MED13L

Chr 12

mediator complex subunit 13L

Also known as: MRFACD, PROSIT240, THRAP2, TRAP240L

NCBI Gene: 23389ENSG00000123066UniProt: Q71F56

The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[provided by RefSeq, Jul 2010]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtImpaired intellectual development and distinctive facial features with or without cardiac defects

Clinical highlights

Gene-disease validity (ClinGen)
congenital heart disease · ADLimitednot for standalone diagnostic reporting2 gene-disease associations curated in total
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
24
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.06
LOEUF· LoF intol.
LOF
Mechanism· G2P
📖
GeneReview available — MED13L
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.06LOEUF
pLI 1.000
Z-score 9.01
OE 0.02 (0.01–0.06)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
3.69Z-score
OE missense 0.70 (0.66–0.74)
839 obs / 1198.6 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.02 (0.01–0.06)
0≤0.351.4
Missense OE?0.70 (0.66–0.74)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 2 / 98.5Missense obs/exp: 839 / 1198.6Syn Z: -0.20

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MED13L · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients