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Aliases for MED12L Gene

Aliases for MED12L Gene

  • Mediator Complex Subunit 12 Like 2 3 5
  • Trinucleotide Repeat-Containing Gene 11 Protein-Like 3 4
  • Thyroid Hormone Receptor-Associated-Like Protein 3 4
  • TRALPUSH 3 4
  • TNRC11L 3 4
  • TRALP 3 4
  • Mediator Of RNA Polymerase II Transcription, Subunit 12 Homolog (S. Cerevisiae)-Like 2
  • Mediator Of RNA Polymerase II Transcription, Subunit 12 Homolog-Like 3
  • Mediator Of RNA Polymerase II Transcription Subunit 12-Like Protein 3
  • Mediator Complex Subunit 12-Like Protein 4
  • No Opposite Paired Repeat Protein 3
  • Mediator Complex Subunit 12-Like 2
  • KIAA1635 4
  • NOPAR 3

External Ids for MED12L Gene

Previous GeneCards Identifiers for MED12L Gene

  • GC03P152287
  • GC03P150803
  • GC03P148177

Summaries for MED12L Gene

Entrez Gene Summary for MED12L Gene

  • 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]

GeneCards Summary for MED12L Gene

MED12L (Mediator Complex Subunit 12 Like) is a Protein Coding gene. Among its related pathways are Thyroid hormone signaling pathway. GO annotations related to this gene include transcription factor binding and RNA polymerase II transcription cofactor activity. An important paralog of this gene is MED12.

UniProtKB/Swiss-Prot for MED12L Gene

  • May be a component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors (By similarity).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MED12L Gene

Genomics for MED12L Gene

Regulatory Elements for MED12L Gene

Enhancers for MED12L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G151145 1.3 Ensembl ENCODE dbSUPER 12.3 +60.5 60542 1.7 RAD21 YY1 SCRT2 ZNF143 FOS DEK ZNF654 ZHX2 CEBPB GATAD2B MED12L P2RY14 MINDY4B ENSG00000243273 CLRN1 CLRN1-AS1 GC03M151148
GH03G150093 1.3 ENCODE dbSUPER 10.3 -991.1 -991131 1.6 HDGF PKNOX1 AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 FOS SNRPCP3 LOC730021 PFN2 ENSG00000242791 ANKUB1 MED12L LOC105374313 RPL32P9
GH03G150925 1.2 FANTOM5 Ensembl ENCODE 10.3 -159.8 -159796 0.9 CTCF ZNF654 KLF1 PKNOX1 RNF2 REST RAD21 CBX8 GATA2 ZNF143 MINDY4B ENSG00000243273 CLRN1 CLRN1-AS1 MED12L P2RY14 ENSG00000260234
GH03G151135 1 ENCODE dbSUPER 12.1 +50.3 50275 1.7 HDAC1 LEF1 PKNOX1 TAL1 FEZF1 BMI1 ZIC2 TCF12 FOXM1 ZBTB48 MED12L AADACL2 GC03M151148
GH03G151209 1.3 Ensembl ENCODE dbSUPER 9.2 +124.9 124876 2.4 ELF3 SOX13 CTCF TFAP4 FOXA2 SAP130 TAF1 ZNF644 ZNF48 RAD21 P2RY14 GPR87 MED12L GPR171 GC03M151222
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MED12L on UCSC Golden Path with GeneCards custom track

Promoters for MED12L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000160199 835 2201 SIN3A ZNF2 ZNF48 ZBTB7B YY1 GLIS2 ZNF263 SP3 ZHX2 REST

Genomic Location for MED12L Gene

Chromosome:
3
Start:
151,085,665 bp from pter
End:
151,437,072 bp from pter
Size:
351,408 bases
Orientation:
Plus strand

Genomic View for MED12L Gene

Genes around MED12L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MED12L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MED12L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MED12L Gene

Proteins for MED12L Gene

  • Protein details for MED12L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86YW9-MD12L_HUMAN
    Recommended name:
    Mediator of RNA polymerase II transcription subunit 12-like protein
    Protein Accession:
    Q86YW9
    Secondary Accessions:
    • Q96PC7
    • Q96PC8
    • Q9H9M5
    • Q9HCD7
    • Q9UI69

    Protein attributes for MED12L Gene

    Size:
    2145 amino acids
    Molecular mass:
    240120 Da
    Quaternary structure:
    • May be a component of the Mediator complex, which is known to be composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP (By similarity).
    SequenceCaution:
    • Sequence=AAF24035.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part and potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAB14198.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for MED12L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MED12L Gene

Post-translational modifications for MED12L Gene

  • Ubiquitination at Lys1150 and posLast=18511851
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MED12L Gene

Domains & Families for MED12L Gene

Gene Families for MED12L Gene

Protein Domains for MED12L Gene

Suggested Antigen Peptide Sequences for MED12L Gene

Graphical View of Domain Structure for InterPro Entry

Q86YW9

UniProtKB/Swiss-Prot:

MD12L_HUMAN :
  • Belongs to the Mediator complex subunit 12 family.
Family:
  • Belongs to the Mediator complex subunit 12 family.
genes like me logo Genes that share domains with MED12L: view

Function for MED12L Gene

Molecular function for MED12L Gene

UniProtKB/Swiss-Prot Function:
May be a component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors (By similarity).

Gene Ontology (GO) - Molecular Function for MED12L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001105 RNA polymerase II transcription coactivator activity IBA --
GO:0008013 beta-catenin binding IEA --
genes like me logo Genes that share ontologies with MED12L: view
genes like me logo Genes that share phenotypes with MED12L: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MED12L Gene

Localization for MED12L Gene

Subcellular locations from UniProtKB/Swiss-Prot for MED12L Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MED12L gene
Compartment Confidence
nucleus 4
plasma membrane 3
cytosol 1

Gene Ontology (GO) - Cellular Components for MED12L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0016592 mediator complex IEA --
genes like me logo Genes that share ontologies with MED12L: view

Pathways & Interactions for MED12L Gene

genes like me logo Genes that share pathways with MED12L: view

Pathways by source for MED12L Gene

1 KEGG pathway for MED12L Gene

Gene Ontology (GO) - Biological Process for MED12L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with MED12L: view

No data available for SIGNOR curated interactions for MED12L Gene

Drugs & Compounds for MED12L Gene

No Compound Related Data Available

Transcripts for MED12L Gene

Unigene Clusters for MED12L Gene

Mediator complex subunit 12-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MED12L Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1:
SP2: -
SP3:
SP4: -

Relevant External Links for MED12L Gene

GeneLoc Exon Structure for
MED12L
ECgene alternative splicing isoforms for
MED12L

Expression for MED12L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MED12L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MED12L Gene

This gene is overexpressed in Plasma (67.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MED12L Gene



Protein tissue co-expression partners for MED12L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MED12L Gene:

MED12L

SOURCE GeneReport for Unigene cluster for MED12L Gene:

Hs.744234

Evidence on tissue expression from TISSUES for MED12L Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with MED12L: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MED12L Gene

Orthologs for MED12L Gene

This gene was present in the common ancestor of animals.

Orthologs for MED12L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MED12L 34 35
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia MED12L 34 35
  • 92.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 92 (a)
OneToMany
-- 35
  • 89 (a)
OneToMany
-- 35
  • 88 (a)
OneToMany
-- 35
  • 85 (a)
OneToMany
-- 35
  • 78 (a)
OneToMany
cow
(Bos Taurus)
Mammalia MED12L 34 35
  • 91.59 (n)
mouse
(Mus musculus)
Mammalia Med12l 34 16 35
  • 88.72 (n)
oppossum
(Monodelphis domestica)
Mammalia MED12L 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves MED12L 34 35
  • 78.91 (n)
lizard
(Anolis carolinensis)
Reptilia MED12L 35
  • 78 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002523 34
  • 51.4 (n)
fruit fly
(Drosophila melanogaster)
Insecta kto 34 35
  • 50.62 (n)
worm
(Caenorhabditis elegans)
Secernentea dpy-22 35
  • 10 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.569 34
Species where no ortholog for MED12L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for MED12L Gene

ENSEMBL:
Gene Tree for MED12L (if available)
TreeFam:
Gene Tree for MED12L (if available)

Paralogs for MED12L Gene

Paralogs for MED12L Gene

(2) SIMAP similar genes for MED12L Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with MED12L: view

Variants for MED12L Gene

Sequence variations from dbSNP and Humsavar for MED12L Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs121917885 Pathogenic 151,338,079(-) TGCCC(A/G)AATTC intron-variant, reference, missense
rs121917886 Pathogenic 151,338,053(-) AAACC(C/T)GGGAT intron-variant, reference, missense
rs6785930 Benign 151,338,828(+) GTGAG(A/G)TTGTC intron-variant, reference, synonymous-codon
rs6809699 Benign 151,338,810(+) GTGTT(A/C)CCAGG intron-variant, reference, synonymous-codon
rs1000012027 -- 151,098,619(+) GGTGT(C/G)TCTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MED12L Gene

Variant ID Type Subtype PubMed ID
esv1169457 CNV deletion 17803354
esv2400186 CNV deletion 18987734
esv2673993 CNV deletion 23128226
esv2726052 CNV deletion 23290073
esv2726053 CNV deletion 23290073
esv2726054 CNV deletion 23290073
esv2726055 CNV deletion 23290073
esv2726056 CNV deletion 23290073
esv2726057 CNV deletion 23290073
esv2726058 CNV deletion 23290073
esv2759188 CNV gain 17122850
esv3304399 CNV mobile element insertion 20981092
esv3309457 CNV mobile element insertion 20981092
esv3395422 CNV insertion 20981092
esv3411028 CNV insertion 20981092
esv3425867 CNV insertion 20981092
esv3562723 CNV deletion 23714750
esv3569057 CNV loss 25503493
esv3575618 CNV gain 25503493
esv3598170 CNV loss 21293372
esv3598173 CNV loss 21293372
esv999811 CNV insertion 20482838
nsv10341 CNV loss 18304495
nsv1136776 CNV deletion 24896259
nsv1148641 CNV duplication 26484159
nsv4063 CNV insertion 18451855
nsv477896 CNV novel sequence insertion 20440878
nsv508960 CNV insertion 20534489
nsv592045 CNV gain 21841781
nsv829756 CNV gain+loss 17160897
nsv829757 CNV loss 17160897
nsv954492 CNV duplication 24416366
nsv979890 CNV duplication 23825009

Variation tolerance for MED12L Gene

Residual Variation Intolerance Score: 0.283% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.35; 85.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MED12L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MED12L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MED12L Gene

Disorders for MED12L Gene

Relevant External Links for MED12L

Genetic Association Database (GAD)
MED12L
Human Genome Epidemiology (HuGE) Navigator
MED12L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MED12L

No disorders were found for MED12L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MED12L Gene

Publications for MED12L Gene

  1. Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. (PMID: 11524702) Joensuu T. … Sankila E.-M. (Am. J. Hum. Genet. 2001) 2 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T. … Ohara O. (DNA Res. 2000) 3 4 64

Products for MED12L Gene

Sources for MED12L Gene

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