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Aliases for MED13L Gene

Aliases for MED13L Gene

  • Mediator Complex Subunit 13-Like 2 3 4
  • PROSIT240 3 4 6
  • TRAP240L 3 4 6
  • THRAP2 3 4 6
  • Thyroid Hormone Receptor-Associated Protein Complex 240 KDa Component-Like 3 4
  • Thyroid Hormone Receptor-Associated Protein 2 3 4
  • KIAA1025 4 6
  • Mediator Of RNA Polymerase II Transcription Subunit 13-Like 3
  • Thyroid Hormone Receptor Associated Protein 2 2

External Ids for MED13L Gene

Previous Symbols for MED13L Gene

  • THRAP2

Summaries for MED13L Gene

Entrez Gene Summary for MED13L Gene

  • The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[provided by RefSeq, Jul 2010]

GeneCards Summary for MED13L Gene

MED13L (Mediator Complex Subunit 13-Like) is a Protein Coding gene. Diseases associated with MED13L include transposition of the great arteries and congenitally uncorrected transposition of the great arteries. Among its related pathways are L1CAM interactions and Metabolism. GO annotations related to this gene include RNA polymerase II transcription cofactor activity. An important paralog of this gene is MED13.

UniProtKB/Swiss-Prot for MED13L Gene

  • 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. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MED13L Gene

Genomics for MED13L Gene

Genomic Location for MED13L Gene

Start:
115,953,872 bp from pter
End:
116,277,338 bp from pter
Size:
323,467 bases
Orientation:
Minus strand

Genomic View for MED13L Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MED13L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MED13L Gene

No data available for Regulatory Elements for MED13L Gene

Proteins for MED13L Gene

  • Protein details for MED13L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q71F56-MD13L_HUMAN
    Recommended name:
    Mediator of RNA polymerase II transcription subunit 13-like
    Protein Accession:
    Q71F56
    Secondary Accessions:
    • A1L469
    • Q68DN4
    • Q9H8C0
    • Q9NSY9
    • Q9UFD8
    • Q9UPX5

    Protein attributes for MED13L Gene

    Size:
    2210 amino acids
    Molecular mass:
    242602 Da
    Quaternary structure:
    • Component of the Mediator complex, which is 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.
    SequenceCaution:
    • Sequence=BAB14697.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for MED13L Gene

Proteomics data for MED13L Gene at MOPED

Post-translational modifications for MED13L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MED13L Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MED13L Gene

Domains for MED13L Gene

Protein Domains for MED13L Gene

UniProtKB/Swiss-Prot:

MD13L_HUMAN
Family:
  • Belongs to the Mediator complex subunit 13 family.:
    • Q71F56
genes like me logo Genes that share domains with MED13L: view

No data available for Gene Families for MED13L Gene

Function for MED13L Gene

Molecular function for MED13L Gene

UniProtKB/Swiss-Prot Function: 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. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway

Gene Ontology (GO) - Molecular Function for MED13L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001104 RNA polymerase II transcription cofactor activity IEA --
genes like me logo Genes that share ontologies with MED13L: view
genes like me logo Genes that share phenotypes with MED13L: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for MED13L Gene

Localization for MED13L Gene

Subcellular locations from UniProtKB/Swiss-Prot for MED13L Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MED13L Gene COMPARTMENTS Subcellular localization image for MED13L gene
Compartment Confidence
nucleus 4
cytosol 2
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MED13L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016592 mediator complex IEA --
genes like me logo Genes that share ontologies with MED13L: view

Pathways for MED13L Gene

genes like me logo Genes that share pathways with MED13L: view

Gene Ontology (GO) - Biological Process for MED13L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with MED13L: view

Transcripts for MED13L Gene

Unigene Clusters for MED13L Gene

Mediator complex subunit 13-like:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MED13L Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b · 23c ·
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

ExUns: 23d ^ 24a · 24b · 24c ^ 25a · 25b · 25c ^ 26a · 26b · 26c ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32
SP1: - - - - -
SP2: - - -
SP3:
SP4:
SP5: -
SP6: -
SP7: -
SP8:

Relevant External Links for MED13L Gene

GeneLoc Exon Structure for
MED13L
ECgene alternative splicing isoforms for
MED13L

Expression for MED13L Gene

mRNA expression in normal human tissues for MED13L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MED13L Gene

SOURCE GeneReport for Unigene cluster for MED13L Gene Hs.603766

mRNA Expression by UniProt/SwissProt for MED13L Gene

Q71F56-MD13L_HUMAN
Tissue specificity: Highly expressed in brain (cerebellum), heart (aorta), skeletal muscle, kidney, placenta and peripheral blood leukocytes. Highly expressed in fetal brain.
genes like me logo Genes that share expressions with MED13L: view

Orthologs for MED13L Gene

This gene was present in the common ancestor of animals.

Orthologs for MED13L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MED13L 36
  • 99.7 (n)
  • 99.77 (a)
MED13L 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MED13L 36
  • 92.6 (n)
  • 96.51 (a)
MED13L 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MED13L 36
  • 93.52 (n)
  • 96.44 (a)
MED13L 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Med13l 36
  • 87.81 (n)
  • 92.51 (a)
Med13l 16
Med13l 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MED13L 37
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MED13L 37
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Med13l 36
  • 86.73 (n)
  • 91.68 (a)
chicken
(Gallus gallus)
Aves MED13L 36
  • 80.42 (n)
  • 86.8 (a)
MED13L 37
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MED13L 37
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia med13l 36
  • 66.84 (n)
  • 69.81 (a)
fruit fly
(Drosophila melanogaster)
Insecta skd 37
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea let-19 37
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 39 (a)
OneToMany
Species with no ortholog for MED13L:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for MED13L Gene

ENSEMBL:
Gene Tree for MED13L (if available)
TreeFam:
Gene Tree for MED13L (if available)

Paralogs for MED13L Gene

Paralogs for MED13L Gene

Selected SIMAP similar genes for MED13L Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with MED13L: view

Variants for MED13L Gene

Sequence variations from dbSNP and Humsavar for MED13L Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs1043047 -- 115,959,338(-) CAATT(C/T)TAAGC utr-variant-3-prime
rs1043048 -- 115,959,331(-) AAGCa(A/G)aaaaa utr-variant-3-prime
rs1043049 -- 115,959,325(-) aaaaa(A/G)aaaaa utr-variant-3-prime
rs1043050 -- 115,959,316(-) aaaaa(A/C)acaaa utr-variant-3-prime
rs1043051 -- 115,959,314(-) aaaca(A/C)aaaaa utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for MED13L Gene

Variant ID Type Subtype PubMed ID
dgv1495n71 CNV Gain 21882294
nsv832522 CNV Loss 17160897
esv29009 CNV Loss 19812545
nsv52565 CNV Insertion 16902084
esv2677842 CNV Deletion 23128226
nsv826519 CNV Gain 20364138
esv21461 CNV Loss 19812545

Relevant External Links for MED13L Gene

HapMap Linkage Disequilibrium report
MED13L
Human Gene Mutation Database (HGMD)
MED13L

Disorders for MED13L Gene

(1) OMIM Diseases for MED13L Gene (608771)

UniProtKB/Swiss-Prot

MD13L_HUMAN
  • Transposition of the great arteries dextro-looped 1 (DTGA1) [MIM:608808]: A congenital heart defect consisting of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. The presence or absence of associated cardiac anomalies defines the clinical presentation and surgical management of patients with transposition of the great arteries. {ECO:0000269 PubMed:14638541}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving MED13L is found in a patient with transposition of the great arteries, dextro-looped and mental retardation. Translocation t(12;17)(q24.1;q21).

(2) Novoseek inferred disease relationships for MED13L Gene

Disease -log(P) Hits PubMed IDs
heart defects congenital 51 2
mental retardation 45.3 1

Relevant External Links for MED13L

Genetic Association Database (GAD)
MED13L
Human Genome Epidemiology (HuGE) Navigator
MED13L
genes like me logo Genes that share disorders with MED13L: view

Publications for MED13L Gene

  1. Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). (PMID: 14638541) Muncke N. … Rappold G. (Circulation 2003) 3 4 23
  2. cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2. (PMID: 15145061) Musante L. … Kalscheuer V.M. (Gene 2004) 3 4 23
  3. A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology. (PMID: 15175163) Sato S. … Conaway R.C. (Mol. Cell 2004) 3 4 23
  4. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10470851) Kikuno R. … Ohara O. (DNA Res. 1999) 3 4
  5. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D. … Nagase T. (DNA Res. 2002) 3 4

Products for MED13L Gene

Sources for MED13L Gene

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