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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
  • EC 3.2.1.24 4 58
  • 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
  • Alpha-Mannosidase 2C1 3
  • MAN6A8 3

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 Pneumatosis Cystoides Intestinalis. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include carbohydrate binding and alpha-mannosidase activity.

UniProtKB/Swiss-Prot 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.

Additional gene information for MAN2C1 Gene

No data available for Entrez Gene Summary , CIViC summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAN2C1 Gene

Genomics for MAN2C1 Gene

Regulatory Elements for MAN2C1 Gene

Enhancers for MAN2C1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H075449 1.8 FANTOM5 ENCODE dbSUPER 97.2 -84.2 -84243 8 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC MAN2C1 ENSG00000260274 SIN3A SNUPN DNM1P34 EDC3 FBXO22 LOC105370902 COMMD4 GOLGA6D
GH15H075624 1.4 Ensembl ENCODE 70.6 -257.1 -257116 3 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 SIN3A MAN2C1 EDC3 ENSG00000260274 SNUPN DNM1P35 FBXO22 COMMD4 PTPN9 TYRO3P
GH15H075335 1.1 ENCODE 88.9 +32.9 32894 2 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 MAN2C1 DNM1P35 SNUPN ENSG00000260274 FBXO22 GOLGA6D LOC105370902 DNM1P49 SIN3A ENSG00000203392
GH15H074539 1.8 FANTOM5 Ensembl ENCODE 49.7 +827.2 827154 4 HDGF PKNOX1 ARID4B SIN3A FEZF1 ZNF2 ZBTB7B YY1 ZNF143 ZNF207 SIN3A MAN2C1 EDC3 ENSG00000260274 ISLR UBL7-AS1 COMMD4 UBL7 DNM1P34 LOC732265
GH15H074412 2 FANTOM5 Ensembl ENCODE dbSUPER 44.1 +944.9 944931 22 HDGF PKNOX1 FOXA2 ARID4B SIN3A ZNF2 ZNF143 ZNF207 FOS SP3 ENSG00000260274 MAN2C1 EDC3 CLK3 LOC101929333 PML COMMD4 ENSG00000212279 UBL7-AS1 ISLR
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MAN2C1 on UCSC Golden Path with GeneCards custom track

Promoters for MAN2C1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000079396 514 1601 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A

Genomic Location for MAN2C1 Gene

Chromosome:
15
Start:
75,355,207 bp from pter
End:
75,369,114 bp from pter
Size:
13,908 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; Positions=1013; Evidence={ECO:0000305}; Sequence=AAC00568.1; Type=Frameshift; Positions=1013; 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

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

GENATLAS Biochemistry:
alpha-mannosidase,class 2C,member 1,membrane type,cytoplasmic
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides.
UniProtKB/Swiss-Prot EnzymeRegulation:
Strongly inhibited by swainsonine. Also inhibited to a lesser extent by deoxymannojirimycin (DMM).
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.

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:0004559 alpha-mannosidase activity IEA,TAS --
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
GO:0030246 carbohydrate binding IEA --
GO:0046872 metal ion 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:

Animal Model Products

CRISPR Products

miRNA for MAN2C1 Gene

miRTarBase miRNAs that target MAN2C1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MAN2C1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 5
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 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:0005773 vacuole IBA --
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,IBA --
GO:0006517 protein deglycosylation IBA --
GO:0008152 metabolic process IEA --
GO:0009313 oligosaccharide catabolic process 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

(4) Drugs for MAN2C1 Gene - From: Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acarbose Approved, Investigational Pharma Alpha-glucosidase inhibitor, Glucosidase alpha inhibitor (intestinal) 86
1-Deoxynojirimycin Experimental Pharma Glucosidase I and II inhibitor 26
Kifunensine Experimental Pharma Inhibitor of class I alpha-mannosidases 0
Swainsonine Pharma Inhibitor of alpha-mannosidase II 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-Deoxynojirimycin Glucosidase I and II inhibitor 19130-96-2
Acarbose Glucosidase alpha inhibitor (intestinal) 56180-94-0
Kifunensine Inhibitor of class I alpha-mannosidases 109944-15-2
Miglustat hydrochloride alpha-glucosidase I and II inhibitor. Also inhibits ceramide-specific glycosyltransferases 210110-90-0
Swainsonine Inhibitor of alpha-mannosidase II 72741-87-8
genes like me logo Genes that share compounds with MAN2C1: view

Transcripts for MAN2C1 Gene

Unigene Clusters for MAN2C1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MAN2C1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
MAN2C1

Expression for MAN2C1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for MAN2C1 Gene



Protein tissue co-expression partners for MAN2C1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MAN2C1 Gene:

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(4.4)
genes like me logo Genes that share expression patterns with MAN2C1: view

Primer Products

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 33 34
  • 98.66 (n)
cow
(Bos Taurus)
Mammalia MAN2C1 34
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAN2C1 33 34
  • 88.59 (n)
mouse
(Mus musculus)
Mammalia Man2c1 33 16 34
  • 87.22 (n)
rat
(Rattus norvegicus)
Mammalia Man2c1 33
  • 85.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 71 (a)
OneToMany
-- 34
  • 71 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia MAN2C1 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAN2C1 34
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAN2C1 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia man2c1 33
  • 63.34 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC569595 33
  • 62.62 (n)
man2c1 34
  • 62 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR385C 33
  • 47.99 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AMS1 33 34 36
  • 44.96 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07404 33
  • 50.85 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 50 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ams1 33
  • 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 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)

Paralogs for MAN2C1 Gene

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

No data available for Paralogs for MAN2C1 Gene

Variants for MAN2C1 Gene

Sequence variations from dbSNP and Humsavar for MAN2C1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1000139237 -- 75,360,370(+) CTCCC(C/T)GCAGC intron-variant
rs1000515208 -- 75,366,056(+) TACTC(C/T)AGCAT intron-variant
rs1000833291 -- 75,370,126(+) GCAGC(C/T)ACTCA upstream-variant-2KB, utr-variant-3-prime
rs1001015754 -- 75,365,066(+) ATTCA(C/T)TGGAG intron-variant
rs1001277401 -- 75,365,744(+) AAAAA(A/C/G)CCCCC intron-variant

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)

Relevant External Links for MAN2C1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAN2C1

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

Disorders for MAN2C1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MAN2C1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
pneumatosis cystoides intestinalis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MAN2C1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  2. 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 60
  3. Inhibition of the alpha-mannosidase Man2c1 gene expression enhances adhesion of Jurkat cells. (PMID: 16721356) Qu L … Zhu LP (Cell research 2006) 3 22 60
  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 60
  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 60

Products for MAN2C1 Gene

Sources for MAN2C1 Gene

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