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FLASH GENE
Symbol RHD contributors: mct - updated : 15-11-2011
HGNC name Rhesus blood group, D antigen
HGNC id 10009
Corresponding disease
RH Rhesus blood group
RHECT blood group red-cell phenotype Rh-Evans (D..)
Location 1p36.11      Physical location : 25.598.980 - 25.656.935
Synonym name
  • Rh blood group system D-antigen
  • RhD type IIIa protein
  • Rhesus blood group CcEe antigene
    • Synonym symbol(s) CD240D, DIIIc, RH, RH30, RHCE, RHCED, RHDVA(TT), RHDel, RHPII, RHXIII, Rh30a, Rh4, RhDCw, RhII, RhK562-II, RhPI, rhesus D
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem, opposite orientation, tail to tail
    text arranged tail to tail and in tandem with RHCE
    STRUCTURE 57.96 kb     8 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    text structure
  • mutationel hot spots and low K values (numbers of substitutions per nucleotide site)
  • repetition,various STRs (short tandem repeats)
  • 25,9% of Alu concentrated in several region
    • MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 2833 45 417 - 1999 9920819
    7 splicing 2545 - 321 exclusively in an erythroleukemia cell line 1999 9920819
    lacking two internal exons frameshift
    - - - - - - 1999 9920819
    hybrid RHCE-RHD
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
     stomach    
    Urinarybladder    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticerthrocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophobic
    STRUCTURE
    motifs/domains
  • twelve transmembrane segments (12TM)
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY antigen , transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • involved in ammonium transport
  • 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
    PATHWAY
    metabolism
    signaling
    a component
  • component of a complex with RHCE
  • fatty acylated integral red cell membrane protein component
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other cell surface expression posttranscriptionally regulated by RHAG
    ASSOCIATED DISORDERS
    corresponding disease(s) RH , RHECT
    Susceptibility
    Variant & Polymorphism other totally or partially absent in the Caucasian RH-negative phenotype
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS