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

    Gene ID: 9477, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:16840
    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
    NEW
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    Genomic context

    See MED20 in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (41905354..41921139, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (41733914..41749699, complement)
    105.20220307 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41755120-41756119 Neighboring gene Sharpr-MPRA regulatory region 15280 Neighboring gene translocase of outer mitochondrial membrane 6 Neighboring gene ubiquitin specific peptidase 49 Neighboring gene small nucleolar RNA SNORA8 Neighboring gene MPRA-validated peak5805 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41861872-41862386 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:41862979-41863271 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24529 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:41884515-41885714 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41892998-41893498 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41906017-41906832 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41906833-41907648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41908777-41909728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24531 Neighboring gene bystin like Neighboring gene ReSE screen-validated silencer GRCh37_chr6:41928638-41928835 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:41932711-41933221 Neighboring gene cyclin D3 Neighboring gene uncharacterized LOC105375059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24532 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41976875-41977831 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41977832-41978787 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41984389-41984890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24534 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24535 Neighboring gene Sharpr-MPRA regulatory regions 12575 and 14060 Neighboring gene skeletal muscle cis-regulatory module in CCND3 intron Neighboring gene RNA, U6 small nuclear 761, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr6:42007359-42007580 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:42011196-42011696 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24537 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:42013050-42013640 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:42013641-42014230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17197 Neighboring gene H3K27ac hESC enhancers GRCh37_chr6:42017885-42018436 and GRCh37_chr6:42018437-42018988 Neighboring gene Sharpr-MPRA regulatory region 7068 Neighboring gene TATA-box binding protein associated factor 8

    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

    EBI GWAS Catalog

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

    Clone Names

    • MGC29869, DKFZp586D2223

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-directed 5'-3' RNA polymerase activity 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
     
    Component Evidence Code Pubs
    part_of core mediator complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of mediator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of mediator complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    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)

    NEW Try the new Transcript table

    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/TrEMBL
      B3KUJ9
      Conserved Domains (1) summary
      pfam08612
      Location:1136
      Med20; TATA-binding related factor (TRF) of subunit 20 of Mediator complex
    2. NM_001305456.2NP_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/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/TrEMBL
      B7ZBQ3
      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
      B4DE08, O95821, Q5T8J4, Q9H944, Q9Y429
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      41905354..41921139 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      41733914..41749699 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)