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] See more...

Aliases for MED12L Gene

Aliases for MED12L Gene

  • Mediator Complex Subunit 12L 2 3 5
  • Mediator Of RNA Polymerase II Transcription Subunit 12-Like Protein 3 4
  • Trinucleotide Repeat-Containing Gene 11 Protein-Like 3 4
  • Thyroid Hormone Receptor-Associated-Like Protein 3 4
  • Mediator Complex Subunit 12 Like 2 3
  • 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 Complex Subunit 12-Like Protein 4
  • No Opposite Paired Repeat Protein 3
  • 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 12L) is a Protein Coding gene. Diseases associated with MED12L include Alacrima, Achalasia, And Mental Retardation Syndrome and Usher Syndrome. Among its related pathways are Thyroid hormone signaling pathway. Gene Ontology (GO) annotations related to this gene include transcription factor binding. An important paralog of this gene is MED12.

UniProtKB/Swiss-Prot Summary 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).

Additional gene information for MED12L Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MED12L Gene

Genomics for MED12L Gene

GeneHancer (GH) Regulatory Elements for MED12L Gene

Promoters and enhancers for MED12L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J151084 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.6 645 3.4 HNRNPK ZNF217 CTCF NRF1 SP1 PHF8 ZFX ZIC2 ZBTB10 ZNF423 MED12L EIF2A lnc-SELENOT-5
GH03J151135 Enhancer 1.1 Ensembl ENCODE dbSUPER 12.1 +49.5 49536 3.2 ZIC2 RFX1 HES1 NCOR1 ZNF282 PBX2 TAL1 ZBTB48 HDAC2 ZNF189 MED12L AADACL2 lnc-SELENOT-5
GH03J151145 Enhancer 0.9 ENCODE dbSUPER 12.3 +60.5 60542 1.7 CTCF JUND REST RAD21 TRIM22 SMC3 MXI1 DEK GATA3 CEBPG MED12L P2RY14 MINDY4B ENSG00000243273 CLRN1 CLRN1-AS1 RF00994-691 lnc-SELENOT-5
GH03J150268 Enhancer 1 Ensembl ENCODE 9.9 -815.4 -815373 4.5 ZNF217 CUX1 ATF2 FOXA2 NR2F2 CREB1 USF1 CEBPG ZBTB33 JUND MED12L lnc-PFN2-5 lnc-TSC22D2-6 LINC01214
GH03J151155 Enhancer 0.8 Ensembl ENCODE 11.9 +70.4 70402 1.9 CTCF SMC3 RAD21 RXRA ARID3A MIXL1 ZNF24 PPARG ZNF143 EZH2 MED12L P2RY14 RF00994-691 hsa-miR-1273e-049
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MED12L on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MED12L

Top Transcription factor binding sites by QIAGEN in the MED12L gene promoter:
  • CP2
  • Elk-1
  • Evi-1
  • LCR-F1
  • Pax-5
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2
  • Zic1

Genomic Locations for MED12L Gene

Genomic Locations for MED12L Gene
chr3:151,085,665-151,437,072
(GRCh38/hg38)
Size:
351,408 bases
Orientation:
Plus strand
chr3:150,803,484-151,154,860
(GRCh37/hg19)
Size:
351,377 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 Lys1851
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MED12L Gene

Domains & Families for MED12L Gene

Gene Families for MED12L Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MED12L Gene

Suggested Antigen Peptide Sequences for MED12L Gene

GenScript: Design optimal peptide antigens:
  • MED12L protein (B7ZMI1_HUMAN)
  • Trinucleotide repeat-containing gene 11 protein-like (MD12L_HUMAN)

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).

Phenotypes From GWAS Catalog for MED12L Gene

Gene Ontology (GO) - Molecular Function for MED12L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity IBA 21873635
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

Clone 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
mitochondrion 1
endoplasmic reticulum 1
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MED12L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0016592 mediator complex IBA,IEA 21873635
genes like me logo Genes that share ontologies with MED12L: view

Pathways & Interactions for MED12L Gene

PathCards logo

SuperPathways 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:0006357 regulation of transcription by RNA polymerase II IBA,IEA 21873635
GO:1903508 positive regulation of nucleic acid-templated transcription 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

mRNA/cDNA for MED12L Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone 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

Expression for MED12L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for MED12L Gene



Protein tissue co-expression partners for MED12L Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 99.66 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MED12L 31 30
  • 92.64 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 92 (a)
OneToMany
-- 31
  • 89 (a)
OneToMany
-- 31
  • 88 (a)
OneToMany
-- 31
  • 85 (a)
OneToMany
-- 31
  • 78 (a)
OneToMany
cow
(Bos Taurus)
Mammalia MED12L 31 30
  • 91.59 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Med12l 17 31 30
  • 88.72 (n)
oppossum
(Monodelphis domestica)
Mammalia MED12L 31
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves MED12L 31 30
  • 78.91 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MED12L 31
  • 78 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002523 30
  • 51.4 (n)
fruit fly
(Drosophila melanogaster)
Insecta kto 31 30
  • 50.62 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dpy-22 31
  • 10 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
OneToMany
Cin.569 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.569 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for MED12L: view image

Paralogs for MED12L Gene

Paralogs for MED12L Gene

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

  • MD12L_HUMAN
  • B7ZMI1_HUMAN
  • F8WAE6_HUMAN
  • H7C4I9_HUMAN
genes like me logo Genes that share paralogs with MED12L: view

Variants for MED12L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MED12L Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
627323 Likely Pathogenic: Abnormal platelet function 151,338,326(+) T/C MISSENSE_VARIANT,INTRON_VARIANT
627326 Uncertain Significance: Impaired ADP-induced platelet aggregation 151,338,322(+) C/T MISSENSE_VARIANT,INTRON_VARIANT
627344 Uncertain Significance: Impaired ADP-induced platelet aggregation 151,338,246(+) A/C MISSENSE_VARIANT,INTRON_VARIANT
709196 Benign: not provided 151,199,372(+) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
729312 Benign: not provided 151,213,415(+) G/A MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for MED12L Gene

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)

Additional Variant Information 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

MalaCards: The human disease database

(2) MalaCards diseases for MED12L Gene - From: ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
alacrima, achalasia, and mental retardation syndrome
  • aamr
usher syndrome
  • retinitis pigmentosa-deafness syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MED12L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MED12L: view

No data available for 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 EM (American journal of human genetics 2001) 2 3 4 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  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 SD … DREAM investigators (Diabetes care 2010) 3 41 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  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 research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 54

Products for MED12L Gene

Sources for MED12L Gene