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PRDM15

Chr 21q22.3

PR/SET domain 15

MANE:
ENST00000398548.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Proteinuric renal disease

    BIALLELIC, autosomal or pseudoautosomal
  • Unexplained young onset end-stage renal disease - additional genes

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • steroid-resistant nephrotic syndrome

    0.46
  • dementia

    0.29
  • Parkinson disease

    0.29
  • pervasive developmental disorder

    0.27
  • Rare pervasive developmental disorder

    0.27
  • type 2 diabetes mellitus

    0.26
  • insomnia

    0.22
  • fungal infectious disease

    0.17
  • cholangiocarcinoma

    0.07
  • lymphoma

    0.07

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

Protein function (UniProt)

PR domain zinc finger protein 15

Sequence-specific DNA-binding transcriptional regulator. Plays a role as a molecular node in a transcriptional network regulating embryonic development and cell fate decision. Stimulates the expression of upstream key transcriptional activators and repressors of the Wnt/beta-catenin and MAPK/ERK pathways, respectively, that are essential for naive pluripotency and self-renewal maintenance of embryonic stem cells (ESCs). Specifically promotes SPRY1 and RSPO1 transcription activation through recognition and direct binding of a specific DNA sequence in their promoter regions. Involved in early embryo development (By similarity). Also plays a role in induced pluripotent stem cells (iPSCs) reprogramming (PubMed:28740264)

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.