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FLASH GENE
Symbol RHCE contributors: mct - updated : 09-11-2011
HGNC name Rhesus blood group, CcEe antigens
HGNC id 10008
Corresponding disease
RH Rhesus blood group
RHECT blood group red-cell phenotype Rh-Evans (D..)
RHNA blood group RH-null syndrome
Location 1p36.11      Physical location : 25.688.740 - 25.747.363
Synonym name
  • RHCE blood group variant Crawford antigen Rh43
  • Rh blood group C antigen
  • Rh blood group antigen Evans
  • Rhesus blood group CE protein
    • Synonym symbol(s) RHC, RHERH30A, CD240CE, MGC103977, RH, RH30A, RHD, RHD/RHCE, RHE, RHIXB, RHPI, Rh4, RhIVb(J), RhVI, RhVIII
    DNA
    TYPE functioning gene
    SPECIAL FEATURE gene in gene, opposite orientation, tail to tail
    text
  • arranged tail to tail with RHD
  • SMP1 overlapping 3 prime end and 3 prime UTR of RHCE
    • STRUCTURE 58.64 kb     10 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    motif repetitive sequence   ALU   other
    text structure
  • mutational hot spots and low K values (number of substitutions for nucleotide site)
  • various STR (short tandem repeats 25.7p100 of Alu concentrated in several regions)
    • MAPPING cloned Y linked   status confirmed
    Map pter - RHCE - SMP1 - RHD - cen
    Authors Suto (00)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 1618 - 417 - Tax
    variant 1 RhVIII
    9 - 1484 - 354 - -
  • lacking an internal exon truncated
  • also called Rh4
    • 7 - 1163 - 266 - Tax
  • lacking three internal exon,same ORF
  • variant 1 RhVIII
    • 8 - 1223 - 267 - -
  • also called RhVI
  • lacking an internal exon truncated
    • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland    
    Urinarybladder    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerthrocyte
    cell lineage
  • erytroid/megakaryocyte lineage
  • transcribed in bone marrow-derived mesenchymal stem cells (MSCs)
    • cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated GlycoP , Other
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY antigen , transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • encoding the C/c,E/e antigens
  • RHCE and RHD, may not function directly in ammonia transport and may be evolving a new function in the red blood cell membrane
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text ammonium transport
    PATHWAY
    metabolism
    signaling
    a component
  • component of a complex with SMP1, RHD and RHAG
  • component of a complex with RHD, Rh-associated glycoproteins (RhAG and accessory chains (SMP1 and others) associated by noncovalent bonds
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RH , RHNA , RHECT
    related resource Blood Group Antigen Mutation Database
    Susceptibility
  • to phenotype JAL+
    • Variant & Polymorphism other phenotype JAL+ results from a nucleotide 340C>T (Arg114Trp) on either a Ce or ce background
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS