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SCARF2

Chr 22q11.21

scavenger receptor class F member 2

Aliases:
SREC-II, SREC2, HUMZD58C02
MANE:
ENST00000622235.5

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Arthrogryposis

    BIALLELIC, autosomal or pseudoautosomal
  • Clefting

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Rare syndromic craniosynostosis or isolated multisuture synostosis

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • van den Ende-Gupta syndrome

    0.77
  • Abnormality of the skeletal system

    0.54
  • open-angle glaucoma

    0.34
  • severe acute respiratory syndrome

    0.32
  • COVID-19

    0.32
  • poisoning

    0.29
  • response to xenobiotic stimulus

    0.29
  • neurodegenerative disease

    0.27
  • hereditary disease

    0.19
  • microcephaly

    0.11

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

Protein function (UniProt)

Scavenger receptor class F member 2

Probable adhesion protein, which mediates homophilic and heterophilic interactions. In contrast to SCARF1, it poorly mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL) (By similarity)

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.