MED24 mediator complex subunit 24 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MED24provided by HGNC
Official Full Name: mediator complex subunit 24provided by HGNC
Primary source: HGNC:HGNC:22963
See related: Ensembl:ENSG00000008838 MIM:607000; AllianceGenome:HGNC:22963
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: MED5; CRSP4; ARC100; THRAP4; CRSP100; DRIP100; TRAP100
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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 18.9), brain (RPKM 13.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.1

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (40019104..40054408, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (40882980..40918293, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (38175357..38210661, 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?

this study shows that haplotypes consisting of single nucleotide polymorphisms harboring PSMD3, CSF3 and MED24 genes are associated with asthma in Slovenian patients
Title: Polymorphisms and haplotypes of the chromosome locus 17q12-17q21.1 contribute to adult asthma susceptibility in Slovenian patients.
Study identified significantly white blood cell count (WBC) level associated SNPs of three separate genes GSDMA, MED24, and PSMD3 in European continent (EA) subjects.
Title: Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network.

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple loci are associated with white blood cell phenotypes. EBI GWAS Catalog EBI GWAS CatalogPubMed
The CCND1 c.870G&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma. 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

D17S1179 (e-PCR)
- UniSTS:149780

SHGC-153395 (e-PCR)
- UniSTS:177721

SHGC-147700 (e-PCR)
- UniSTS:175959

L17843 (e-PCR)
- UniSTS:71552

RH66540 (e-PCR)
- UniSTS:37051

SHGC-146145 (e-PCR)
- UniSTS:175039

RH25353 (e-PCR)
- UniSTS:67060

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	IDA Inferred from Direct Assay more info	PubMed
enables transcription coregulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription coregulator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA polymerase II preinitiation complex assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay 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	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription initiation by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription initiation by RNA polymerase II	NAS Non-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

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Preferred Names: mediator of RNA polymerase II transcription subunit 24

Names: CRSP complex subunit 4; activator-recruited cofactor 100 kDa component; cofactor required for Sp1 transcriptional activation subunit 4; cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa; mediator of RNA polymerase II transcription, subunit 24 homolog; thyroid hormone receptor-associated protein 4; thyroid hormone receptor-associated protein complex 100 kDa component; vitamin D3 receptor-interacting protein complex 100 kDa component; vitamin D3 receptor-interacting protein complex component DRIP100

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.

mRNA and Protein(s)

NM_001079518.2 → NP_001072986.1 mediator of RNA polymerase II transcription subunit 24 isoform 2

Status: REVIEWED

Description

Transcript Variant: Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting protein (isoform 2) is shorter than isoform 1. Variants 2 and 3 encode the same protein.

Source sequence(s)

AK022508, BC011375, D50920, DB144359

Consensus CDS

CCDS42315.1

UniProtKB/TrEMBL

B4DSQ6

Related

ENSP00000377685.2, ENST00000394127.6

Conserved Domains (1) summary

pfam11277
Location:1 → 974

Med24_N; Mediator complex subunit 24 N-terminal
NM_001267797.2 → NP_001254726.1 mediator of RNA polymerase II transcription subunit 24 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5_ coding region compared to variant 1. The resulting protein (isoform 2) is shorter than isoform 1. Variants 2 and 3 encode the same protein.

Source sequence(s)

AC090844, AC102799, AK291040

Consensus CDS

CCDS42315.1

UniProtKB/TrEMBL

B4DSQ6

Related

ENSP00000348610.3, ENST00000356271.7

Conserved Domains (1) summary

pfam11277
Location:1 → 974

Med24_N; Mediator complex subunit 24 N-terminal
NM_001330211.2 → NP_001317140.1 mediator of RNA polymerase II transcription subunit 24 isoform 3

Status: REVIEWED

Source sequence(s)

AC090844, AC102799, BU619328

Consensus CDS

CCDS82117.1

UniProtKB/TrEMBL

B4DSQ6, F5GY88

Related

ENSP00000440100.2, ENST00000501516.7

Conserved Domains (1) summary

pfam11277
Location:1 → 1006

Med24_N; Mediator complex subunit 24 N-terminal
NM_014815.4 → NP_055630.2 mediator of RNA polymerase II transcription subunit 24 isoform 1

Status: REVIEWED

Description

Transcript Variant: Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

AF277379, BC011375, D50920, DB144359

Consensus CDS

CCDS11359.1

UniProtKB/Swiss-Prot

A8K4S5, B3KMR9, O75448, Q14143, Q9NNY5

UniProtKB/TrEMBL

B4DSQ6

Related

ENSP00000377686.2, ENST00000394128.7

Conserved Domains (1) summary

pfam11277
Location:1 → 987

Med24_N; Mediator complex subunit 24 N-terminal

RNA

NR_052017.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC090844, AC102799, AK303745

Related

ENST00000535508.6