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FLASH GENE
Symbol CFHR5 contributors: mct - updated : 27-06-2018
HGNC name complement factor H-related 5
HGNC id 24668
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • nine sushi domains (SCR repeat),
  • nine short complement regulator (SCR) domains
  • one immunoglobulin-like c2-type domain
  • HOMOLOGY
    intraspecies homolog to HF1,HF2
    Homologene
    FAMILY complement factor H (CFH) family
    CATEGORY immunity/defense
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • having a role in the development of CNS functions involved in locomotor activity
  • possesses cofactor activity and has been proposed to play a role in complement regulation in the glomerulus
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of immune deposits in kidney with sclerotic lesions from different causes
  • CFHR1, CFHR2, and CFHR5 homodimerize, with CFHR1 and CFHR2 forming heterodimers as well, and equilibrate quickly in plasma
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • FHR5 antagonizes the main circulating CFH, resulting in the deregulation of complement activation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HUS3 , C3G3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional fusion      
    CFHR5-CFHR2 fusion gene in familial C3 glomerulonephritis
    Susceptibility
  • to membranoproliferative glomerulonephritis type II(dense deposit disease)
  • to IgAN (IgA nephropathy)
  • Variant & Polymorphism SNP
  • increasing the risk of membranoproliferative glomerulonephritis type II(dense deposit disease)
  • contribution of rare variants of the CFHR5 gene to IgAN susceptibility
  • Candidate gene
    Marker
  • circulating CFHR5 level is an independent risk factor for IgAN progression
  • Therapy target
    ANIMAL & CELL MODELS