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MED13L mediator complex subunit 13L [ Homo sapiens (human) ]

Gene ID: 23389, updated on 21-Mar-2023

Summary

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Official Symbol
MED13Lprovided by HGNC
Official Full Name
mediator complex subunit 13Lprovided by HGNC
Primary source
HGNC:HGNC:22962
See related
Ensembl:ENSG00000123066 MIM:608771; AllianceGenome:HGNC:22962
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MRFACD; THRAP2; TRAP240L; PROSIT240
Summary
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]
Expression
Ubiquitous expression in bone marrow (RPKM 23.0), ovary (RPKM 14.7) and 25 other tissues See more
Orthologs
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Genomic context

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See MED13L in Genome Data Viewer
Location:
12q24.21
Exon count:
35
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (115958576..116277693, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (115939568..116258754, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (116396381..116715498, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370003 Neighboring gene RNA, 7SL, cytoplasmic 865, pseudogene Neighboring gene long intergenic non-protein coding RNA 2463 Neighboring gene small nucleolar RNA SNORD56 Neighboring gene RNA, U6 small nuclear 1188, pseudogene Neighboring gene Sharpr-MPRA regulatory region 4680 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 18 Neighboring gene microRNA 620 Neighboring gene uncharacterized LOC105370005 Neighboring gene CRISPRi-validated cis-regulatory element chr12.3954

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. MED13L integrates Mediator-regulated epigenetic control into lung cancer radiosensitivity. Zhang N, et al. Theranostics, 2020. PMID 32802198, Free PMC Article
  2. MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. Smol T, et al. Neurogenetics, 2018 May. PMID 29511999
  3. MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. Gordon CT, et al. Am J Med Genet A, 2018 Jan. PMID 29159987
  4. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. Asadollahi R, et al. Eur J Med Genet, 2017 Sep. PMID 28645799
  5. MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. Yamamoto T, et al. Am J Med Genet A, 2017 May. PMID 28371282

See all (53) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MED13L integrates Mediator-regulated epigenetic control into lung cancer radiosensitivity.
    Title: MED13L integrates Mediator-regulated epigenetic control into lung cancer radiosensitivity.
  2. Study ascertains missense variations in MED13L as a cause for MED13L-related intellectual disability and improves the clinical delineation of the condition.
    Title: MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.
  3. Our findings suggest that MED13L-related disorders are a possible differential diagnosis for syndromic PRS.
    Title: MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
  4. MED13L truncating mutation and missense mutation were identified in two patients with facial resemblance to Kleefstra syndrome as a novel differential diagnosis.
    Title: Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
  5. A new syndrome caused by MED13L deleterious variants has been described, which shows similar clinical manifestations including intellectual disability, hypotonia, and other congenital anomalies. In two new cases, one missense variant and one nonsense mutation were found in the MED13L gene.
    Title: De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
  6. Two siblings exhibited an intragenic deletion involving exons 3-14, which led to an in-frame deletion in MED13L. The deletion was inherited from their carrier mother who possessed low frequency mosaicism. The older sister of the siblings showed craniosynostosis; this condition has never been reported in patients with MED13L haploinsufficiency syndrome
    Title: MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.
  7. Heterozygous MED13L variants cause transposition of the great arterie.
    Title: Redefining the MED13L syndrome.
  8. Analysis of genomic data in connection with deep clinical evaluation of patients could elucidate genetic heterogeneity of the MED13L haploinsufficiency phenotype
    Title: Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
  9. A meta-analysis of genome-wide association studies of blood pressure and hypertension in Chinese identified three new loci (CACNA1D, CYP21A2, and MED13L) and a newly discovered variant near SLC4A7.
    Title: Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
  10. Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.
    Title: Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
MedGen: C4225208 OMIM: 616789 GeneReviews: Not available
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Copy number response

Description
Copy number response
Triplosensitivity

Little evidence for dosage pathogenicity (Last evaluated 2015-11-11)

ClinGen Genome Curation PagePubMed
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2015-11-11)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
EBI GWAS Catalog
Meta-analysis of new genome-wide association studies of colorectal cancer risk.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ21627, KIAA1025, DKFZp781D0112

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables transcription coregulator activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of mediator complex IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
mediator of RNA polymerase II transcription subunit 13-like
Names
mediator complex subunit 13 like
thyroid hormone receptor-associated protein 2
thyroid hormone receptor-associated protein complex 240 kDa component-like

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023366.1 RefSeqGene

    Range
    4494..323611
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015335.5 → NP_056150.1  mediator of RNA polymerase II transcription subunit 13-like

    See identical proteins and their annotated locations for NP_056150.1

    Status: REVIEWED

    Source sequence(s)
    AC009321, AC012157, AC060226, AC130895
    Consensus CDS
    CCDS9177.1
    UniProtKB/Swiss-Prot
    Q71F56, Q9UPX5
    Related
    ENSP00000281928.3, ENST00000281928.9
    Conserved Domains (2) summary
    pfam06333
    Location:1678 → 2197
    Med13_C; Mediator complex subunit 13 C-terminal
    pfam11597
    Location:16 → 385
    Med13_N; Mediator complex subunit 13 N-terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    115958576..116277693 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428608.1 → XP_047284564.1  mediator of RNA polymerase II transcription subunit 13-like isoform X4

    Related
    ENST00000648737.1

  2. XM_017019090.2 → XP_016874579.1  mediator of RNA polymerase II transcription subunit 13-like isoform X1

  3. XM_047428607.1 → XP_047284563.1  mediator of RNA polymerase II transcription subunit 13-like isoform X3

  4. XM_047428605.1 → XP_047284561.1  mediator of RNA polymerase II transcription subunit 13-like isoform X2

  5. XM_047428609.1 → XP_047284565.1  mediator of RNA polymerase II transcription subunit 13-like isoform X4

  6. XM_047428610.1 → XP_047284566.1  mediator of RNA polymerase II transcription subunit 13-like isoform X4

  7. XM_047428611.1 → XP_047284567.1  mediator of RNA polymerase II transcription subunit 13-like isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    115939568..116258754 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371575.1 → XP_054227550.1  mediator of RNA polymerase II transcription subunit 13-like isoform X4

  2. XM_054371572.1 → XP_054227547.1  mediator of RNA polymerase II transcription subunit 13-like isoform X1

  3. XM_054371573.1 → XP_054227548.1  mediator of RNA polymerase II transcription subunit 13-like isoform X2

  4. XM_054371574.1 → XP_054227549.1  mediator of RNA polymerase II transcription subunit 13-like isoform X3

  5. XM_054371577.1 → XP_054227552.1  mediator of RNA polymerase II transcription subunit 13-like isoform X4

  6. XM_054371578.1 → XP_054227553.1  mediator of RNA polymerase II transcription subunit 13-like isoform X4

  7. XM_054371576.1 → XP_054227551.1  mediator of RNA polymerase II transcription subunit 13-like isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q71F56.1 GenPept UniProtKB/Swiss-Prot:Q71F56

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