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FLASH GENE
Symbol CFHR5 contributors: mct - updated : 27-06-2018
HGNC name complement factor H-related 5
HGNC id 24668
Corresponding disease
C3G3 nephropathy due to CFHR5 deficiency
HUS3 hemolytic-uremic syndrome, atypical 3
Location 1q31.3      Physical location : 196.946.666 - 196.978.801
Synonym name factor H-related protein 5
Synonym symbol(s) FHR-5, FHR5, FLJ10549, CFHL5, CFHL5D, MGC133240
DNA
TYPE functioning gene
STRUCTURE 34.70 kb     10 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 - 2814 - 569 - 2020 32928961
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
Nervousbrain    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentral   
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron
cell lineage
cell lines
fluid/secretion
at STAGE
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