MED12

Chr Xq13.1

mediator complex subunit 12

Aliases:: CAGH45, HOPA, OPA1, TRAP230, KIAA0192
MANE:: ENST00000374080.8

OMIM: 300188 ↗NCBI: 9968 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

MED12 · Q93074

v62025-08-01

Predicted Aligned Error matrix for MED12 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.1/ 100

Low

2,177 residues

Confidence breakdown

Very high(≥ 90)20%
Confident(70–90)33%
Low(50–70)13%
Very low(< 50)34%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Arthrogryposis
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Clefting
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Non-syndromic familial congenital anorectal malformations
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Retinal disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

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Disease associations (Open Targets)

FG syndrome 1
0.78
Blepharophimosis-intellectual disability syndrome, MKB type
0.77
cholestasis-pigmentary retinopathy-cleft palate syndrome
0.76
X-linked intellectual disability with marfanoid habitus
0.76
FG syndrome
0.74
blepharophimosis - intellectual disability syndrome, MKB type
0.71
MED12-related intellectual disability syndrome
0.59
familial thoracic aortic aneurysm and aortic dissection
0.52
Rare disease with thoracic aortic aneurysm and aortic dissection
0.51
neurodegenerative disease
0.50

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

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 pre-initiation 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