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    MED22 mediator complex subunit 22 [ Homo sapiens (human) ]

    Gene ID: 6837, updated on 5-May-2024

    Summary

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    Official Symbol
    MED22provided by HGNC
    Official Full Name
    mediator complex subunit 22provided by HGNC
    Primary source
    HGNC:HGNC:11477
    See related
    Ensembl:ENSG00000148297 MIM:185641; AllianceGenome:HGNC:11477
    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
    SRB6; MED24; SURF5; surf-5
    Summary
    This gene encodes a protein component of the mediator complex, which functions in the regulation of transcription by bridging interactions between gene-specific regulatory factors, RNA polymerase II, and general transcription factors. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013]
    Expression
    Ubiquitous expression in ovary (RPKM 8.5), thyroid (RPKM 8.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    9q34.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (133338312..133348131, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (145552239..145562071, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136205149..136214986, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene lipocalin 1 pseudogene 2 Neighboring gene surfeit 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:136202031-136203002 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:136203003-136203973 Neighboring gene ribosomal protein L21 pseudogene 81 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136208670-136209390 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136212559-136213062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136213063-136213564 Neighboring gene Sharpr-MPRA regulatory region 11826 Neighboring gene ribosomal protein L7a Neighboring gene small nucleolar RNA, C/D box 24 Neighboring gene small nucleolar RNA, C/D box 36B

    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
    • 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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    Related articles in PubMed

    1. Tissue-specific processing of the Surf-5 and Surf-4 mRNAs. Garson K, et al. Gene Expr, 1996. PMID 9196076, Free PMC Article
    2. The human homologue of the mouse Surf5 gene encodes multiple alternatively spliced transcripts. Angiolillo A, et al. Gene, 2002 Feb 6. PMID 11891058
    3. Inactivation of mediator complex protein 22 in podocytes results in intracellular vacuole formation, podocyte loss and premature death. Rodriguez PQ, et al. Sci Rep, 2020 Nov 18. PMID 33208756, Free PMC Article
    4. Mediator subunits MED1 and MED24 cooperatively contribute to pubertal mammary gland development and growth of breast carcinoma cells. Hasegawa N, et al. Mol Cell Biol, 2012 Apr. PMID 22331469, Free PMC Article
    5. The human Surfeit locus. Duhig T, et al. Genomics, 1998 Aug 15. PMID 9740673

    See all (57) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Inactivation of mediator complex protein 22 in podocytes results in intracellular vacuole formation, podocyte loss and premature death.
      Title: Inactivation of mediator complex protein 22 in podocytes results in intracellular vacuole formation, podocyte loss and premature death.
    2. functional communications between the MED1 subunit and the MED24-containing submodule that mediate estrogen receptor functions and growth of both normal mammary epithelial cells and breast carcinoma cells.
      Title: Mediator subunits MED1 and MED24 cooperatively contribute to pubertal mammary gland development and growth of breast carcinoma cells.
    3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    5. Hu-Surf5 encodes three different transcripts, Surf-5a, Surf-5b, and Surf-5c, which result from alternative splicing.
      Title: The human homologue of the mouse Surf5 gene encodes multiple alternatively spliced transcripts.
    6. This publication also contains human sequence.
      Title: Surf5: a gene in the tightly clustered mouse surfeit locus is highly conserved and transcribed divergently from the rpL7A (Surf3) gene.
    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
    Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.
    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

    Potential readthrough

    Included gene: SURF6

    Homology

    Clone Names

    • MGC48682

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coregulator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 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 
    Component Evidence Code Pubs
    part_of core mediator complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    		 PubMed 
    part_of mediator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of mediator complex IDA
    Inferred from Direct Assay
    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 22
    Names
    surfeit locus protein 5

    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_133640.5 → NP_598395.1  mediator of RNA polymerase II transcription subunit 22 isoform b

      See identical proteins and their annotated locations for NP_598395.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b) represents the shorter transcript and encodes the longer isoform (b).
      Source sequence(s)
      AJ224359, AL772161, GD160955, HY154869
      Consensus CDS
      CCDS6963.1
      UniProtKB/Swiss-Prot
      B3KW83, B3KWX4, O76072, Q15528, Q5T8U0
      Related
      ENSP00000342343.5, ENST00000343730.10
      Conserved Domains (1) summary
      pfam06179
      Location:20 → 124
      Med22; Surfeit locus protein 5 subunit 22 of Mediator complex

    2. NM_181491.3 → NP_852468.1  mediator of RNA polymerase II transcription subunit 22 isoform c

      See identical proteins and their annotated locations for NP_852468.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (c) differs in the 3' UTR and its transcription extends past a splice site used in variant b, resulting in a distinct 3' coding region. The encoded isoform (c) is shorter and has a distinct C-terminus, compared to isoform b.
      Source sequence(s)
      AL772161, BC024225, HY154869
      Consensus CDS
      CCDS6964.1
      UniProtKB/TrEMBL
      Q5T8T8
      Related
      ENSP00000478773.1, ENST00000610888.4
      Conserved Domains (1) summary
      pfam06179
      Location:20 → 124
      Med22; Surfeit locus protein 5 subunit 22 of Mediator complex

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      133338312..133348131 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_009646201.1 Reference GRCh38.p14 PATCHES

      Range
      164406..174225 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      145552239..145562071 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_006752.4: Suppressed sequence

      Description
      NM_006752.4: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15528.2 GenPept UniProtKB/Swiss-Prot:Q15528

    Gene LinkOut

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

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