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FLASH GENE
Symbol HEPACAM2 contributors: mct/npt/pgu - updated : 13-01-2017
HGNC name HEPACAM family member 2
HGNC id 27364
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 - 2155 - 462 - 2009 19358830
  • variant 1 or Miki alpha
  • exon 1a
  • encode distinctive 26- amino acid (AA) N-terminus which precede the same 436-AA C-terminal sequence
  • 9 - 2148 - 450 - 2009 19358830
  • variant 2 or Miki beta
  • exon 1b
  • encode distinctive 14-amino acid (AA) N-terminus, respectively, which precede the same 436-AA C-terminal sequence
  • 11 - 2225 - 485 - 2009 19358830
    8 - 2123 - 455 - 2009 19358830
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestine    
    Endocrinepancreas    
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal hydrophobic region
  • a central region homologous to the immunoglobulin superfamily cell adhesion molecule
  • a transmembrane domain-like region
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    text
  • locates to mitotic spindles and centrosomes
  • localizes to the Golgi apparatus
  • basic FUNCTION
  • its downregulation may be implicated in mitosis with scattered chromosomes and bi- or tri-nucleated cells that are routinely observed in myeloid malignancies
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • poly(ADP-ribosyl)ated by TNKS during late G2 and prophase
  • cell & other
    REGULATION
    inhibited by by RNA interference induced abnormalities in mitosis and nuclear morphology, similar to myelodysplasia
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    in acute myeloid leukemia, myelodysplastic syndrome (MDS), and juvenile myelomonocytic leukemia (JMML)
    Susceptibility
    Variant & Polymorphism
    Candidate gene for both mental retardation and microcephaly in del7q21 with myoclonus dystonia plus syndrome.
    Marker
    Therapy target
    ANIMAL & CELL MODELS