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    MED12L mediator complex subunit 12L [ Homo sapiens (human) ]

    Gene ID: 116931, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MED12Lprovided by HGNC
    Official Full Name
    mediator complex subunit 12Lprovided by HGNC
    Primary source
    HGNC:HGNC:16050
    See related
    Ensembl:ENSG00000144893 MIM:611318; AllianceGenome:HGNC:16050
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NOPAR; TRALP; NIZIDS; TNRC11L; TRALPUSH
    Summary
    The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with the basal transcription machinery. [provided by RefSeq, May 2010]
    Expression
    Broad expression in testis (RPKM 2.2), brain (RPKM 1.5) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MED12L in Genome Data Viewer
    Location:
    3q25.1
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (151085664..151436653)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (153836722..154193673)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (150803451..151154441)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:150643693-150644193 Neighboring gene clarin 1 Neighboring gene CLRN1 antisense RNA 1 Neighboring gene uncharacterized LOC124909448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14822 Neighboring gene Sharpr-MPRA regulatory region 19 Neighboring gene Sharpr-MPRA regulatory region 7583 Neighboring gene RNA, 5S ribosomal pseudogene 145 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:150959859-150960456 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:150959259-150959858 Neighboring gene G protein-coupled receptor 171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20700 Neighboring gene purinergic receptor P2Y14 Neighboring gene Sharpr-MPRA regulatory region 3159 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:151033994-151035193 Neighboring gene SET pseudogene 11 Neighboring gene G protein-coupled receptor 87 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20701 Neighboring gene purinergic receptor P2Y13 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:151110665-151111260 Neighboring gene purinergic receptor P2Y12 Neighboring gene Sharpr-MPRA regulatory region 9761 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:151201363-151201864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:151201865-151202364 Neighboring gene immunoglobulin superfamily member 10 Neighboring gene mitochondrial ribosomal protein L42 pseudogene 6 Neighboring gene long intergenic non-protein coding RNA 2066 Neighboring gene microRNA 5186

    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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    Related articles in PubMed

    1. Rare MED12L Variants Are Associated with Susceptibility to Guttate Psoriasis in the Han Chinese Population. Wu K, et al. Dermatology, 2024. PMID 38735287
    2. Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Joensuu T, et al. Am J Hum Genet, 2001 Oct. PMID 11524702, Free PMC Article
    3. Functional screening of FxxLF-like peptide motifs identifies SMARCD1/BAF60a as an androgen receptor cofactor that modulates TMPRSS2 expression. van de Wijngaart DJ, et al. Mol Endocrinol, 2009 Nov. PMID 19762545, Free PMC Article
    4. Gene network analysis in a pediatric cohort identifies novel lung function genes. Ong BA, et al. PLoS One, 2013. PMID 24023788, Free PMC Article
    5. A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. Cai DC, et al. Genes Brain Behav, 2014 Sep. PMID 25130324

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Rare MED12L Variants Are Associated with Susceptibility to Guttate Psoriasis in the Han Chinese Population.
      Title: Rare MED12L Variants Are Associated with Susceptibility to Guttate Psoriasis in the Han Chinese Population.
    2. 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.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    Associated conditions

    Description Tests
    Nizon-Isidor syndrome
    MedGen: C5394350 OMIM: 618872 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
    EBI GWAS Catalog
    Gene network analysis in a pediatric cohort identifies novel lung function genes.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ46288, KIAA1635

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-catenin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of mediator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    mediator of RNA polymerase II transcription subunit 12-like protein
    Names
    mediator complex subunit 12 like
    mediator of RNA polymerase II transcription, subunit 12 homolog-like
    no opposite paired repeat protein
    thyroid hormone receptor-associated-like protein
    trinucleotide repeat-containing gene 11 protein-like

    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.

    Genomic

    1. NG_021244.2 RefSeqGene

      Range
      5002..355991
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001393769.1 → NP_001380698.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC024886, AC078816, AC108726
      Consensus CDS
      CCDS93408.1
      UniProtKB/TrEMBL
      A0A8I5KX78, F8WAE6
      Related
      ENSP00000508695.1, ENST00000687756.1
      Conserved Domains (3) summary
      pfam09497
      Location:106 → 161
      Med12; Transcription mediator complex subunit Med12
      pfam12144
      Location:1837 → 2054
      Med12-PQL; Eukaryotic Mediator 12 catenin-binding domain
      pfam12145
      Location:283 → 765
      Med12-LCEWAV; Eukaryotic Mediator 12 subunit domain

    2. NM_053002.6 → NP_443728.3  mediator of RNA polymerase II transcription subunit 12-like protein isoform 2

      See identical proteins and their annotated locations for NP_443728.3

      Status: VALIDATED

      Source sequence(s)
      AC024886, AC078816, AC108726, AF399708, AK128165
      Consensus CDS
      CCDS33876.1
      UniProtKB/Swiss-Prot
      Q86YW9, Q96PC7, Q96PC8, Q9H9M5, Q9HCD7, Q9UI69
      UniProtKB/TrEMBL
      F8WAE6
      Conserved Domains (3) summary
      pfam09497
      Location:103 → 161
      Med12; Transcription mediator complex subunit Med12
      pfam12144
      Location:1803 → 2016
      Med12-PQL; Eukaryotic Mediator 12 catenin-binding domain
      pfam12145
      Location:283 → 730
      Med12-LCEWAV; Eukaryotic Mediator 12 subunit domain

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      151085664..151436653
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017005676.2 → XP_016861165.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X1

      UniProtKB/TrEMBL
      F8WAE6

    2. XM_017005678.2 → XP_016861167.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X4

      UniProtKB/TrEMBL
      F8WAE6

    3. XM_017005677.2 → XP_016861166.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X2

      UniProtKB/TrEMBL
      F8WAE6

    4. XM_047447405.1 → XP_047303361.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X3

    5. XM_047447406.1 → XP_047303362.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X5

    6. XM_047447409.1 → XP_047303365.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X8

    7. XM_047447408.1 → XP_047303364.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X7

    8. XM_047447410.1 → XP_047303366.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X9

    9. XM_017005680.2 → XP_016861169.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X11

      UniProtKB/TrEMBL
      F8WAE6

    10. XM_047447413.1 → XP_047303369.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X13

    11. XM_047447416.1 → XP_047303372.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X15

    12. XM_047447412.1 → XP_047303368.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X12

    13. XM_047447414.1 → XP_047303370.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X14

    14. XM_017005679.2 → XP_016861168.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X10

      UniProtKB/TrEMBL
      F8WAE6

    15. XM_047447417.1 → XP_047303373.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X16

      Related
      ENSP00000273432.4, ENST00000273432.8

    16. XM_011512394.3 → XP_011510696.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X17

      UniProtKB/TrEMBL
      F8WAE6
      Conserved Domains (2) summary
      pfam09497
      Location:103 → 161
      Med12; Transcription mediator complex subunit Med12
      pfam12145
      Location:283 → 765
      Med12-LCEWAV; Eukaryotic Mediator 12 subunit domain

    17. XM_047447418.1 → XP_047303374.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X18

      Related
      ENSP00000509482.1, ENST00000686666.1

    18. XM_011512399.4 → XP_011510701.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X19

      Conserved Domains (2) summary
      pfam09497
      Location:103 → 161
      Med12; Transcription mediator complex subunit Med12
      pfam12145
      Location:283 → 765
      Med12-LCEWAV; Eukaryotic Mediator 12 subunit domain

    19. XM_047447403.1 → XP_047303359.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X1

    20. XM_047447404.1 → XP_047303360.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X2

    21. XM_047447407.1 → XP_047303363.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X6

      UniProtKB/Swiss-Prot
      Q86YW9, Q96PC7, Q96PC8, Q9H9M5, Q9HCD7, Q9UI69
      Related
      ENSP00000417235.1, ENST00000474524.5

    22. XM_047447411.1 → XP_047303367.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X10

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      153836722..154193673
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345142.1 → XP_054201117.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X1

    2. XM_054345147.1 → XP_054201122.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X4

    3. XM_054345144.1 → XP_054201119.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X2

    4. XM_054345146.1 → XP_054201121.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X3

    5. XM_054345151.1 → XP_054201126.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X8

    6. XM_054345150.1 → XP_054201125.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X7

    7. XM_054345152.1 → XP_054201127.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X9

    8. XM_054345155.1 → XP_054201130.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X11

    9. XM_054345157.1 → XP_054201132.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X13

    10. XM_054345159.1 → XP_054201134.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X15

    11. XM_054345156.1 → XP_054201131.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X12

    12. XM_054345158.1 → XP_054201133.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X14

    13. XM_054345153.1 → XP_054201128.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X10

    14. XM_054345160.1 → XP_054201135.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X16

    15. XM_054345161.1 → XP_054201136.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X17

    16. XM_054345162.1 → XP_054201137.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X18

    17. XM_054345163.1 → XP_054201138.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X19

    18. XM_054345143.1 → XP_054201118.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X1

    19. XM_054345145.1 → XP_054201120.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X2

    20. XM_054345154.1 → XP_054201129.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X10

    21. XM_054345148.1 → XP_054201123.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X5

    22. XM_054345149.1 → XP_054201124.1  mediator of RNA polymerase II transcription subunit 12-like protein isoform X6

      UniProtKB/Swiss-Prot
      Q86YW9, Q96PC7, Q96PC8, Q9H9M5, Q9HCD7, Q9UI69
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86YW9.2 GenPept UniProtKB/Swiss-Prot:Q86YW9

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