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 Ref... See more...

Aliases for MED13L Gene

Aliases for MED13L Gene

  • Mediator Complex Subunit 13L 2 3
  • Mediator Complex Subunit 13 Like 2 3 5
  • Thyroid Hormone Receptor-Associated Protein Complex 240 KDa Component-Like 3 4
  • Mediator Of RNA Polymerase II Transcription Subunit 13-Like 3 4
  • Thyroid Hormone Receptor-Associated Protein 2 3 4
  • PROSIT240 3 4
  • TRAP240L 3 4
  • THRAP2 3 4
  • Thyroid Hormone Receptor Associated Protein 2 2
  • Mediator Complex Subunit 13-Like 4
  • 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 13L) 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 Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Developmental Biology. An important paralog of this gene is MED13.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for MED13L Gene

Genomics for MED13L Gene

GeneHancer (GH) Regulatory Elements for MED13L Gene

Promoters and enhancers for MED13L Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MED13L on UCSC Golden Path with GeneCards custom track

Genomic Locations for MED13L Gene

Genomic Locations for MED13L Gene
chr12:115,953,872-116,277,719
(GRCh38/hg38)
Size:
323,848 bases
Orientation:
Minus strand
chr12:116,395,711-116,715,143
(GRCh37/hg19)
Size:
319,433 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

GenScript: Design optimal peptide antigens:
  • Thyroid hormone receptor-associated protein complex 240 kDa component-like (MD13L_HUMAN)

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:0003712 transcription coregulator activity IBA 21873635
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

Clone Products

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
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1
peroxisome 0

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 21873635
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:0006357 regulation of transcription by RNA polymerase II IEA,IBA 21873635
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

mRNA/cDNA for MED13L Gene

CRISPR Products

Clone Products

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, 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(4.8)
  • Lung(2.4)
  • Heart(2.1)

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
Regions:
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

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 32
  • 99.7 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MED13L 33 32
  • 93.52 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MED13L 33 32
  • 92.6 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Med13l 17 33 32
  • 87.81 (n)
rat
(Rattus norvegicus)
Mammalia Med13l 32
  • 86.73 (n)
oppossum
(Monodelphis domestica)
Mammalia MED13L 33
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MED13L 33
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves MED13L 33 32
  • 80.42 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MED13L 33
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia med13l 32
  • 66.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta skd 33
  • 23 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea let-19 33
  • 15 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MED13L: view image

Paralogs for MED13L Gene

Paralogs for MED13L Gene

(1) SIMAP similar genes for MED13L Gene using alignment to 5 proteins:

  • MD13L_HUMAN
  • F8VRB8_HUMAN
  • H0YHC1_HUMAN
  • H0YIQ7_HUMAN
  • H0YIQ9_HUMAN
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 Variation AA Info Type
rs1029377279 pathogenic, Transposition of the great arteries, dextro-looped 1 116,022,480(-) G/A/T coding_sequence_variant, missense_variant, stop_gained
rs1057518705 pathogenic, Mental retardation and distinctive facial features with or without cardiac defects 115,982,605(-) T/G splice_acceptor_variant
rs1060504701 likely-benign, Transposition of the great arteries, dextro-looped 1 115,982,613(-) G/C intron_variant
rs1060504702 likely-benign, Transposition of the great arteries, dextro-looped 1 116,277,075(-) G/T coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant, upstream_transcript_variant
rs11067880 benign, Transposition of the great arteries, dextro-looped 1 116,022,502(-) A/G coding_sequence_variant, synonymous_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)

Additional Variant Information 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

(20) MalaCards diseases for MED13L Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

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). {ECO:0000269 PubMed:14638541}.
  • 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.

Additional Disease Information for MED13L

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 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 23 56
  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 23 56
  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 23 56
  4. Redefining the MED13L syndrome. (PMID: 25758992) Adegbola A … Kalscheuer VM (European journal of human genetics : EJHG 2015) 3 4 56
  5. Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. (PMID: 25712080) Cafiero C … Zollino M (European journal of human genetics : EJHG 2015) 3 4 56

Products for MED13L Gene

Sources for MED13L Gene