Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MAN2C1 Gene

Aliases for MAN2C1 Gene

  • Mannosidase Alpha Class 2C Member 1 2 3 4
  • Mannosidase, Alpha, Class 2C, Member 1 2 3 5
  • Alpha-D-Mannoside Mannohydrolase 3 4
  • Alpha Mannosidase 6A8B 3 4
  • EC 3.2.1.24 4 63
  • MANA1 3 4
  • MANA 3 4
  • Mannosidase, Alpha A, Cytoplasmic 3
  • Testicular Tissue Protein Li 115 3
  • Mannosidase, Alpha 6A8 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 Glycosaminoglycan metabolism and Metabolism. 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around MAN2C1 on UCSC Golden Path with GeneCards custom track

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=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

Proteomics data for MAN2C1 Gene at MOPED

Selected DME Specific Peptides for MAN2C1 Gene

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:0004559 alpha-mannosidase activity IEA,TAS --
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:

Animal Model Products

miRNA for MAN2C1 Gene

miRTarBase miRNAs that target MAN2C1

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components 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: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

(2) 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) 81
1-Deoxynojirimycin Experimental Pharma Glucosidase I and II inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Deoxymannojirimycin hydrochloride
73465-43-7
castanospermine
79831-76-8
OGT 2115
853929-59-6

(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
OGT 2115 Antiangiogenic. Heparanase inhibitor 853929-59-6
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:

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 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



SOURCE GeneReport for Unigene cluster for MAN2C1 Gene Hs.26232

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

Protein tissue co-expression partners for MAN2C1 Gene

- Elite partner

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
dog
(Canis familiaris)
Mammalia MAN2C1 35
  • 88.59 (n)
  • 91.47 (a)
MAN2C1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Man2c1 35
  • 87.22 (n)
  • 90.15 (a)
Man2c1 16
Man2c1 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MAN2C1 35
  • 98.66 (n)
  • 98.8 (a)
MAN2C1 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Man2c1 35
  • 85.79 (n)
  • 87.61 (a)
cow
(Bos Taurus)
Mammalia MAN2C1 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAN2C1 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 71 (a)
OneToMany
-- 36
  • 71 (a)
OneToMany
chicken
(Gallus gallus)
Aves MAN2C1 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAN2C1 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia man2c1 35
  • 63.34 (n)
  • 65.28 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC569595 35
  • 62.62 (n)
  • 62.43 (a)
man2c1 36
  • 62 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR385C 35
  • 47.99 (n)
  • 38.93 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AMS1 35
  • 44.96 (n)
  • 39.24 (a)
AMS1 36
  • 33 (a)
OneToOne
AMS1 38
bread mold
(Neurospora crassa)
Ascomycetes NCU07404 35
  • 50.85 (n)
  • 42.25 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ams1 35
  • 46.79 (n)
  • 41.98 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
OneToOne
Species with no ortholog for MAN2C1:
  • 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
rs3803466 - 75,356,309(+) CTTGA(C/T)GGTCT nc-transcript-variant, downstream-variant-500B, reference, missense
rs3803467 - 75,356,339(+) AGACA(C/T)GGAAA nc-transcript-variant, downstream-variant-500B, reference, missense
rs5745934 - 75,356,182(+) ACAGC(C/T)TCAGG nc-transcript-variant, reference, missense
rs58557444 - 75,358,295(+) GCACG(C/T)GAGCA nc-transcript-variant, downstream-variant-500B, reference, missense
rs200595616 - 75,362,384(+) CCCAC(A/G)GCACG nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv2749894 CNV Deletion 23290073
nsv1615 CNV Insertion 18451855
nsv904386 CNV Gain 21882294

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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. 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 67
  2. 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 23
  3. Inhibition of the alpha-mannosidase Man2c1 gene expression enhances adhesion of Jurkat cells. (PMID: 16721356) Qu L. … Zhu L.P. (Cell Res. 2006) 3 23
  4. 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
  5. Assignment of cytoplasmic alpha-mannosidase (MANA) and confirmation of mitochondrial isocitrate dehydrogenase (IDHM) to the q11 leads to qter region of chromosome 15 in man. (PMID: 752528) Champion M.J. … Shows T.B. (Cytogenet. Cell Genet. 1978) 2 3

Products for MAN2C1 Gene

Sources for MAN2C1 Gene

Content