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FLASH GENE
Symbol MAN2A1 contributors: mct - updated : 16-02-2008
HGNC name mannosidase, alpha, class 2A, member 1
HGNC id 6824
Corresponding disease
CDAN2B congenital dyserythropoietic anemia, type II
Location 5q21-q22      Physical location : 109.025.155 - 109.203.429
Synonym name
  • Golgi alpha mannosidase-2
  • Golgi alpha-mannosidase II
  • golgi integral membrane protein 7
  • Synonym symbol(s) MANA2, GOLIM7, MANII
    EC.number 3.2.1.114
    DNA
    TYPE functioning gene
    STRUCTURE 178.00 kb     22 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D5S495 - PAM - D5S409 - D5S505 - D5S669 - D5S475 - FER - MAN2A1 - D5S492 - qter
    Authors GeneMap (98)
    Physical map
    LOC345571 5q21.3 similar to rap2 interacting protein x LOC391817 5 similar to protease (prosome, macropain) 26S subunit, ATPase 1 EFNA5 5q21 ephrin-A5 LOC391818 5 similar to Ubiquitin carboxyl-terminal hydrolase 7 (Ubiquitin thiolesterase 7) (Ubiquitin-specific processing protease 7) (Deubiquitinating enzyme 7) (Herpesvirus associated ubiquitin-specific protease) LOC345576 5q21.3 similar to Ubiquitin carboxyl-terminal hydrolase 7 (Ubiquitin thiolesterase 7) (Ubiquitin-specific processing protease 7) (Deubiquitinating enzyme 7) (Herpesvirus associated ubiquitin-specific protease) FBXO13 5q21.3 F-box only protein 13 RPS20P3 5q13-q23 ribosomal protein S20 pseudogene 3 FER 5q21 fer (fps/fes related) tyrosine kinase (phosphoprotein NCP94) GJA1P1 5q21.3 gap junction protein, alpha 1, 43kDa (connexin 43) pseudogene 1 PJA2 5q21.1 praja 2, RING-H2 motif containing LOC391819 5 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) MAN2A1 5q21-q22 mannosidase, alpha, class 2A, member 1 LOC153778 5q22.1 hypothetical LOC153778 LOC255338 5q22.1 hypothetical LOC255338 LOC91137 5q22.2 hypothetical protein BC017169 LOC134433 5q22.2 similar to Zinc finger DHHC domain containing protein 8 (Zinc finger protein 378) LOC285639 5q22.2 similar to Bcl-2-associated transcription factor TSLP 5q22.2 thymic stromal lymphopoietin TA-WDRP 5q22.2 T-cell activation WD repeat protein LOC133744 5q22.2 similar to ribosomal protein S3a; 40S ribosomal protein S3a; v-fos transformation effector protein 1 CAMK4 5q21-q23 calcium/calmodulin-dependent protein kinase IV STARD4 5q21.3 START domain containing 4, sterol regulated C5orf13 5q22.1 chromosome 5 open reading frame 13 TIGA1 5q21-q22 TIGA1 EPB41L4A 5q22.1 erythrocyte membrane protein band 4.1 like 4A FLJ11235 5q22.2 hypothetical protein FLJ11235 APC 5q21-q22 adenomatosis polyposis coli SRP19 5q21 signal recognition particle 19kDa DP1 5q22-q23 polyposis locus protein 1 XBPP1 5q14.3-q15 X-box binding protein pseudogene 1 U2AF1L1 5q22 U2(RNU2) small nuclear RNA auxillary factor 1-like 1 DCP2 5q22.3 decapping enzyme hDcp2 MCC 5q21 mutated in colorectal cancers STK22D 5q22.2 serine/threonine kinase 22D (spermiogenesis associated) LOC389316 5 LOC389316 FLJ21940 5q22.3 FLJ21940 protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 5128 - 1144 - Crispin (2007)
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Hearing/Equilibriumear   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Connectivebone  highly
    cell lineage mainly, in erythroid cells
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a short cytoplasmic tail
  • a single transmembrane segment (TM1)
  • a large COOH-terminal catalytic domain
  • HOMOLOGY
    interspecies homolog to murine Man2a1
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    text type II transmembrane protein
    basic FUNCTION
  • involved in the processing of newly synthesized N-glycans
  • playing an essential role for the efficient formation of complex-type glycosylation
  • catalyzes the first committed step in the biosynthesis of complex asparagine-linked (N-linked) oligosaccharides (N-glycans)
  • playing an essential role in the formation of erythroid complex N-glycans
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CDAN2B
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS