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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 61
  • 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 Lysosomal oligosaccharide catabolism. GO annotations related to this gene include carbohydrate binding and alpha-mannosidase activity.

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 , UniProtKB/Swiss-Prot , 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
GH15F075443 1.3 Ensembl ENCODE 85.8 -74.9 -74933 2.0 BCOR PKNOX1 JUN ZMYM3 CEBPG GLI4 ZIC2 ZNF316 PRDM10 ZNF548 MAN2C1 ENSG00000260274 MIR631 ENSG00000203392 DNM1P34 ENSG00000276744 ENSG00000261714
GH15F075449 1.3 FANTOM5 ENCODE 75 -84.2 -84243 8.1 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 MAN2C1 ENSG00000260274 DNM1P35 DNM1P34 SNUPN LOC105370902 LOC441728 DNM1P49 EDC3 ENSG00000203392
GH15F075577 1.1 ENCODE 73.6 -209.7 -209655 3.0 PKNOX1 ARID4B SIN3A DMAP1 ZNF48 GLIS2 ZNF263 MXD4 REST SMARCB1 MAN2C1 SNUPN PTPN9 ENSG00000259931
GH15F075335 0.8 ENCODE 73.5 +32.9 32894 2.0 PKNOX1 ARNT MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 MAN2C1 SNX33 ENSG00000203392 FBXO22 SNUPN LOC105370902 DNM1P49 LOC441728 COMMD4 DNM1P35
GH15F075584 0.5 Ensembl 73.5 -215.1 -215087 0.4 ZFHX2 EGR2 MAN2C1 PTPN9 ENSG00000260269
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00000022237 514 1601 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3

Genomic Location for MAN2C1 Gene

Chromosome:
15
Start:
75,353,611 bp from pter
End:
75,369,114 bp from pter
Size:
15,504 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=Zn(2+); Xref=ChEBI:CHEBI:29105;
    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 Lys 750
  • Modification sites at PhosphoSitePlus

Domains & Families for MAN2C1 Gene

Gene Families for MAN2C1 Gene

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.

Enzyme Numbers (IUBMB) for MAN2C1 Gene

Gene Ontology (GO) - Molecular Function for MAN2C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA --
GO:0004559 alpha-mannosidase activity TAS --
GO:0008270 zinc ion binding IEA --
GO:0015923 mannosidase activity IEA --
GO:0016787 hydrolase activity 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

miRNA for MAN2C1 Gene

miRTarBase miRNAs that target MAN2C1

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for MAN2C1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MAN2C1 Gene COMPARTMENTS Subcellular localization image for MAN2C1 gene
Compartment Confidence
vacuole 4
nucleus 3
cytosol 2
endoplasmic reticulum 1
extracellular 1
lysosome 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MAN2C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005773 vacuole IBA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MAN2C1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MAN2C1 Gene

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) 85
1-Deoxynojirimycin Experimental Pharma Glucosidase I and II inhibitor 26
Kifunensine Experimental Pharma Inhibitor of class I alpha-mannosidases 0
Swainsonine Experimental 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:

Inhibitory RNA Products

Flow Cytometry Products

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

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34 35
  • 98.66 (n)
cow
(Bos Taurus)
Mammalia MAN2C1 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAN2C1 34 35
  • 88.59 (n)
mouse
(Mus musculus)
Mammalia Man2c1 34 16 35
  • 87.22 (n)
rat
(Rattus norvegicus)
Mammalia Man2c1 34
  • 85.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 71 (a)
OneToMany
-- 35
  • 71 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia MAN2C1 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAN2C1 35
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAN2C1 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia man2c1 34
  • 63.34 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC569595 34
  • 62.62 (n)
man2c1 35
  • 62 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR385C 34
  • 47.99 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AMS1 34 35 37
  • 44.96 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07404 34
  • 50.85 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 50 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ams1 34
  • 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
rs111373622 -- 75,359,398(+) GAGCA(C/T)AGCCC nc-transcript-variant, reference, synonymous-codon, missense
rs111639964 -- 75,369,752(+) CCCCT(A/T)TGGTT upstream-variant-2KB, utr-variant-3-prime
rs112062956 -- 75,365,310(+) GAAAC(A/T)GTGTC intron-variant
rs112226542 -- 75,360,485(+) TGGGC(A/T)CTGTC intron-variant
rs112273984 -- 75,355,805(+) CCAAG(A/G)ATTTA nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime

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 L.P. (Cancer Sci. 2008) 3 22 64
  2. Inhibition of the alpha-mannosidase Man2c1 gene expression enhances adhesion of Jurkat cells. (PMID: 16721356) Qu L. … Zhu L.P. (Cell Res. 2006) 3 22 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Towards 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 Res. 2001) 3 4 64
  5. 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 64

Products for MAN2C1 Gene

Sources for MAN2C1 Gene

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