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MED20 mediator complex subunit 20 [ Homo sapiens (human) ]

Gene ID: 9477, updated on 20-Mar-2020

Summary

Official Symbol
MED20provided by HGNC
Official Full Name
mediator complex subunit 20provided by HGNC
Primary source
HGNC:HGNC:16840
See related
Ensembl:ENSG00000124641 MIM:612915
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
SRB2; TRFP; PRO0213
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, by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. A mutation in this gene has been associated with a novel infantile-onset neurodegenerative movement disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
Expression
Ubiquitous expression in placenta (RPKM 6.7), thyroid (RPKM 6.0) and 25 other tissues See more
Orthologs

Genomic context

See MED20 in Genome Data Viewer
Location:
6p21.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (41905353..41921139, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (41873092..41888877, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene prickle planar cell polarity protein 4 Neighboring gene translocase of outer mitochondrial membrane 6 Neighboring gene ubiquitin specific peptidase 49 Neighboring gene Sharpr-MPRA regulatory region 4595 Neighboring gene bystin like Neighboring gene cyclin D3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of mediator complex subunit 20 (MED20) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: USP49

Homology

Clone Names

  • MGC29869, DKFZp586D2223

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-directed 5'-3' RNA polymerase activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin protein ligase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
positive regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
mediator complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mediator complex NAS
Non-traceable Author Statement
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
ubiquitin ligase complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
mediator of RNA polymerase II transcription subunit 20
Names
Trf (TATA binding protein-related factor)-proximal homolog

NCBI Reference Sequences (RefSeq)

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

  1. NG_042059.1 RefSeqGene

    Range
    5009..20794
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001305455.2NP_001292384.1  mediator of RNA polymerase II transcription subunit 20 isoform 2

    See identical proteins and their annotated locations for NP_001292384.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region and uses a downstream in-frame start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1. Both variants 2 and 3 encode the same isoform.
    Source sequence(s)
    BC012618, BC040950
    UniProtKB/Swiss-Prot
    Q9H944
    UniProtKB/TrEMBL
    B3KUJ9
    Conserved Domains (1) summary
    pfam08612
    Location:1136
    Med20; TATA-binding related factor (TRF) of subunit 20 of Mediator complex
  2. NM_001305456.1NP_001292385.1  mediator of RNA polymerase II transcription subunit 20 isoform 2

    See identical proteins and their annotated locations for NP_001292385.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon and contains an alternate exon in the coding region, and uses a downstream in-frame start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1. Both variants 2 and 3 encode the same isoform.
    Source sequence(s)
    AK097385, AL160163, BC012618, BC040950
    UniProtKB/Swiss-Prot
    Q9H944
    UniProtKB/TrEMBL
    B3KUJ9
    Related
    ENST00000467535.5
    Conserved Domains (1) summary
    pfam08612
    Location:1136
    Med20; TATA-binding related factor (TRF) of subunit 20 of Mediator complex
  3. NM_001305457.2NP_001292386.1  mediator of RNA polymerase II transcription subunit 20 isoform 3

    See identical proteins and their annotated locations for NP_001292386.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 3, which has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC012618, BC040950
    Consensus CDS
    CCDS83085.1
    UniProtKB/Swiss-Prot
    Q9H944
    Related
    ENSP00000386816.1, ENST00000409312.5
    Conserved Domains (1) summary
    pfam08612
    Location:1115
    Med20; TATA-binding related factor (TRF) of subunit 20 of Mediator complex
  4. NM_004275.5NP_004266.2  mediator of RNA polymerase II transcription subunit 20 isoform 1

    See identical proteins and their annotated locations for NP_004266.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    BC012618, BC040950
    Consensus CDS
    CCDS4862.1
    UniProtKB/Swiss-Prot
    Q9H944
    Related
    ENSP00000265350.4, ENST00000265350.9
    Conserved Domains (1) summary
    pfam08612
    Location:1198
    Med20; TATA-binding related factor (TRF) of subunit 20 of Mediator complex

RNA

  1. NR_131160.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    BC012618, BC040950

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    41905353..41921139 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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