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

Gene ID: 23389, updated on 3-Apr-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
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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
 

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)

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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_015335.5NP_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

    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

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

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

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

  7. XM_047428611.1XP_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_054371575.1XP_054227550.1  mediator of RNA polymerase II transcription subunit 13-like isoform X4

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

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

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

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

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

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