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

    Gene ID: 23389, updated on 17-Jun-2024

    Summary

    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
    NEW
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    Genomic context

    See MED13L in Genome Data Viewer
    Location:
    12q24.21
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (115958576..116277693, complement)
    RS_2023_10 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 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Cardiac anomalies - developmental delay - facial dysmorphism syndrome
    MedGen: C4225208 OMIM: 616789 GeneReviews: Not available
    Compare labs

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_015335.5NP_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:16782197
      Med13_C; Mediator complex subunit 13 C-terminal
      pfam11597
      Location:16385
      Med13_N; Mediator complex subunit 13 N-terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_047428608.1XP_047284564.1  mediator of RNA polymerase II transcription subunit 13-like isoform X4

      UniProtKB/TrEMBL
      A0A3B3IRX3
      Related
      ENST00000648737.1
    2. XM_017019090.2XP_016874579.1  mediator of RNA polymerase II transcription subunit 13-like isoform X1

      UniProtKB/TrEMBL
      A0A3B3IRX3
    3. XM_047428607.1XP_047284563.1  mediator of RNA polymerase II transcription subunit 13-like isoform X3

      UniProtKB/TrEMBL
      A0A3B3IRX3
    4. XM_047428605.1XP_047284561.1  mediator of RNA polymerase II transcription subunit 13-like isoform X2

      UniProtKB/TrEMBL
      A0A3B3IRX3
    5. XM_047428609.1XP_047284565.1  mediator of RNA polymerase II transcription subunit 13-like isoform X4

      UniProtKB/TrEMBL
      A0A3B3IRX3
    6. XM_047428610.1XP_047284566.1  mediator of RNA polymerase II transcription subunit 13-like isoform X4

      UniProtKB/TrEMBL
      A0A3B3IRX3
    7. XM_047428611.1XP_047284567.1  mediator of RNA polymerase II transcription subunit 13-like isoform X4

      UniProtKB/TrEMBL
      A0A3B3IRX3

    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_054371575.1XP_054227550.1  mediator of RNA polymerase II transcription subunit 13-like isoform X4

      UniProtKB/TrEMBL
      A0A3B3IRX3
    2. XM_054371572.1XP_054227547.1  mediator of RNA polymerase II transcription subunit 13-like isoform X1

      UniProtKB/TrEMBL
      A0A3B3IRX3
    3. XM_054371573.1XP_054227548.1  mediator of RNA polymerase II transcription subunit 13-like isoform X2

      UniProtKB/TrEMBL
      A0A3B3IRX3
    4. XM_054371574.1XP_054227549.1  mediator of RNA polymerase II transcription subunit 13-like isoform X3

      UniProtKB/TrEMBL
      A0A3B3IRX3
    5. XM_054371577.1XP_054227552.1  mediator of RNA polymerase II transcription subunit 13-like isoform X4

      UniProtKB/TrEMBL
      A0A3B3IRX3
    6. XM_054371578.1XP_054227553.1  mediator of RNA polymerase II transcription subunit 13-like isoform X4

      UniProtKB/TrEMBL
      A0A3B3IRX3
    7. XM_054371576.1XP_054227551.1  mediator of RNA polymerase II transcription subunit 13-like isoform X4

      UniProtKB/TrEMBL
      A0A3B3IRX3