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PARN

Chr 16p13.12

poly(A)-specific ribonuclease

Aliases:
DAN
MANE:
ENST00000437198.7

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Childhood interstitial lung disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • COVID-19 research

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Cytopenia - NOT Fanconi anaemia

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Familial pulmonary fibrosis

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Haematological malignancies cancer susceptibility

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Haematological malignancies for rare disease

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • idiopathic pulmonary fibrosis

    0.79
  • dyskeratosis congenita

    0.78
  • pulmonary fibrosis

    0.59
  • telomere syndrome

    0.42
  • Hoyeraal-Hreidarsson syndrome

    0.37
  • type 1 diabetes nephropathy

    0.34
  • paralytic strabismus

    0.34
  • interstitial lung disease

    0.26
  • metabolic syndrome

    0.23
  • Uterine leiomyoma

    0.22

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

Protein function (UniProt)

Poly(A)-specific ribonuclease PARN

3'-exoribonuclease that has a preference for poly(A) tails of mRNAs, thereby efficiently degrading poly(A) tails. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs and is also used to silence certain maternal mRNAs translationally during oocyte maturation and early embryonic development. Interacts with both the 3'-end poly(A) tail and the 5'-end cap structure during degradation, the interaction with the cap structure being required for an efficient degradation of poly(A) tails. Involved in nonsense-mediated mRNA decay, a critical process of selective degradation of mRNAs that contain premature stop codons. Also involved in degradation of inherently unstable mRNAs that contain AU-rich elements (AREs) in their 3'-UTR, possibly via its interaction with KHSRP. Probably mediates the removal of poly(A) tails of AREs mRNAs, which constitutes the first step of destabilization (PubMed:10882133, PubMed:11359775, PubMed:12748283, PubMed:15175153, PubMed:9736620). Also able to recognize and trim poly(A) tails of microRNAs such as MIR21 and H/ACA box snoRNAs (small nucleolar RNAs) leading to microRNAs degradation or snoRNA increased stability (PubMed:22442037, PubMed:25049417)

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.