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

Gene ID: 116931, updated on 2-Nov-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
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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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