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FLASH GENE
Symbol MAN2C1 contributors: mct/npt - updated : 08-03-2022
HGNC name mannosidase, alpha, class 2C, member 1
HGNC id 6827
Corresponding disease
CDDG2 congenital disorder of deglycosylation 2
Location 15q24.2      Physical location : 75.648.134 - 75.660.941
Synonym name
  • mannosidase, alpha A, cytoplasmic
  • alpha-D-mannoside mannohydrolase
  • alpha mannosidase 6A8B
  • Synonym symbol(s) MANA, MAN6A8, MANA1, MGC87979, DKFZp686E23167
    EC.number 3.2.1.24
    DNA
    TYPE functioning gene
    STRUCTURE 12.82 kb     26 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    26 - 3261 - 1040 - 2013 23486476
    24 - 2964 - 941 - 2013 23486476
    31 - 3192 - 1017 - 2013 23486476
    26 - 3312 - 1057 - 2013 23486476
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen   highly
    Nervousbrain   highly
    Reproductivemale systemtestis  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a short cytoplasmic tail
  • a single transmembrane segment (TM1)
  • a large C-terminal catalytic domain
  • HOMOLOGY
    interspecies ortholog to murine Man2c1
    ortholog to rattus man2c1
    Homologene
    FAMILY
  • glycosyl hydrolase 38 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    text type II transmembrane protein
    basic FUNCTION
  • involved in hydrolysis of terminal, non-reducing alpha-D- mannose residues in alpha-D-mannosides
  • involved in the degradation of oligomannosides derived from dolichol intermediates and the degradation of newly synthesized glycoproteins
  • playing a role in T-cell functioning
  • alpha-mannosidase, involved in the processing of free oligosaccharides that are formed in the cytosol
  • plays an essential role in the catabolism of cytosolic free oligomannosides, which are released from the degraded proteins
  • MAN2C1 has dual functions: one in glycan catabolism and another in apoptotic signaling
  • enzyme responsible for the partial demannosylation occurring in the cytosol
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interact with PTEN (phosphatase and tensin homolog), inhibiting its lipid phosphatase activity
  • MAN2C1 function as a PTEN-negative regulator in Prostate cancer cells
  • cell & other
    REGULATION
    Other regulation of MAN2C1 expression is essential for maintaining efficient protein N-glycosylation
    ASSOCIATED DISORDERS
    corresponding disease(s) CDDG2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    causes mitochondria-dependent apoptosis independently of its alpha-mannosidase activity
    constitutional   deletion    
    in intellectual disability with microdeletion
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestiveoesophagus
    inhibition of alpha-mannosidase MAN2C1 gene expression suppresses growth of esophageal carcinoma cells through mitotic arrest and apoptosis
    ANIMAL & CELL MODELS
  • Man2c1-deficient mice accumulate fOS (Free oligosaccharides) in tissues and show biochemical and histological alterations in the central nervous system (CNS), liver, and intestine
  • accumulation of free oligosaccharides and tissue damage in cytosolic Man2c1 -deficient mice