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FLASH GENE
Symbol CFHR3 contributors: mct/ - updated : 25-06-2011
HGNC name complement factor H-related 3
HGNC id 16980
Location 1q31.3      Physical location : 196.743.929 - 196.763.203
Synonym name
  • complement factor H-related 3
  • H factor-like 4
  • Synonym symbol(s) FHR3, HLF4, FHR-3, DOWN16, CFHL3
    DNA
    TYPE functioning gene
    STRUCTURE 19.27 kb     6 Exon(s)
    MAPPING cloned Y linked N status provisional
    regionally located closely linked to HF1 gene
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 1484 - 269 - 1999 10380701
    6 - 1667 - 330 - 1999 10380701
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver   highly
     mouth    
    Respiratoryrespiratory tractlarynx  highly
    cell lineage
    cell lines
    fluid/secretion plasma
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a 19 AAs signal peptide
  • four N-linked glycosylation sites
  • five short consensus repeats (SCRs)
  • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION extracellular
    text secreted in the plasma
    basic FUNCTION
  • enhances the cofactor activity of factor H in C3b inactivation
  • is a complement inhibitor
  • acts as cofactor for factor I in inactivating C3b
  • displays anti-inflammatory effects by blocking C5a generation and C5a-mediated chemoattraction of neutrophils
  • CFHR3 and CFHR1 inhibit C5a generation and complement-mediated chemotaxis of neutrophils
  • may be involved in the regulation of complement during synapse elimination, and were found to be deleted in a Z-RTT (Rett milder Zappella variant) but duplicated in two classic patients
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to C3b and C3d
  • binding to heparin
  • novel human complement regulator of the C3 convertase that acts in concert with CFHR1 and factor H
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    is considered to have a protective effect against age-related macular degeneration (AMD)(
    Susceptibility
  • to age-related macular degeneration (AMD)
  • to meningococcal disease
  • to atypical hemolytic uremic syndrome
  • Variant & Polymorphism insertion/deletion
  • deletion of CFHR1 with deletion of CFHR3, associated with lower risk of age-related macular degeneration
  • prevalence of factor H autoantibodies was decreased in AMD patients
  • SNP in CFH-related protein 3 (CFHR3)rs426736 associated with host susceptibility to meningococcal disease
  • association of factor H autoantibodies with deletions of CFHR3 in atypical hemolytic uremic syndrome
  • delta-CFHR3/CFHR1 confers a protective effect against AMD development independent of the sequence variants of factor H
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS