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

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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 6p21.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (41905354..41921139, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (41733914..41749699, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (41873092..41888877, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues 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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Our analyses revealed no apparent differences in protein expression profiles of SRBs in central and peripheral regions of human donor tissues, indicating that carotenoid-binding proteins rather than transporters are likely to mediate selective accumulation of carotenoids into the macula.
Title: All three human scavenger receptor class B proteins can bind and transport all three macular xanthophyll carotenoids.
We identified the first and homozygous mutation (p.Gly114Ala) in the Mediator subunit 20 gene (MED20) in siblings presenting with infantile-onset spasticity and childhood-onset dystonia, progressive basal ganglia degeneration, and brain atrophy
Title: MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

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

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

D11S3114 (e-PCR)
- UniSTS:152207

A002F15 (e-PCR)
- UniSTS:56523

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

Process	Evidence Code	Pubs
involved_in DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in RNA polymerase II preinitiation complex assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of transcription elongation by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of transcription initiation by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed

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

Go to the top of the page Help

Preferred Names: mediator of RNA polymerase II transcription subunit 20

Names: Trf (TATA binding protein-related factor)-proximal homolog

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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

NG_042059.1 RefSeqGene

Range

5009..20794

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001305455.2 → NP_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:1 → 136

Med20; TATA-binding related factor (TRF) of subunit 20 of Mediator complex
NM_001305456.2 → NP_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:1 → 136

Med20; TATA-binding related factor (TRF) of subunit 20 of Mediator complex
NM_001305457.2 → NP_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:1 → 115

Med20; TATA-binding related factor (TRF) of subunit 20 of Mediator complex
NM_004275.5 → NP_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:1 → 198

Med20; TATA-binding related factor (TRF) of subunit 20 of Mediator complex

RNA

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