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CFHR2

Chr 1q31.3

complement factor H related 2

Aliases:
FHR2
MANE:
ENST00000367415.8

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Membranoproliferative glomerulonephritis including C3 glomerulopathy

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • age-related macular degeneration

    0.50
  • complement 3 glomerulopathy

    0.47
  • complement deficiency

    0.37
  • macular degeneration

    0.33
  • pathological myopia

    0.11
  • myopia

    0.11
  • mirror movements 2

    0.07
  • familial congenital mirror movements

    0.07
  • mirror movements 4

    0.07
  • Benign familial chorea

    0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Complement factor H-related protein 2

Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with lipoproteins and may play a role in lipid metabolism

Curated MONDO disease pages that list CFHR2 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.