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NPR3

Chr 5p13.3

natriuretic peptide receptor 3

Aliases:
GUCY2B, FLJ14054
MANE:
ENST00000265074.13

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal
  • Familial Meniere Disease

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

Disease associations (Open Targets)

  • Boudin-Mortier syndrome

    0.69
  • hypertensive disorder

    0.53
  • essential hypertension

    0.48
  • Increased blood pressure

    0.46
  • Abnormality of the skeletal system

    0.45
  • cardiovascular disorder

    0.44
  • alcohol drinking

    0.43
  • major depressive disorder

    0.40
  • atrial fibrillation

    0.39
  • congestive heart failure

    0.39

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

Protein function (UniProt)

Atrial natriuretic peptide receptor 3

Receptor for the natriuretic peptide hormones, binding with similar affinities atrial natriuretic peptide NPPA/ANP, brain natriuretic peptide NPPB/BNP, and C-type natriuretic peptide NPPC/CNP. May function as a clearance receptor for NPPA, NPPB and NPPC, regulating their local concentrations and effects. Acts as a regulator of osteoblast differentiation and bone growth by binding to its ligand osteocrin, thereby preventing binding between NPR3/NPR-C and natriuretic peptides, leading to increase cGMP production (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.