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Aliases for MED13L Gene

Aliases for MED13L Gene

  • Mediator Complex Subunit 13 Like 2 3 5
  • Thyroid Hormone Receptor-Associated Protein Complex 240 KDa Component-Like 3 4
  • Thyroid Hormone Receptor-Associated Protein 2 3 4
  • Mediator Complex Subunit 13-Like 2 4
  • PROSIT240 3 4
  • TRAP240L 3 4
  • THRAP2 3 4
  • Mediator Of RNA Polymerase II Transcription Subunit 13-Like 3
  • Thyroid Hormone Receptor Associated Protein 2 2
  • KIAA1025 4
  • MRFACD 3

External Ids for MED13L Gene

Previous HGNC Symbols for MED13L Gene

  • THRAP2

Previous GeneCards Identifiers for MED13L Gene

  • GC12M114880
  • GC12M116396
  • GC12M113408

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 Mental Retardation And Distinctive Facial Features With Or Without Cardiac Defects and Transposition Of The Great Arteries, Dextro-Looped 1. Among its related pathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). 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.

Additional gene information for MED13L Gene

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

Genomics for MED13L Gene

Regulatory Elements for MED13L Gene

Enhancers for MED13L 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
GH12H116492 1.9 FANTOM5 Ensembl ENCODE dbSUPER 41.9 -217.9 -217893 5 HDGF PKNOX1 ARNT SIN3A ZBTB7B ZNF766 CBX5 ZNF207 FOS MCM3 FBXW8 MED13L ENSG00000258034 FBXO21 LINC00173 MAP1LC3B2 LOC105370007 LOC105370008
GH12H116380 1.9 FANTOM5 Ensembl ENCODE dbSUPER 38.4 -105.9 -105911 6 HDGF FOXA2 ARNT ARID4B SIN3A YY1 ZNF766 CBX5 FOS MCM3 FBXW8 MED13L MAP1LC3B2 ENSG00000258034 ENSG00000258346 PIR48425
GH12H116735 1.4 FANTOM5 ENCODE 46.7 -459.9 -459923 2 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 FBXW8 MED13L ENSG00000258034 RPL36P15 MAP1LC3B2 C12orf49 PIR60746
GH12H116915 1.4 Ensembl ENCODE 36.2 -639.2 -639159 2 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 ZNF2 ZNF416 FOS JUNB FBXW8 MED13L FBXO21 ENSG00000258034 ENSG00000274554
GH12H116121 1.8 FANTOM5 Ensembl ENCODE dbSUPER 26.2 +154.5 154491 3 PKNOX1 ARNT SIN3A FEZF1 ZNF2 ATF7 RUNX3 ZNF202 JUNB REST FBXW8 MAP1LC3B2 MED13L MIR620 ENSG00000258034 GC12M116089 GC12P116137
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MED13L on UCSC Golden Path with GeneCards custom track

Promoters for MED13L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000057940 638 3401 FOXA2 SIN3A FEZF1 YY1 TCF12 GATA2 FOS SP3 NFYC NCOA1

Genomic Location for MED13L Gene

Chromosome:
12
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

Genes around MED13L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MED13L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MED13L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for MED13L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MED13L Gene

Domains & Families for MED13L Gene

Gene Families for MED13L Gene

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

Protein Domains for MED13L Gene

Suggested Antigen Peptide Sequences for MED13L Gene

Graphical View of Domain Structure for InterPro Entry

Q71F56

UniProtKB/Swiss-Prot:

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

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.

Phenotypes From GWAS Catalog for MED13L Gene

Gene Ontology (GO) - Molecular Function for MED13L Gene

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

Human Phenotype Ontology for MED13L Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MED13L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Localization for MED13L Gene

Subcellular locations from UniProtKB/Swiss-Prot for MED13L 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 MED13L gene
Compartment Confidence
nucleus 4
cytosol 2
golgi apparatus 2
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MED13L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0016592 mediator complex IBA,IEA --
genes like me logo Genes that share ontologies with MED13L: view

Pathways & Interactions 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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with MED13L: view

No data available for SIGNOR curated interactions for MED13L Gene

Drugs & Compounds for MED13L Gene

No Compound Related Data Available

Transcripts for MED13L Gene

Unigene Clusters for MED13L Gene

Mediator complex subunit 13-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MED13L
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for MED13L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MED13L Gene

This gene is overexpressed in Platelet (66.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MED13L Gene



Protein tissue co-expression partners for MED13L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MED13L Gene:

MED13L

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.

Evidence on tissue expression from TISSUES for MED13L Gene

  • Nervous system(4.7)
  • Lung(2.4)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MED13L Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • heart
  • heart valve
Abdomen:
  • abdominal wall
  • stomach
Limb:
  • foot
  • lower limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
genes like me logo Genes that share expression patterns with MED13L: view

Primer Products

No data available for mRNA differential expression in normal tissues for MED13L Gene

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 33 34
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia MED13L 33 34
  • 93.52 (n)
cow
(Bos Taurus)
Mammalia MED13L 33 34
  • 92.6 (n)
mouse
(Mus musculus)
Mammalia Med13l 33 16 34
  • 87.81 (n)
rat
(Rattus norvegicus)
Mammalia Med13l 33
  • 86.73 (n)
oppossum
(Monodelphis domestica)
Mammalia MED13L 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MED13L 34
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves MED13L 33 34
  • 80.42 (n)
lizard
(Anolis carolinensis)
Reptilia MED13L 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia med13l 33
  • 66.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta skd 34
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea let-19 34
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
OneToMany
Species where no ortholog for MED13L was found in the sources mined by GeneCards:
  • 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

(1) 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
rs121918333 Pathogenic, Transposition of the great arteries dextro-looped 1 (DTGA1) [MIM:608808] 115,969,097(-) TCTAG(A/G)TGATA reference, missense
rs28940309 Pathogenic, Transposition of the great arteries dextro-looped 1 (DTGA1) [MIM:608808] 116,019,846(-) GAAAG(A/G)AGAAT reference, missense
rs28940310 Pathogenic, Transposition of the great arteries dextro-looped 1 (DTGA1) [MIM:608808] 115,975,287(-) TGCAC(A/G)TAAAA reference, missense
rs1057518262 Pathogenic 115,983,495(-) GATAC(-/C)ACCTA reference, frameshift-variant
rs1057518424 Pathogenic 116,008,420(-) ACTCA(-/A)GAGAG reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
dgv2891n54 CNV loss 21841781
dgv2892n54 CNV gain+loss 21841781
dgv875n106 CNV deletion 24896259
esv21461 CNV loss 19812545
esv2677842 CNV deletion 23128226
esv29009 CNV loss 19812545
esv3580482 CNV loss 25503493
esv3630844 CNV loss 21293372
esv3630845 CNV loss 21293372
esv3630846 CNV loss 21293372
esv3630847 CNV loss 21293372
nsv1070554 CNV deletion 25765185
nsv1119991 CNV deletion 24896259
nsv476833 CNV novel sequence insertion 20440878
nsv52565 CNV insertion 16902084
nsv560308 CNV loss 21841781
nsv560311 CNV loss 21841781
nsv560312 CNV loss 21841781
nsv560313 CNV gain 21841781
nsv826519 CNV gain 20364138
nsv832522 CNV loss 17160897
nsv952488 CNV duplication 24416366
nsv952489 CNV duplication 24416366

Variation tolerance for MED13L Gene

Residual Variation Intolerance Score: 3.32% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.11; 51.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MED13L Gene

Human Gene Mutation Database (HGMD)
MED13L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MED13L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MED13L Gene

Disorders for MED13L Gene

MalaCards: The human disease database

(11) MalaCards diseases for MED13L Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MD13L_HUMAN
  • Mental retardation and distinctive facial features with or without cardiac defects (MRFACD) [MIM:616789]: An autosomal dominant, syndromic form of mental retardation characterized by delayed psychomotor development, profound language impairment, and facial dysmorphism, including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia. There is variable penetrance of cardiac malformations, ranging from no malformations to patent foramen ovale to septal defects and/or transposition of the great arteries. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:24781760, ECO:0000269 PubMed:25167861, ECO:0000269 PubMed:25356899, ECO:0000269 PubMed:25712080, ECO:0000269 PubMed:25758992}. 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). {ECO:0000269 PubMed:14638541}.
  • 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.

Relevant External Links for MED13L

Genetic Association Database (GAD)
MED13L
Human Genome Epidemiology (HuGE) Navigator
MED13L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MED13L
genes like me logo Genes that share disorders with MED13L: view

No data available for Genatlas for MED13L Gene

Publications for MED13L Gene

  1. A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology. (PMID: 15175163) Sato S … Conaway RC (Molecular cell 2004) 3 4 22 60
  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 VM (Gene 2004) 3 4 22 60
  3. 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 22 60
  4. Redefining the MED13L syndrome. (PMID: 25758992) Adegbola A … Kalscheuer VM (European journal of human genetics : EJHG 2015) 3 4 60
  5. Further confirmation of the MED13L haploinsufficiency syndrome. (PMID: 24781760) van Haelst MM … van Haaften G (European journal of human genetics : EJHG 2015) 3 4 60

Products for MED13L Gene

Sources for MED13L Gene

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