MED13 - mediator complex subunit 13 Gene

Also Known as MRD61; ARC250; THRAP1; DRIP250; HSPC221; TRAP240

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9969

About MED13

Cytogenetic location: 17q23.2 Genomic coordinates (GRCh38): 17:61,942,605-62,065,278 (from NCBI)

This gene has 6 transcripts (splice variants), 283 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 10.6), testis (RPKM 10.3) and 25 other tissues.

Summary

This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. The product of this gene is proposed to form a sub-complex with MED12, cyclin C, and CDK8 that can negatively regulate transactivation by mediator. [provided by RefSeq, Jul 2008]

MED13 Products (1)

mRNA Protein Name
NM_005121.3 NP_005112.2 mediator of RNA polymerase II transcription subunit 13
Molecular Function GO Annotation Evidence References Source
enables nuclear thyroid hormone receptor binding IDA
IDA: Inferred from direct assay
10198638 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12421765 GOA
enables transcription coactivator activity IDA
IDA: Inferred from direct assay
12218053 GOA
enables transcription coregulator activity IDA
IDA: Inferred from direct assay
10198638 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
10198638 GOA
involved in positive regulation of transcription initiation by RNA polymerase II IDA
IDA: Inferred from direct assay
12218053 GOA
Cellular Component GO Annotation Evidence References Source
part of CKM complex IPI
IPI: Inferred from physical interaction
19047373 GOA
part of mediator complex IDA
IDA: Inferred from direct assay
10198638 GOA
located in nucleus IDA
IDA: Inferred from direct assay
10235267 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MED13 Protein Structure

Med13_N

Med13_N: Mediator complex subunit 13 N-terminal (11 - 384)

Med13_C

Med13_C: Mediator complex subunit 13 C-terminal (1640 - 2165)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2174 a.a.
Protein Preferred Names Protein Names

mediator of RNA polymerase II transcription subunit 13

  • activator-recruited cofactor 250 kDa component

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, Autosomal Dominant 61
  • MRD61

  • Mental Retardation, Autosomal Dominant 61

Non-Specific Syndromic Intellectual Disability
  • Complex Neurodevelopmental Disorder

Opitz-Kaveggia Syndrome
  • Fg Syndrome

  • Fgs1

  • Fgs

  • Keller Syndrome

  • OKS

  • Fg Syndrome 1

  • Fg Syndrome Type 1

  • Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum

  • Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum

  • Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum

Ohdo Syndrome
  • Young Simpson Syndrome

  • Ohdo Blepharophimosis Syndrome

  • Blepharophimosis Syndrome Ohdo Type

  • Blepharophimosis Intellectual Disability Syndromes

  • Bmrs

  • Blepharophimosis-Intellectual Disability Syndrome

  • Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth

  • Sbbys Syndrome

  • Say Barber Biesecker Young-Simpson Syndrome

  • Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type

  • Bmrs, Ohdo Type

  • Blepharophimosis Syndrome, Ohdo Type

  • Ohdo-Madokoro-Sonoda Syndrome

  • Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type

  • Blepharophimosis - Intellectual Disability Syndrome

Attention Deficit-Hyperactivity Disorder
  • Attention Deficit Hyperactivity Disorder

  • ADHD

  • Attention Deficit Disorder

  • Attention Deficit-Hyperactivity Disorder, Susceptibility To

  • Attention Deficit Disorder With Hyperactivity

  • Hyperkinetic Disorder

  • Hyperactivity Of Childhood

  • Attention-Deficit/Hyperactivity Disorder

  • Add

  • Addh

  • Attention Deficit

  • Attention Deficit Disorder Of Childhood With Hyperactivity

  • Attention Deficit Disorder With Hyperactivity Syndrome

  • Hyperkinetic Syndrome

  • Attention-Deficit Hyperactivity Disorder

  • Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

  • Disturbance Of Activity And Attention

  • Disorder Of Activity And Attention

  • Adhd - [Attention Deficit Hyperactivity Disorder]

  • Hyperkinetic Disorders

  • Disorder Of Activity And Attention With Hyperkinesia

  • Attention Deficit Syndrome With Hyperactivity

Autism Spectrum Disorder
  • Asd

  • Autism Spectrum Disorders

  • Autistic Continuum

  • Pervasive Developmental Disorder

  • Pervasive Development Disorder

  • Autistic Behavior

  • Autistic Disorder

  • Autistic

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Childhood Autism

  • Kanner Syndrome

  • Pervasive Developmental Delay Nos

  • Pervasive Developmental Disorder, Not Otherwise Specified

Autism
  • Autistic Disorder

  • Autism Susceptibility 1

  • Childhood Autism

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Kanner'S Syndrome

  • Autistic

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus MED13 VGNC VGNC:31350
Canis familiaris MED13 VGNC VGNC:43122
Rattus norvegicus MED13 RGD RGD:1304829
Macaca mulatta MED13 VGNC VGNC:74554
Mus musculus MED13 MGD MGI:3029632
Felis catus MED13 VGNC VGNC:63433