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FLASH GENE
Symbol EPB42 contributors: - updated : 27-09-2005
HGNC name erythrocyte membrane protein band 4.2
HGNC id 3381
DNA
TYPE functioning gene
SPECIAL FEATURE arranged in tandem
text arranged in tandem with TGM5 and TGM7
STRUCTURE 24.00 kb     13 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   predominantly
 stomach   moderately
Lymphoid/Immunespleen   highly
Reproductivemale systemtestis  moderately
Visualeye   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticerythrocyte
cell lineage
cell lines
fluid/secretion blood
at STAGE
physiological period fetal
Text liver, eye
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
a spectrin-binding domain
conjugated LipoP , PhosphoP
mono polymer dimer , oligo
HOMOLOGY
interspecies ortholog to murine Epb4.2
Homologene
FAMILY
  • transglutaminase family
  • CATEGORY regulatory , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton
    text red blood cell membrane skeleton
    basic FUNCTION
  • only phosphatase in the animal kingdom that contains a carbohydrate-binding module, utilizing a phosphorylated complex carbohydrate as a substrate, a function that may be necessary for the maintenance of normal cellular glycogen
  • probably playing an important role in the regulation of erythrocyte shape and mechanical properties
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • myristate
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • protein
  • cytoplasmic domain of SLC4A1/band 3 anion transport protein
  • binding to the cytoplasmic domain of band 3 (SLC4A1) and interacting with ankyrin in RBCs
  • strongly influences CD47 levels as well as the extent of membrane skeleton attachment in the RBC
  • cell & other
    REGULATION
    Other phosphorylated by both cAMP-dependent kinase (CAPK) and another kinase present in the red-blood cells
    ASSOCIATED DISORDERS
    corresponding disease(s) SPH5
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    in mutant cno/cno mice, the C-terminal 81 amino acids are replaced with 72 different amino acids in the mutant CNO protein, and its ability to interact in BLOC-1 is abolished