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TAC3

Chr 12q13.3

tachykinin precursor 3

Aliases:
ZNEUROK1, NKB, NK3, LncZBTB39-1:2, LncZBTB39
MANE:
ENST00000458521.7

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Hypogonadotropic hypogonadism

    BIALLELIC, autosomal or pseudoautosomal
  • Hypogonadotropic hypogonadism (GMS)

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • hypogonadotropic hypogonadism

    0.62
  • hypogonadotropic hypogonadism 10 with or without anosmia

    0.60
  • isolated congenital hypogonadotropic hypogonadism

    0.60
  • Kallmann syndrome

    0.46
  • Delayed puberty

    0.33
  • infertility disorder

    0.33
  • transient ischemic attack

    0.21
  • polycystic ovary syndrome

    0.09
  • 46,XX gonadal dysgenesis

    0.07
  • male infertility with azoospermia or oligozoospermia due to single gene mutation

    0.05

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

Protein function (UniProt)

Tachykinin-3

Tachykinins are active peptides which excite neurons, evoke behavioral responses, are potent vasodilators and secretagogues, and contract (directly or indirectly) many smooth muscles

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.