Browse All / Genes / MED13

MED13

mediator complex subunit 13
3 disorders 2 untyped 1 no genetic record 17q23.2 gene with protein product
HGNC:22474MonarchNCBI Gene 9969ENSG00000108510UniProt Q9UHV7OMIM 603808

Previous symbols: THRAP1. Aliases: KIAA0593, TRAP240.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
MED13 Syndrome untyped
Causative
mechanism: CKM hinge anchoring by MED13; CKM occupancy of core Mediator and bidirectional transcriptional control; Disrupted Mediator complex transcriptional regulation; MED13/MED13L paralog redundancy
variant: 17q23.2 800 kb deletion encompassing MED13; MED13 c.2501A>G; MED13 c.2503C>T (p.Pro835Ser); MED13 c.2691del (p.Asp898IlefsTer14); MED13 c.2703T>A (p.Tyr901Ter); MED13 c.4802C>A (p.Ser1601Ter); MED13 c.5377G>T (p.Gly1793*); MED13 c.5641delinsTC (p.R1882Sfs*9) and 1 more
animal model: Mus musculus
dataset: clinicaltrials:NCT01238250; geo:GSE298801
Mediator Complex Neurodevelopmental Disorder untyped
Causative
mechanism: CDK8 Kinase Module Dysfunction; Cortical Neuron Migration and Projection Defects; MED13 Ubiquitination Regulatory Cluster Variants
subtype: MED13
dataset: clinicaltrials:NCT01238250; geo:GSE298801
phenotype: Autism Spectrum Disorder; Congenital Heart Defects; Corpus Callosum Anomalies; Hearing Impairment; Hypotonia; Intellectual Disability; Seizures
scoped to subtype: MED13
MED13L Syndrome no genetic record
mechanism: CKM hinge anchoring by MED13L
dataset: geo:GSE298801
ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen diseaseMOIClassificationdismech entry
complex neurodevelopmental disorder MONDO:0100038 AD Definitive
2022-05-17
 no dismech entry

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.