Aliases for MAN2C1 Gene

Aliases for MAN2C1 Gene

  • Mannosidase Alpha Class 2C Member 1 2 3 4 5
  • Alpha-D-Mannoside Mannohydrolase 3 4
  • Alpha Mannosidase 6A8B 3 4
  • Alpha-Mannosidase 2C1 3 4
  • EC 3.2.1.24 4 50
  • MANA1 3 4
  • MANA 3 4
  • Mannosidase, Alpha, Class 2C, Member 1 2
  • Mannosidase, Alpha A, Cytoplasmic 3
  • Testicular Tissue Protein Li 115 3
  • Mannosidase, Alpha 6A8 3
  • MAN6A8 3
  • MAN2C1 5

External Ids for MAN2C1 Gene

Previous HGNC Symbols for MAN2C1 Gene

  • MANA1
  • MANA

Previous GeneCards Identifiers for MAN2C1 Gene

  • GC15M071525
  • GC15M068739
  • GC15M073224
  • GC15M073363
  • GC15M073435
  • GC15M075648
  • GC15M052406

Summaries for MAN2C1 Gene

GeneCards Summary for MAN2C1 Gene

MAN2C1 (Mannosidase Alpha Class 2C Member 1) is a Protein Coding gene. Diseases associated with MAN2C1 include Cholestasis, Intrahepatic, Of Pregnancy 3 and Mannosidosis, Alpha B, Lysosomal. Among its related pathways are Glycosaminoglycan metabolism and Metabolism. 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 Summary for MAN2C1 Gene

  • Cleaves alpha 1,2-, alpha 1,3-, and alpha 1,6-linked mannose residues from glycoproteins. Involved in the degradation of free oligosaccharides in the cytoplasm.

Tocris Summary for MAN2C1 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.

No data available for Entrez Gene Summary , CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MAN2C1 Gene

Genomics for MAN2C1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MAN2C1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAN2C1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MAN2C1

Top Transcription factor binding sites by QIAGEN in the MAN2C1 gene promoter:
  • ARP-1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • GATA-3
  • HSF2
  • STAT3

Genomic Locations for MAN2C1 Gene

Latest Assembly
chr15:75,355,207-75,368,612
(GRCh38/hg38)
Size:
13,406 bases
Orientation:
Minus strand

Previous Assembly
chr15:75,648,133-75,660,948
(GRCh37/hg19 by Entrez Gene)
Size:
12,816 bases
Orientation:
Minus strand

chr15:75,648,133-75,660,971
(GRCh37/hg19 by Ensembl)
Size:
12,839 bases
Orientation:
Minus strand

Genomic View for MAN2C1 Gene

Genes around MAN2C1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAN2C1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAN2C1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAN2C1 Gene

Proteins for MAN2C1 Gene

  • Protein details for MAN2C1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NTJ4-MA2C1_HUMAN
    Recommended name:
    Alpha-mannosidase 2C1
    Protein Accession:
    Q9NTJ4
    Secondary Accessions:
    • H3BMX2
    • H3BQY8
    • H3BUT6
    • Q13358
    • Q68EM8
    • Q9UL64

    Protein attributes for MAN2C1 Gene

    Size:
    1040 amino acids
    Molecular mass:
    115835 Da
    Cofactor:
    Name=Co(2+); Xref=ChEBI:CHEBI:48828;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC00190.2; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAC00568.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for MAN2C1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAN2C1 Gene

Selected DME Specific Peptides for MAN2C1 Gene

Q9NTJ4:
  • RPTHYNTSWD
  • KFLKVEFP
  • LPDTFGYSAQLPQ
  • CHIDTAWLWPF
  • GGTWVEMDGNLPSGE

Post-translational modifications for MAN2C1 Gene

  • Ubiquitination at Lys750
  • Modification sites at PhosphoSitePlus

Domains & Families for MAN2C1 Gene

Gene Families for MAN2C1 Gene

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

Suggested Antigen Peptide Sequences for MAN2C1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57925, highly similar to Alpha-mannosidase 2C1 (EC 3.2.1.24) (B4DH23_HUMAN)
  • Mannosidase alpha class 2C member 1 (MA2C1_HUMAN)
  • MAN2C1 protein (Q68EM8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NTJ4

UniProtKB/Swiss-Prot:

MA2C1_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 MAN2C1: view

Function for MAN2C1 Gene

Molecular function for MAN2C1 Gene

UniProtKB/Swiss-Prot Function:
Cleaves alpha 1,2-, alpha 1,3-, and alpha 1,6-linked mannose residues from glycoproteins. Involved in the degradation of free oligosaccharides in the cytoplasm.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides.; EC=3.2.1.24; Evidence={ECO:0000269|PubMed:16848760};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Strongly inhibited by swainsonine. Also inhibited to a lesser extent by deoxymannojirimycin (DMM).
GENATLAS Biochemistry:
alpha-mannosidase,class 2C,member 1,membrane type,cytoplasmic

Enzyme Numbers (IUBMB) for MAN2C1 Gene

Phenotypes From GWAS Catalog for MAN2C1 Gene

Gene Ontology (GO) - Molecular Function for MAN2C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004559 alpha-mannosidase activity IEA,IBA 21873635
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with MAN2C1: view
genes like me logo Genes that share phenotypes with MAN2C1: view

Animal Models for MAN2C1 Gene

MGI Knock Outs for MAN2C1:

miRNA for MAN2C1 Gene

miRTarBase miRNAs that target MAN2C1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAN2C1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MAN2C1 Gene

Localization for MAN2C1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAN2C1 Gene

Cytoplasm.

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 MAN2C1 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MAN2C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MAN2C1: view

Pathways & Interactions for MAN2C1 Gene

genes like me logo Genes that share pathways with MAN2C1: view

Pathways by source for MAN2C1 Gene

1 KEGG pathway for MAN2C1 Gene

Gene Ontology (GO) - Biological Process for MAN2C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006013 mannose metabolic process IEA --
GO:0008152 metabolic process IEA --
GO:0009313 oligosaccharide catabolic process IBA,TAS --
genes like me logo Genes that share ontologies with MAN2C1: view

No data available for SIGNOR curated interactions for MAN2C1 Gene

Drugs & Compounds for MAN2C1 Gene

(8) Drugs for MAN2C1 Gene - From: DrugBank and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acarbose Approved, Investigational Pharma Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) 102
1,3-Dinitrobenzene Experimental Pharma Target 0
2-(N-morpholino)ethanesulfonic acid Experimental Pharma Target 0
2-deoxy-2-fluoro-α-D-mannose Experimental Pharma Target 0
2-deoxy-2-fluoro-β-D-mannose Experimental Pharma Target 0

(1) Additional Compounds for MAN2C1 Gene - From: Tocris

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

(5) Tocris Compounds for MAN2C1 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
genes like me logo Genes that share compounds with MAN2C1: view

Transcripts for MAN2C1 Gene

mRNA/cDNA for MAN2C1 Gene

4 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
45 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAN2C1

Alternative Splicing Database (ASD) splice patterns (SP) for MAN2C1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - -
SP4: - - -
SP5: - -
SP6: - -
SP7:
SP8:
SP9: - - - -
SP10: - - - - -
SP11: - -
SP12: - -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22: -
SP23: - -
SP24:
SP25:
SP26:
SP27:

ExUns: 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c ^ 18a · 18b ^ 19 ^ 20 ^ 21a · 21b · 21c ^ 22 ^ 23a · 23b ^ 24a · 24b · 24c ^ 25a ·
SP1: - - - - - - -
SP2: - - - - - - -
SP3:
SP4:
SP5:
SP6:
SP7: - - -
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13: - -
SP14: -
SP15:
SP16: -
SP17: -
SP18:
SP19:
SP20:
SP21: -
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:

ExUns: 25b · 25c · 25d ^ 26 ^ 27a · 27b ^ 28a · 28b · 28c ^ 29
SP1: - -
SP2: - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: - -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16: -
SP17: -
SP18: -
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:

Relevant External Links for MAN2C1 Gene

GeneLoc Exon Structure for
MAN2C1

Expression for MAN2C1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MAN2C1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MAN2C1 Gene

This gene is overexpressed in Stomach (14.9) and Bone marrow mesenchymal stem cell (13.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MAN2C1 Gene



Protein tissue co-expression partners for MAN2C1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MAN2C1

SOURCE GeneReport for Unigene cluster for MAN2C1 Gene:

Hs.26232

Evidence on tissue expression from TISSUES for MAN2C1 Gene

  • Nervous system(4.9)
  • Skin(4.5)
  • Spleen(2.4)
  • Intestine(2.3)
  • Adrenal gland(2.2)
  • Stomach(2.2)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with MAN2C1: view

Primer products for research

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 MAN2C1 Gene

Orthologs for MAN2C1 Gene

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

Orthologs for MAN2C1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MAN2C1 29 30
  • 98.66 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MAN2C1 30
  • 90 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia MAN2C1 29 30
  • 88.59 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Man2c1 29 16 30
  • 87.22 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Man2c1 29
  • 85.79 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 71 (a)
OneToMany
-- 30
  • 71 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia MAN2C1 30
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MAN2C1 30
  • 71 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MAN2C1 30
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia man2c1 29
  • 63.34 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC569595 29
  • 62.62 (n)
man2c1 30
  • 62 (a)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGR385C 29
  • 47.99 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AMS1 29 30 32
  • 44.96 (n)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU07404 29
  • 50.85 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 50 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ams1 29
  • 46.79 (n)
Species where no ortholog for MAN2C1 was found in the sources mined by GeneCards:
  • 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)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for MAN2C1 Gene

ENSEMBL:
Gene Tree for MAN2C1 (if available)
TreeFam:
Gene Tree for MAN2C1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MAN2C1: view image
Alliance of Genome Resources:
Additional Orthologs for MAN2C1

Paralogs for MAN2C1 Gene

(5) SIMAP similar genes for MAN2C1 Gene using alignment to 9 proteins:

  • MA2C1_HUMAN
  • B4DH23_HUMAN
  • H3BMJ3_HUMAN
  • H3BQH9_HUMAN
  • H3BQJ2_HUMAN
  • H3BRI3_HUMAN
  • H3BRV3_HUMAN
  • H3BSE5_HUMAN
  • H3BUW3_HUMAN
genes like me logo Genes that share paralogs with MAN2C1: view

Variants for MAN2C1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MAN2C1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs200595616 -- p.Arg323Cys
rs3803466 -- p.Val960Ile
rs3803467 -- p.Val950Met
rs5745934 -- p.Arg975Lys
rs58557444 -- p.Arg818His

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MAN2C1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MAN2C1 Gene

Variant ID Type Subtype PubMed ID
dgv2621n100 CNV gain 25217958
esv2749894 CNV deletion 23290073
esv3636925 CNV loss 21293372
esv3636926 CNV gain 21293372
nsv1116463 OTHER inversion 24896259
nsv1615 CNV insertion 18451855
nsv951996 CNV deletion 24416366

Variation tolerance for MAN2C1 Gene

Residual Variation Intolerance Score: 52.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.86; 67.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MAN2C1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAN2C1
Leiden Open Variation Database (LOVD)
MAN2C1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAN2C1 Gene

Disorders for MAN2C1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MAN2C1 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MAN2C1

genes like me logo Genes that share disorders with MAN2C1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MAN2C1 Gene

Publications for MAN2C1 Gene

  1. Inhibition of alpha-mannosidase Man2c1 gene expression suppresses growth of esophageal carcinoma cells through mitotic arrest and apoptosis. (PMID: 19018777) Tian Y … Zhu LP (Cancer science 2008) 3 22
  2. Inhibition of the alpha-mannosidase Man2c1 gene expression enhances adhesion of Jurkat cells. (PMID: 16721356) Qu L … Zhu LP (Cell research 2006) 3 22
  3. Man2C1, an alpha-mannosidase, is involved in the trimming of free oligosaccharides in the cytosol. (PMID: 16848760) Suzuki T … Taniguchi N (The Biochemical journal 2006) 4 22
  4. 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
  5. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4

Products for MAN2C1 Gene

Sources for MAN2C1 Gene