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MED25

Chr 19q13.33

mediator complex subunit 25

Aliases:
ARC92, ACID1, TCBAP0758, DKFZp434K0512
MANE:
ENST00000312865.10

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Clefting

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Corneal abnormalities

    BIALLELIC, autosomal or pseudoautosomal
  • Hereditary neuropathy

    BIALLELIC, autosomal or pseudoautosomal
  • Hereditary neuropathy or pain disorder

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome

    0.77
  • neurodegenerative disease

    0.54
  • Charcot-Marie-Tooth disease type 2B2

    0.51
  • hereditary disease

    0.47
  • Tip-toe gait

    0.46
  • Charcot-Marie-Tooth disease type 2

    0.42
  • syndromic intellectual disability

    0.37
  • autosomal recessive non-syndromic intellectual disability

    0.37
  • Neurodevelopmental delay

    0.33
  • neurodevelopmental disorder

    0.30

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

Protein function (UniProt)

Mediator of RNA polymerase II transcription subunit 9

Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors

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.