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NANOS3

Chr 19p13.12

nanos C2HC-type zinc finger 3

Aliases:
NANOS1L, NOS3
MANE:
ENST00000339133.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Primary ovarian insufficiency

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • neurodegenerative disease

    0.36
  • primary ovarian failure

    0.20
  • Abnormality of the skeletal system

    0.19
  • Premature ovarian insufficiency

    0.19
  • spermatogenic failure

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

    0.07
  • partial chromosome Y deletion

    0.07
  • non-syndromic male infertility due to sperm motility disorder

    0.07
  • asthma

    0.06
  • spermatogenic failure 50

    0.06

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

Protein function (UniProt)

Nanos homolog 3

Plays a role in the maintenance of the undifferentiated state of germ cells regulating the spermatogonia cell cycle and inducing a prolonged transit in G1 phase. Affects cell proliferation probably by repressing translation of specific mRNAs. Maintains the germ cell lineage by suppressing both Bax-dependent and -independent apoptotic pathways. Essential in the early stage embryo to protect the migrating primordial germ cells (PGCs) from apoptosis

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.