MED15

Chr 22

mediator complex subunit 15

Also known as: ARC105, CAG7A, CTG7A, PCQAP, TIG-1, TIG1, TNRC7

NCBI Gene: 51586 ENSG00000099917 UniProt: Q96RN5

This protein is a component of the Mediator complex that serves as a coactivator for RNA polymerase II-dependent gene transcription and is required for cholesterol-dependent gene regulation. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability and developmental delay. The gene is highly constrained against loss-of-function mutations (pLI >0.99), indicating that such variants are likely pathogenic when they occur.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a subunit of the multiprotein complexes PC2 and ARC/DRIP and may function as a transcriptional coactivator in RNA polymerase II transcription. This gene contains stretches of trinucleotide repeats and is located in the chromosome 22 region which is deleted in DiGeorge syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.24

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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