MED12L

Chr 3q25.1

mediator complex subunit 12L

Aliases:: KIAA1635, TNRC11L, TRALPUSH, TRALP
MANE:: ENST00000687756.1

OMIM: 611318 ↗NCBI: 116931 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

MED12L · Q86YW9

v62025-08-01

Predicted Aligned Error matrix for MED12L — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.6/ 100

Low

2,145 residues

Confidence breakdown

Very high(≥ 90)23%
Confident(70–90)32%
Low(50–70)10%
Very low(< 50)35%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Nizon-Isidor syndrome
0.74
platelet-type bleeding disorder 8
0.52
Intellectual disability
0.48
hereditary disease
0.47
Abnormal bleeding
0.40
Thrombocytopenia
0.40
complex neurodevelopmental disorder
0.37
smoking initiation
0.35
neurodegenerative disease
0.34
Impaired ADP-induced platelet aggregation
0.31

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 12-like protein

May be a 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 (By similarity)