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

Genomics for MAN2A1 Gene

GeneHancer (GH) Regulatory Elements for MAN2A1 Gene

Promoters and enhancers for MAN2A1 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
GH05I109688 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 550.8 +3.5 3472 9 PKNOX1 CLOCK FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 MAN2A1 RN7SKP230 ENSG00000271849 LOC285638 GC05M109700
GH05I109655 Enhancer 1.3 FANTOM5 Ensembl ENCODE 16.9 -32.6 -32553 2.1 HDAC1 PKNOX1 ATF1 ZBTB40 ZNF766 ETV6 ATF7 RUNX3 CREM ELF1 MAN2A1 ENSG00000271849 LOC105379118 PIR59063
GH05I109742 Enhancer 1.1 Ensembl ENCODE 11.1 +54.2 54247 3.2 HDAC1 PKNOX1 FOXA2 TAF9B ARNT CHAMP1 ZNF335 TCF12 FOS CREM RN7SKP230 MAN2A1 ENSG00000271849 GC05P109723 GC05M109796
GH05I109406 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 3.6 -279.7 -279679 5.6 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC ZNF610 GLIS1 NBN NR2C1 PJA2 LOC285638 LINC01023 MAN2A1 GC05P109401
GH05I109612 Enhancer 0.6 FANTOM5 dbSUPER 12.5 -76.7 -76734 0.4 NFIC NFIB PIR59063 MAN2A1 LOC285638 LOC105379118
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MAN2A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MAN2A1 gene promoter:

Genomic Locations for MAN2A1 Gene

Genomic Locations for MAN2A1 Gene
chr5:109,689,366-109,869,625
(GRCh38/hg38)
Size:
180,260 bases
Orientation:
Plus strand
chr5:109,025,067-109,205,326
(GRCh37/hg19)

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

Selected DME Specific Peptides for MAN2A1 Gene

Q16706:
  • IDPFGHS
  • CCQFDFKR
  • LSGDFFTYADR
  • HYFALIDQLIEGHQWLE
  • WAIDPFGHSPTM
  • VFVVPHSHNDPGW
  • SGAYLFLP
  • TSRPFYK
  • DGGVWKQG
  • KLPLQAN
  • LLDQYRKKS

Post-translational modifications for MAN2A1 Gene

  • Glycosylation at posLast=7878, posLast=9393, isoforms=105, and isoforms=1125

Other Protein References for MAN2A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MAN2A1 Gene

Gene Families for MAN2A1 Gene

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

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

Phenotypes From GWAS Catalog 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 IBA --
GO:0004572 mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity TAS --
GO:0015923 mannosidase activity IEA --
GO:0016787 hydrolase 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

Clone Products

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
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 MAN2A1 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
plasma membrane 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MAN2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005615 extracellular space IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005797 Golgi medial cisterna IDA 21525244
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.

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:0006013 mannose metabolic process IBA --
GO:0006486 protein glycosylation 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

(14) Drugs for MAN2A1 Gene - From: DrugBank, ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Acarbose Approved, Investigational Pharma Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) 91
(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-deoxymannojirimycin Experimental Pharma Target 0

(4) Additional Compounds for MAN2A1 Gene - From: Novoseek and Tocris

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

(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
Miglustat hydrochloride alpha-glucosidase I and II inhibitor. Also inhibits ceramide-specific glycosyltransferases 210110-90-0

(1) ApexBio Compounds for MAN2A1 Gene

Compound Action Cas Number
Swainsonine 72741-87-8
genes like me logo Genes that share compounds with MAN2A1: view

Drug Products

Transcripts for MAN2A1 Gene

Unigene Clusters for MAN2A1 Gene

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

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for MAN2A1 Gene



Protein tissue co-expression partners for MAN2A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MAN2A1 Gene:

MAN2A1

SOURCE GeneReport for Unigene cluster for MAN2A1 Gene:

Hs.432822

Evidence on tissue expression from TISSUES for MAN2A1 Gene

  • Liver(4.4)
  • Bone marrow(4.2)
  • Nervous system(3.3)
genes like me logo Genes that share expression patterns with MAN2A1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia MAN2A1 33 34
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia MAN2A1 33 34
  • 87.9 (n)
cow
(Bos Taurus)
Mammalia MAN2A1 33 34
  • 85.9 (n)
mouse
(Mus musculus)
Mammalia Man2a1 33 16 34
  • 81.39 (n)
rat
(Rattus norvegicus)
Mammalia Man2a1 33
  • 80.61 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MAN2A1 34
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAN2A1 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAN2A1 33 34
  • 73.69 (n)
lizard
(Anolis carolinensis)
Reptilia MAN2A1 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia man2a1 33
  • 69.5 (n)
Str.12619 33
zebrafish
(Danio rerio)
Actinopterygii man2a1 34
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta alpha-Man-II 35 34
  • 39 (a)
alpha-Man-IIb 35
  • 32 (a)
worm
(Caenorhabditis elegans)
Secernentea aman-2 34
  • 37 (a)
ManyToMany
F58H1.1 35
  • 36 (a)
aman-3 34
  • 29 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2151 33
Species where no ortholog for MAN2A1 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000001277 -- 109,788,057(+) A/G/T intron_variant
rs1000016306 -- 109,834,605(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000030571 -- 109,751,108(+) A/G intron_variant
rs1000035062 -- 109,715,438(+) T/C intron_variant
rs1000087913 -- 109,833,477(+) G/A genic_downstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
esv2540552 CNV insertion 19546169
esv2656631 CNV deletion 23128226
esv3303190 CNV mobile element insertion 20981092
esv3351754 CNV insertion 20981092
esv3403612 CNV insertion 20981092
esv3427751 CNV insertion 20981092
esv3606225 CNV loss 21293372
esv3606227 CNV loss 21293372
esv6208 CNV gain 19470904
esv6990 CNV gain 19470904
nsv1025801 CNV gain 25217958
nsv1144116 CNV deletion 24896259
nsv327532 CNV insertion 16902084
nsv462380 CNV loss 19166990
nsv599339 CNV loss 21841781

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)

Additional Variant Information for MAN2A1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAN2A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAN2A1 Gene

Disorders for MAN2A1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
congenital dyserythropoietic anemia
  • cda
autoimmune disease
  • hypersensitivity reaction type ii disease
congenital disorder of glycosylation, type ii
  • cdg1i
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MAN2A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 MN (Proceedings of the National Academy of Sciences of the United States of America 1995) 3 4 22 58
  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 KW … Robbins PW (The Journal of cell biology 1991) 2 3 22 58
  3. 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
  4. Genome-wide association study of childhood acute lymphoblastic leukemia in Korea. (PMID: 20189245) Han S … Kang D (Leukemia research 2010) 3 44 58
  5. Variants in KCNQ1, AP3S1, MAN2A1, and ALDH7A1 and the risk of type 2 diabetes in the Chinese Northern Han population: a case-control study and meta-analysis. (PMID: 20512086) Zhou JB … Xin Z (Medical science monitor : international medical journal of experimental and clinical research 2010) 3 44 58

Products for MAN2A1 Gene

Sources for MAN2A1 Gene

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