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FLASH GENE
Symbol CFHR2 contributors: mct - updated : 15-09-2021
HGNC name complement factor H-related 2
HGNC id 4890
Location 1q31.3      Physical location : 196.912.933 - 196.928.356
Synonym name
  • factor H-related gene 2
  • H factor (complement)-like 3
  • Synonym symbol(s) HFL3, FHR2, CFHL2
    DNA
    TYPE functioning gene
    STRUCTURE 15.88 kb     5 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 1498 - 270 - 1995 7672821
    3 - 704 - 146 - 1995 7672821
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    cell lineage
    cell lines
    fluid/secretion serum
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a signal peptide
  • four short consensus repeat domains (SCRs)
  • four N-glycosylation sites
  • conjugated GlycoP
    mono polymer heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY immunity/defense , regulatory
    SUBCELLULAR LOCALIZATION extracellular
    text secreted
    basic FUNCTION
  • might be involved in complement regulation
  • can associate with lipoproteins and may play a role in lipid metabolism
  • CFHR2 likely acts in concert with factor H, as CFHR2 inhibits convertases while simultaneously allowing factor H assisted degradation by factor I
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
  • CFHR1, CFHR2, and CFHR5 homodimerize, with CFHR1 and CFHR2 forming heterodimers as well, and equilibrate quickly in plasma
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional fusion      
    CFHR5-CFHR2 fusion gene in familial C3 glomerulonephritis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS