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    Med12 mediator complex subunit 12 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 679693, updated on 13-Apr-2024

    Summary

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    Official Symbol
    Med12provided by RGD
    Official Full Name
    mediator complex subunit 12provided by RGD
    Primary source
    RGD:1585896
    See related
    Ensembl:ENSRNOG00000003848 AllianceGenome:RGD:1585896
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Contributes to ubiquitin protein ligase activity. Involved in protein ubiquitination. Part of ubiquitin ligase complex. Human ortholog(s) of this gene implicated in FG syndrome; leiomyosarcoma; major depressive disorder; phobic disorder; and syndromic X-linked intellectual disorder Lujan-Fryns-type. Orthologous to human MED12 (mediator complex subunit 12). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in Spleen (RPKM 98.2), Kidney (RPKM 87.2) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Med12 in Genome Data Viewer
    Location:
    Xq22
    Exon count:
    46
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) X NC_086039.1 (70444615..70467780)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) X NC_051356.1 (66404807..66427775)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) X NC_005120.4 (71174653..71197812)

    Chromosome X - NC_086039.1Genomic Context describing neighboring genes Neighboring gene similar to human chromosome X open reading frame 65 Neighboring gene interleukin 2 receptor subunit gamma Neighboring gene neuroligin 3 Neighboring gene gap junction protein, beta 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. Lesca G, et al. Am J Med Genet A, 2013 Dec. PMID 24039113
    2. Mutations in MED12 cause X-linked Ohdo syndrome. Vulto-van Silfhout AT, et al. Am J Hum Genet, 2013 Mar 7. PMID 23395478, Free PMC Article
    3. Mosaic expression of Med12 in female mice leads to exencephaly, spina bifida, and craniorachischisis. Rocha PP, et al. Birth Defects Res A Clin Mol Teratol, 2010 Aug. PMID 20589884
    4. A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome). Rump P, et al. Clin Genet, 2011 Feb. PMID 20507344
    5. The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene. Schwartz CE, et al. J Med Genet, 2007 Jul. PMID 17369503, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables beta-catenin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables chromatin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables nuclear thyroid hormone receptor binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transcription coactivator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription coactivator activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transcription coregulator activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transcription factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    contributes_to ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within Schwann cell development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within Wnt signaling pathway, planar cell polarity pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within axis elongation involved in somitogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within embryonic brain development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within embryonic neurocranium morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within embryonic organ development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within endoderm development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within heart development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within neural tube closure ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within neural tube development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within oligodendrocyte development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of transcription initiation by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within post-anal tail morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within somatic stem cell population maintenance ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within somitogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within spinal cord development ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of CKM complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of mediator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of mediator complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    mediator of RNA polymerase II transcription subunit 12

    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_001193292.2 → NP_001180221.1  mediator of RNA polymerase II transcription subunit 12 isoform 2

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000021
      UniProtKB/TrEMBL
      A0A8I6A1Z4
      Related
      ENSRNOP00000073197.2, ENSRNOT00000090192.2
      Conserved Domains (3) summary
      pfam09497
      Location:103 → 161
      Med12; Transcription mediator complex subunit Med12
      pfam12144
      Location:1822 → 2021
      Med12-PQL; Eukaryotic Mediator 12 catenin-binding domain
      pfam12145
      Location:287 → 758
      Med12-LCEWAV; Eukaryotic Mediator 12 subunit domain

    2. NM_001414735.1 → NP_001401664.1  mediator of RNA polymerase II transcription subunit 12 isoform 1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000021
      UniProtKB/TrEMBL
      A0A096MKF8
      Related
      ENSRNOP00000068498.1, ENSRNOT00000076957.3

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086039.1 Reference GRCr8

      Range
      70444615..70467780
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063280297.1 → XP_063136367.1  mediator of RNA polymerase II transcription subunit 12 isoform X3

    2. XM_063280295.1 → XP_063136365.1  mediator of RNA polymerase II transcription subunit 12 isoform X1

    3. XM_063280298.1 → XP_063136368.1  mediator of RNA polymerase II transcription subunit 12 isoform X4

    4. XM_063280296.1 → XP_063136366.1  mediator of RNA polymerase II transcription subunit 12 isoform X2

    Nucleotide Protein Strain
    Heading Accession and Version

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