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
External Ids for MED13L Gene
- HGNC: 22962
- Entrez Gene: 23389
- Ensembl: ENSG00000123066
- OMIM: 608771
- UniProtKB: Q71F56
Previous HGNC Symbols for MED13L Gene
- THRAP2
Previous GeneCards Identifiers for MED13L Gene
- GC12M114880
- GC12M116396
- GC12M113408
Summaries 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
- Monarch Initiative
- Search for MED13L at DataMed
- Search for MED13L at HumanCyc
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:
-
- 12q24.21 by HGNC
- 12q24.21 by Entrez Gene
- 12q24.21 by Ensembl
MED13L Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for MED13L Gene
Post-translational modifications for MED13L Gene
Other Protein References for MED13L Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Atlas Antibodies Anti-MED13L Antibody
-
Custom Antibody ServicesOriGene Antibodies for MED13L
- Novus Biologicals Antibodies for MED13L
-
Abcam antibodies for MED13L
- Invitrogen Antibodies for MED13L (AFLGC-MED13L)
-
Boster Bio Antibodies for MED13L
Protein Products
- Atlas Antibodies PrEST Antigen MED13L
-
OriGene Purified Proteins for MED13L
- Search Origene for MassSpec and Protein Over-expression Lysates for MED13L
- Origene Custom Protein Services for MED13L
- Novus Biologicals proteins for MED13L
-
Abcam proteins for MED13L
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
- InterPro:
- ProtoNet:
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- Family:
-
- Belongs to the Mediator complex subunit 13 family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003712 | transcription coregulator activity | IBA | 21873635 |
Phenotypes for MED13L Gene
- GenomeRNAi human phenotypes for MED13L:
-
- Decreased cell number
- Decreased NANOG protein expression
- Decreased POU5F1-GFP protein expression
- Decreased OCT4 protein expression
- Decreased viability
- no effect
- Decreased Aire reporter expression
- Increased vaccinia virus (VACV) infection
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Synthetic lethal with Ras
- shRNA abundance <= 50%
- Increased transferrin (TF) endocytosis
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MED13L - Select products 50% OFF >
- * MED13L CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * MED13L CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for MED13L
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MED13L
- genomics-online: gRNA clones - Search for available MED13L gRNA products
- Overview of 58 available MED13L gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for MED13L
miRNA for MED13L Gene
- miRTarBase miRNAs that target MED13L
-
- hsa-mir-590-3p (MIRT016185)
- hsa-mir-98-5p (MIRT027821)
- hsa-mir-93-5p (MIRT028166)
- hsa-mir-615-3p (MIRT039767)
- hsa-mir-18a-3p (MIRT040774)
- hsa-mir-328-3p (MIRT043785)
- hsa-mir-23b-3p (MIRT046247)
- hsa-let-7e-5p (MIRT051444)
- hsa-let-7a-5p (MIRT052519)
- hsa-mir-676-5p (MIRT656349)
- hsa-mir-582-3p (MIRT656350)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for MED13L
- Browse OriGene Inhibitory RNA Products For MED13L
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MED13L
- genomics-online: shRNA clones - Search for available MED13L shRNA products
- Overview of 58 available MED13L gene related products
Clone Products
- Applied Biological Materials (abm): Clones for MED13L - Select products 50% OFF >
- * MED13L as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * MED13L tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for MED13L
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MED13L
- genomics-online: cdna clones - Search for available MED13L CDNA products
- Overview of 58 available MED13L gene related products
- orf clones - Search for available MED13L ORF products
- Overview of 58 available MED13L gene related products
Cell Line Products
-
Horizon Cell Lines for MED13L
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
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 4 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
- Golgi apparatus (2)
- Nucleus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0016592 | mediator complex | IBA,IEA | 21873635 |
Pathways & Interactions for MED13L Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
| 2 | Metabolism |
.40
|
|
| 3 | Thyroid hormone signaling pathway | ||
| 4 | Developmental Biology | ||
Pathways by source for MED13L Gene
7 Reactome pathways for MED13L Gene
1 KEGG pathway for MED13L Gene
Interacting Proteins for MED13L Gene
GPS-Prot Interaction Network for MED13L
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006357 | regulation of transcription by RNA polymerase II | IEA,IBA | 21873635 |
No data available for SIGNOR curated interactions for MED13L Gene
Drugs & Compounds for MED13L Gene
No Compound Related Data Available
Drug Products
- Atlas Antibodies PrEST Antigen MED13L
Transcripts for MED13L Gene
mRNA/cDNA for MED13L Gene
- (1) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (309) Selected AceView cDNA sequences:
- (32) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000281928 14615 bps (ENST00000281928.8)
- ENST00000552023 414 bps (ENST00000552023.2)
- ENST00000648762 3989 bps (ENST00000648762.1)
- ENST00000648379 7496 bps (ENST00000648379.1)
- ENST00000650226 8717 bps (ENST00000650226.1)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MED13L - Select products 50% OFF >
- * MED13L CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * MED13L CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for MED13L
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MED13L
- genomics-online: gRNA clones - Search for available MED13L gRNA products
- Overview of 58 available MED13L gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for MED13L
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for MED13L
- Browse OriGene Inhibitory RNA Products For MED13L
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MED13L
- genomics-online: shRNA clones - Search for available MED13L shRNA products
- Overview of 58 available MED13L gene related products
Clone Products
- Applied Biological Materials (abm): Clones for MED13L - Select products 50% OFF >
- * MED13L as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * MED13L tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for MED13L
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MED13L
- genomics-online: cdna clones - Search for available MED13L CDNA products
- Overview of 58 available MED13L gene related products
- orf clones - Search for available MED13L ORF products
- Overview of 58 available MED13L gene related products
| 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: |
Expression for MED13L Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Gonad (Reproductive System)
- Testis Somatic Cells Primitive Gonad
-
Testis (Reproductive System)
- Testis Somatic Cells Primitive Gonad
- Bone (Muscoskeletal System)
- Inner Cell Mass (Early Embryonic Tissues)
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of MED13L Gene:
MED13LSOURCE GeneReport for Unigene cluster for MED13L Gene:
Hs.603766mRNA 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
Primer Products
-
OriGene qPCR primer pairs for MED13L
- genomics-online: primer clones - Search for available MED13L Primer products
- Overview of 58 available MED13L gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MED13L 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | MED13L 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | MED13L 33 32 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Med13l 17 33 32 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Med13l 32 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | MED13L 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | MED13L 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | MED13L 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | MED13L 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | med13l 32 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | skd 33 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | let-19 33 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
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
Variants 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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MED13L Gene
Disorders for MED13L Gene
(20) MalaCards diseases for MED13L Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mental retardation and distinctive facial features with or without cardiac defects |
|
|
| transposition of the great arteries, dextro-looped 1 |
|
|
| metatarsus adductus |
|
|
| pierre robin syndrome |
|
|
| isolated pierre robin sequence |
|
|
Search MED13L in MalaCards
View complete list of genes associated with diseases
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
No data available for Genatlas for MED13L Gene
Publications for MED13L Gene
- 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
- 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
- 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
- Redefining the MED13L syndrome. (PMID: 25758992) Adegbola A … Kalscheuer VM (European journal of human genetics : EJHG 2015) 3 4 56
- 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
ExternalLinks
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