MED13 mediator complex subunit 13 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MED13provided by HGNC
Official Full Name: mediator complex subunit 13provided by HGNC
Primary source: HGNC:HGNC:22474
See related: Ensembl:ENSG00000108510 MIM:603808; AllianceGenome:HGNC:22474
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MRD61; ARC250; THRAP1; DRIP250; HSPC221; TRAP240
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]
Expression: Ubiquitous expression in thyroid (RPKM 10.6), testis (RPKM 10.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q23.2

Exon count:: 31

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (61942605..62065278, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (62811562..62934215, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (60019966..60142639, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MED13 and glycolysis are conserved modifiers of alpha-synuclein-associated neurodegeneration.
Title: MED13 and glycolysis are conserved modifiers of α-synuclein-associated neurodegeneration.
Potential roles of mediator Complex Subunit 13 in Cardiac Diseases.
Title: Potential roles of mediator Complex Subunit 13 in Cardiac Diseases.
Could the MED13 mutations manifest as a Kabuki-like syndrome?
Title: Could the MED13 mutations manifest as a Kabuki-like syndrome?
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Title: De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Each of HSPA4 and MED13 mutations were detected in GC.
Title: Frameshift Mutations of HSPA4 and MED13 in Gastric and Colorectal Cancers.
Data suggest that MED13, MED12, CDK8 and cyclin C (CycC) comprise a four-subunit "kinase" module of the Mediator complex that functions as a major ingress of oncogenic and developmental signaling/gene expression in humans. [REVIEW]
Title: Mediator kinase module and human tumorigenesis.
Cardiac overexpression of MED13 in transgenic mice confers a lean phenotype that is associated with increased lipid uptake, beta-oxidation and mitochondrial content in white adipose tissue and liver
Title: MED13-dependent signaling from the heart confers leanness by enhancing metabolism in adipose tissue and liver.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association. (HuGE Navigator)
Title: The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors.
Med12 and Med13 are critical for human CDK8 subcomplex -dependent repression, whereas CDK8 kinase activity is not
Title: The human CDK8 subcomplex is a molecular switch that controls Mediator coactivator function.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Intellectual developmental disorder 61 MedGen: C5231400 OMIM: 618009 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genetic determinants of P wave duration and PR segment. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G32669 (e-PCR)
- UniSTS:117251

RH91848 (e-PCR)
- UniSTS:84001

THRAP1 (e-PCR)
- UniSTS:504637

RH91246 (e-PCR)
- UniSTS:84555

WI-20400 (e-PCR)
- UniSTS:29294

RH118523 (e-PCR)
- UniSTS:137924

D17S1598 (e-PCR)
- UniSTS:153543

A009M23 (e-PCR)
- UniSTS:8397

RH17559 (e-PCR)
- UniSTS:61390

THRAP1__5254 (e-PCR)
- UniSTS:464605

RH79872 (e-PCR)
- UniSTS:92126

SHGC-133090 (e-PCR)
- UniSTS:183030

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables nuclear receptor coactivator activity	NAS Non-traceable Author Statement more info	PubMed
enables nuclear thyroid hormone receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables nuclear vitamin D receptor binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed
enables transcription coregulator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cholesterol homeostasis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info
involved_in positive regulation of transcription initiation by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in triglyceride homeostasis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of CKM complex	IPI Inferred from Physical Interaction more info	PubMed
part_of CKM complex	ISS Inferred from Sequence or Structural Similarity more info
part_of mediator complex	IBA Inferred from Biological aspect of Ancestor more info
part_of mediator complex	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: mediator of RNA polymerase II transcription subunit 13

Names: activator-recruited cofactor 250 kDa component; mediator of RNA polymerase II transcription, subunit 13 homolog; thyroid hormone receptor-associated protein 1; thyroid hormone receptor-associated protein complex 240 kDa component; thyroid hormone receptor-associated protein complex component TRAP240; thyroid hormone receptor-associated protein, 240 kDa subunit; vitamin D3 receptor-interacting protein complex component DRIP250

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_046948.1 RefSeqGene

Range

5034..127707

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005121.3 → NP_005112.2 mediator of RNA polymerase II transcription subunit 13

Status: REVIEWED

Source sequence(s)

AB011165, AC060798, AF117754, BP332524, BQ709424, CN273870

Consensus CDS

CCDS42366.1

UniProtKB/Swiss-Prot

B2RU05, O60334, Q9UHV7

Related

ENSP00000380888.2, ENST00000397786.7

Conserved Domains (2) summary

pfam06333
Location:1640 → 2161

Med13_C; Mediator complex subunit 13 C-terminal

pfam11597
Location:14 → 384

Med13_N; Mediator complex subunit 13 N-terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

61942605..62065278 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011525551.3 → XP_011523853.1 mediator of RNA polymerase II transcription subunit 13 isoform X1

Conserved Domains (2) summary

pfam06333
Location:1640 → 2108

Med13_C; Mediator complex subunit 13 C-terminal

pfam11597
Location:14 → 384

Med13_N; Mediator complex subunit 13 N-terminal
XM_011525553.4 → XP_011523855.1 mediator of RNA polymerase II transcription subunit 13 isoform X3

Conserved Domains (2) summary

pfam06333
Location:1417 → 1938

Med13_C; Mediator complex subunit 13 C-terminal

pfam11597
Location:35 → 161

Med13_N; Mediator complex subunit 13 N-terminal
XM_011525552.3 → XP_011523854.1 mediator of RNA polymerase II transcription subunit 13 isoform X2

Conserved Domains (2) summary

pfam06333
Location:1640 → 1972

Med13_C; Mediator complex subunit 13 C-terminal

pfam11597
Location:14 → 384

Med13_N; Mediator complex subunit 13 N-terminal

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

62811562..62934215 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054318108.1 → XP_054174083.1 mediator of RNA polymerase II transcription subunit 13 isoform X1
XM_054318110.1 → XP_054174085.1 mediator of RNA polymerase II transcription subunit 13 isoform X3
XM_054318109.1 → XP_054174084.1 mediator of RNA polymerase II transcription subunit 13 isoform X2