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CFHR4

Chr 1q31.3

complement factor H related 4

Aliases:
FHR-4, FHR4
MANE:
ENST00000608469.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Atypical haemolytic uraemic syndrome

    Unknown
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • age-related macular degeneration

    0.49
  • retinal disorder

    0.41
  • macular degeneration

    0.41
  • complement deficiency

    0.37
  • neurodegenerative disease

    0.29
  • placental abruption

    0.24
  • kidney disorder

    0.12
  • hepatocellular carcinoma

    0.10
  • degeneration of macula and posterior pole

    0.10
  • neoplasm

    0.09

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

Protein function (UniProt)

Complement factor H-related protein 4

Involved in complement regulation. Can associate with lipoproteins and may play a role in lipid metabolism

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.