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

    Gene ID: 9862, updated on 2-Nov-2024

    Summary

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    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

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    See MED24 in Genome Data Viewer
    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_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904000 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:38148510-38148687 Neighboring gene proteasome 26S subunit, non-ATPase 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38167559-38168498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38171603-38172102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38182900-38183810 Neighboring gene colony stimulating factor 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38191855-38192722 Neighboring gene small nucleolar RNA, C/D box 124 Neighboring gene microRNA 6884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38216829-38217416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38217417-38218004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38218005-38218590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8471 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8473 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38227151-38227756 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38231037-38231892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12123 Neighboring gene thyroid hormone receptor alpha Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38246843-38247468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38247469-38248095 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12125 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12126 Neighboring gene Sharpr-MPRA regulatory region 6187 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:38254986-38256185 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38259215-38260094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38262999-38263628 Neighboring gene nuclear receptor subfamily 1 group D member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38264065-38264599 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:38264600-38265133 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38266388-38267328 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12130 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38270115-38270902 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:38270903-38271688 Neighboring gene uncharacterized LOC124904001 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8476 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8477

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    Multiple loci are associated with white blood cell phenotypes.
    EBI GWAS Catalog
    The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC8748, KIAA0130

    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)

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

      See identical proteins and their annotated locations for NP_001072986.1

      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

    2. NM_001267797.2 → NP_001254726.1  mediator of RNA polymerase II transcription subunit 24 isoform 2

      See identical proteins and their annotated locations for NP_001254726.1

      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

    3. 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

    4. NM_014815.4 → NP_055630.2  mediator of RNA polymerase II transcription subunit 24 isoform 1

      See identical proteins and their annotated locations for NP_055630.2

      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

    1. 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

    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

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      40019104..40054408 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      40882980..40918293 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75448.1 GenPept UniProtKB/Swiss-Prot:O75448

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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