MED13L

Chr 12q24.21

mediator complex subunit 13L

Aliases:: KIAA1025, TRAP240L
MANE:: ENST00000281928.9

OMIM: 608771 ↗NCBI: 23389 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

MED13L · Q71F56

v62025-08-01

Predicted Aligned Error matrix for MED13L — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

55.8/ 100

Low

2,210 residues

Confidence breakdown

Very high(≥ 90)16%
Confident(70–90)24%
Low(50–70)8%
Very low(< 50)52%

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
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
COVID-19 research
Unknown
Familial non syndromic congenital heart disease
Primary immunodeficiency or monogenic inflammatory bowel disease
Unknown
Rare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

cardiac anomalies - developmental delay - facial dysmorphism syndrome
0.79
Intellectual disability
0.67
Cardiac anomalies-developmental delay-facial dysmorphism syndrome
0.62
dextro-looped transposition of the great arteries
0.55
hereditary disease
0.55
neurodevelopmental disorder
0.47
cutaneous melanoma
0.44
Global developmental delay
0.41
smoking initiation
0.39
syndromic intellectual disability
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-like

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. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway