Skip to content
GenoLensGenoLens

PAN2

Chr 12q13.3

poly(A) specific ribonuclease subunit PAN2

Aliases:
KIAA0710, hPAN2
MANE:
ENST00000440411.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodegenerative disease

    0.50
  • syndromic complex neurodevelopmental disorder

    0.18
  • psoriasis

    0.17
  • psoriasis vulgaris

    0.10
  • colorectal carcinoma

    0.08
  • type 2 diabetes mellitus

    0.08
  • coronary artery disorder

    0.08
  • bladder transitional cell carcinoma

    0.07
  • non-small cell lung carcinoma

    0.07
  • skin disorder

    0.05

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

Protein function (UniProt)

Retinol dehydrogenase 14

Retinol dehydrogenase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinol. Shows a very weak activity towards 13-cis-retinol. Has no activity towards steroid

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.