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PROK2

Chr 3p13

prokineticin 2

Aliases:
PK2, BV8, MIT1, KAL4
MANE:
ENST00000295619.4

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Hypogonadotropic hypogonadism

    BIALLELIC, autosomal or pseudoautosomal
  • Hypogonadotropic hypogonadism (GMS)

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hypogonadotropic hypogonadism

    0.73
  • hypogonadotropic hypogonadism 4 with or without anosmia

    0.69
  • Kallmann syndrome

    0.50
  • hereditary disease

    0.45
  • male infertility with azoospermia or oligozoospermia due to single gene mutation

    0.34
  • Male infertility with spermatogenesis disorder

    0.33
  • Alzheimer disease

    0.29
  • smoking initiation

    0.27
  • malignant renal pelvis neoplasm

    0.22
  • dermatophytosis

    0.21

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

Protein function (UniProt)

Prokineticin-2

May function as an output molecule from the suprachiasmatic nucleus (SCN) that transmits behavioral circadian rhythm. May also function locally within the SCN to synchronize output. Potently contracts gastrointestinal (GI) smooth muscle

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.