MED13

Chr 17q23.2

mediator complex subunit 13

Aliases:: KIAA0593, TRAP240
MANE:: ENST00000397786.7

OMIM: 603808 ↗NCBI: 9969 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

MED13 · Q9UHV7

v62025-08-01

Predicted Aligned Error matrix for MED13 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

57.0/ 100

Low

2,174 residues

Confidence breakdown

Very high(≥ 90)19%
Confident(70–90)23%
Low(50–70)7%
Very low(< 50)51%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

intellectual developmental disorder 61
0.75
hereditary disease
0.54
Non-acquired isolated growth hormone deficiency
0.46
isolated growth hormone deficiency type II
0.46
complex neurodevelopmental disorder
0.46
neurodegenerative disease
0.46
neurodevelopmental disorder
0.45
Autistic behavior
0.40
Intellectual disability
0.37
attention deficit-hyperactivity disorder
0.37

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 13

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