Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CFHR4 contributors: mct - updated : 15-09-2021
HGNC name complement factor H-related 4
HGNC id 16979
Location 1q31.3      Physical location : 196.857.211 - 196.887.762
Synonym symbol(s) FHR4, FHR-4, CFHL4, RP4-608O15.2
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
text clustered with CFHL3, CFHL2, CFHL1
STRUCTURE 30.86 kb     7 Exon(s)
MAPPING cloned Y linked N status provisional
regionally located closely linked to HF1 gene
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- splicing - 63 559 plasma, liver 1999 10622723
  • nine complement control protein (CCP) domains
    • 6 - 1322 - 331 - 1999 10622723
    10 - 2063 - 578 - 1999 10622723
    10 - 2060 - 577 - 1999 10622723
    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 plasma
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a 19 amino acid signal peptide
  • four N-linked glycosylation sites
  • five short consensus repeats (SCRs)
  • five CCP (complement control protein) domains
    • conjugated LipoP
    mono polymer homomer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • factor H protein family
    • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION extracellular
    text secreted in plasma
    basic FUNCTION
  • lipid transporter activity
  • enhancing the cofactor activity of factor H in C3b inactivation
  • FHR4 is a key molecular player contributing to complement dysregulation in Age-related macular degeneration (AMD)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein binding to C3b and C3d
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in Age-related macular degeneration (AMD)
    Susceptibility to AMD (age-related macular degeneration)
    Variant & Polymorphism other
  • a rare deletion encompassing CFHR1 and CFHR4 as being protective against AMD
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS