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SFRP4

Chr 7p14.1

secreted frizzled related protein 4

Aliases:
frpHE, FRP-4, FRPHE, FRZB-2
MANE:
ENST00000436072.7
OMIM: 606570 ↗NCBI: 6424 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Limb disorders

    BIALLELIC, autosomal or pseudoautosomal

  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Pyle disease

    0.72

  • Metaphyseal dysplasia

    0.46

  • colorectal adenocarcinoma

    0.38

  • gastric carcinoma

    0.38

  • esophageal adenocarcinoma

    0.38

  • colon adenocarcinoma

    0.37

  • skin basal cell carcinoma

    0.37

  • embryonal rhabdomyosarcoma

    0.37

  • skin squamous cell carcinoma

    0.37

  • hepatocellular carcinoma

    0.30

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

Protein function (UniProt)

Secreted frizzled-related protein 4

Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types (By similarity). SFRP4 plays a role in bone morphogenesis. May also act as a regulator of adult uterine morphology and function. May also increase apoptosis during ovulation possibly through modulation of FZ1/FZ4/WNT4 signaling (By similarity). Has phosphaturic effects by specifically inhibiting sodium-dependent phosphate uptake (PubMed:12952927)

Diseases associated with SFRP4

Curated MONDO disease pages that list SFRP4 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.