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MED16

Chr 19p13.3

mediator complex subunit 16

Aliases:
DRIP92, TRAP95
MANE:
ENST00000325464.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Clefting

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Guillouet-Gordon syndrome

    0.64
  • neurodegenerative disease

    0.49
  • syndromic intellectual disability

    0.42
  • retinitis pigmentosa

    0.30
  • melanoma

    0.15
  • oral cavity carcinoma

    0.15
  • Genu valgum

    0.13
  • Genu varum

    0.13
  • biliary tract disorder

    0.10
  • breast cancer

    0.08

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 16

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.