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Aliases for MAN2C1 Gene

Aliases for MAN2C1 Gene

  • Mannosidase, Alpha, Class 2C, Member 1 2 3
  • MANA 3 4 6
  • Alpha-D-Mannoside Mannohydrolase 3 4
  • Alpha Mannosidase 6A8B 3 4
  • EC 3.2.1.24 4 63
  • MANA1 3 4
  • Mannosidase Alpha Class 2C Member 1 4
  • Mannosidase, Alpha A, Cytoplasmic 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 mannosidosis. Among its related pathways are Other glycan degradation. GO annotations related to this gene include carbohydrate binding and alpha-mannosidase activity.

Tocris Summary for MAN2C1 Gene

  • Mannosidases are divided into two subtypes; I and II, (EC numbers 3.2.1.113 and 3.2.1.114 respectively) which display a wide expression pattern. Mannosidase I hydrolyzes (1,2)-linked alpha-D-mannose residues in the oligo-mannose oligosaccharide Man9(GlcNAc)2 and mannosidase II hydrolyzes (1,3)- and (1,6)-linked alpha-D-mannose residues in Man5(GlcNAc)3. Both subtypes require a divalent cation cofactor. Mutations in mannosidases can cause mannosidosis (mannosidase I deficiency).

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

Genomic Location for MAN2C1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds 1 zinc ion per subunit.;
    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 Lys750
  • Modification sites at PhosphoSitePlus

Domains for MAN2C1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NTJ4

UniProtKB/Swiss-Prot:

MA2C1_HUMAN :
  • Q9NTJ4
Family:
  • Belongs to the glycosyl hydrolase 38 family.
genes like me logo Genes that share domains with MAN2C1: view

No data available for Gene Families for MAN2C1 Gene

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:0003824 catalytic activity --
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds --
GO:0004559 alpha-mannosidase activity IEA --
GO:0008270 zinc ion binding IEA --
GO:0015923 mannosidase activity --
genes like me logo Genes that share ontologies with MAN2C1: view

Phenotypes for MAN2C1 Gene

GenomeRNAi human phenotypes for MAN2C1:
genes like me logo Genes that share phenotypes with MAN2C1: view

miRNA for MAN2C1 Gene

miRTarBase miRNAs that target MAN2C1

No data available for Animal Models , Transcription Factor Targeting 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
extracellular 2
nucleus 2
cytosol 1
endoplasmic reticulum 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 for MAN2C1 Gene

SuperPathways for MAN2C1 Gene

Superpath Contained pathways
1 Other glycan degradation
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 --
GO:0006013 mannose metabolic process IEA --
genes like me logo Genes that share ontologies with MAN2C1: view

Compounds for MAN2C1 Gene

(5) Tocris Compounds for MAN2C1 Gene

Compound Action Cas Number
1-Deoxynojirimycin Glucosidase I and II inhibitor [19130-96-2]
Castanospermine Glucosidases alpha and beta inhibitor [79831-76-8]
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]
Voglibose Orally active alpha-glucosidase inhibitor [83480-29-9]
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

Integrated Proteomics: protein expression 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 expressions with MAN2C1: view

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 35
  • 98.66 (n)
  • 98.8 (a)
MAN2C1 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MAN2C1 36
  • 90 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia MAN2C1 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 71 (a)
OneToMany
-- 36
  • 71 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Man2c1 35
  • 85.79 (n)
  • 87.61 (a)
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 MAF
rs15970 -- 75,356,014(-) GAGCG(A/G)CCAGA reference, synonymous-codon
rs1128933 -- 75,358,495(-) CTGGA(C/T)GTTGG reference, synonymous-codon
rs1128978 -- 75,355,958(-) CTTTT(C/T)TCCCT reference, missense
rs1128987 -- 75,355,878(-) TTGTA(A/G)AAGGC utr-variant-3-prime
rs1128989 -- 75,355,871(-) AGGCT(C/T)TGGGG utr-variant-3-prime

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

Relevant External Links for MAN2C1 Gene

HapMap Linkage Disequilibrium report
MAN2C1

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

Disorders for MAN2C1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for MAN2C1 Gene including...

Search for MAN2C1 Gene in MalaCards »
genes like me logo Genes that share disorders with MAN2C1: view

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

Publications for MAN2C1 Gene

  1. 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
  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 23
  3. 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
  4. 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
  5. 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

Products for MAN2C1 Gene

  • antibodies-online proteins for MAN2C1
  • antibodies-online antibodies for MAN2C1
  • antibodies-online kits for MAN2C1

Sources for MAN2C1 Gene

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