1. Gene
  2. MED13 - mediator complex subunit 13 Gene

MED13 - mediator complex subunit 13 Gene

Homo sapiens

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

Gene ID: 9969 | Gene type: protein coding

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

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)

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  • 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