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

    Gene ID: 23389, updated on 2-Nov-2024

    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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (115958576..116277693, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (115939568..116258754, complement)
    RS_2024_09 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 ReSE screen-validated silencer GRCh37_chr12:116237066-116237280 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:116247500-116248699 Neighboring gene long intergenic non-protein coding RNA 2463 Neighboring gene small nucleolar RNA SNORD56 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:116306786-116307286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:116307287-116307787 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:116308592-116309122 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:116309123-116309651 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:116329236-116329946 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:116399381-116399880 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:116435821-116436322 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:116436323-116436822 Neighboring gene RNA, U6 small nuclear 1188, pseudogene Neighboring gene Sharpr-MPRA regulatory region 5057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:116569309-116569810 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:116569811-116570310 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 12:116580291 Neighboring gene NANOG hESC enhancer GRCh37_chr12:116591702-116592247 Neighboring gene Sharpr-MPRA regulatory region 4680 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 18 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 12:116675052 Neighboring gene microRNA 620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4899 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4900 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 12:116744946 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7092 Neighboring gene uncharacterized LOC105370005 Neighboring gene Sharpr-MPRA regulatory region 4817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4901 Neighboring gene CRISPRi-validated cis-regulatory element chr12.3954 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:116806721-116807222 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:116820714-116821390 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:116864663-116865210 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:116865211-116865757 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:116865758-116866304 Neighboring gene microRNA 4472-2

    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 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. Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. Cafiero C, et al. Eur J Hum Genet, 2015 Nov. PMID 25712080, Free PMC Article
    2. Further confirmation of the MED13L haploinsufficiency syndrome. van Haelst MM, et al. Eur J Hum Genet, 2015 Jan. PMID 24781760, Free PMC Article
    3. 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
    4. 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
    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 (64) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome.
      Title: Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome.
    2. Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome.
      Title: Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome.
    3. MED13L integrates Mediator-regulated epigenetic control into lung cancer radiosensitivity.
      Title: MED13L integrates Mediator-regulated epigenetic control into lung cancer radiosensitivity.
    4. 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.
    5. 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.
    6. 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.
    7. 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?
    8. 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.
    9. Heterozygous MED13L variants cause transposition of the great arterie.
      Title: Redefining the MED13L syndrome.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    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
    		not available

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2023-08-08)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2023-08-08)

    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)

    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 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
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    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
      A1L469, Q68DN4, Q71F56, Q9H8C0, Q9NSY9, Q9UFD8, Q9UPX5
      UniProtKB/TrEMBL
      A0A3B3IRX3
      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_2024_08

    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

      UniProtKB/TrEMBL
      A0A3B3IRX3

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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