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

Gene ID: 23389, updated on 1-Jun-2020

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
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

Genomic context

See MED13L in Genome Data Viewer
Location:
12q24.21
Exon count:
32
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (115958576..116277693, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (116396381..116714991, 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 RNA, U6 small nuclear 1188, pseudogene Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 18 Neighboring gene uncharacterized LOC107984438 Neighboring gene microRNA 620 Neighboring gene uncharacterized LOC105370005 Neighboring gene CRISPRi-validated cis-regulatory element chr12.3954

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
Mental retardation and distinctive facial features with or without cardiac defects
MedGen: C4225208 OMIM: 616789 GeneReviews: Not available
Compare labs
Transposition of the great arteries, dextro-looped 1
MedGen: C1837341 OMIM: 608808 GeneReviews: Not available
Compare labs

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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21627, KIAA1025, DKFZp781D0112

Gene Ontology Provided by GOA

Function Evidence Code Pubs
transcription coregulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
mediator complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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
    5001..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
    Q71F56
    Related
    ENSP00000281928.3, ENST00000281928.8
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017019090.1XP_016874579.1  mediator of RNA polymerase II transcription subunit 13-like isoform X4

    Related
    ENST00000648737.1
  2. XM_011538081.2XP_011536383.1  mediator of RNA polymerase II transcription subunit 13-like isoform X2

    Conserved Domains (2) summary
    pfam06333
    Location:16772208
    Med13_C; Mediator complex subunit 13 C-terminal
    pfam11597
    Location:16385
    Med13_N; Mediator complex subunit 13 N-terminal
  3. XM_011538080.2XP_011536382.1  mediator of RNA polymerase II transcription subunit 13-like isoform X1

    Related
    ENSP00000496981.1, ENST00000650226.1
    Conserved Domains (2) summary
    pfam06333
    Location:16782209
    Med13_C; Mediator complex subunit 13 C-terminal
    pfam11597
    Location:16385
    Med13_N; Mediator complex subunit 13 N-terminal
  4. XM_011538082.2XP_011536384.1  mediator of RNA polymerase II transcription subunit 13-like isoform X3

    Conserved Domains (2) summary
    pfam06333
    Location:16682199
    Med13_C; Mediator complex subunit 13 C-terminal
    pfam11597
    Location:15375
    Med13_N; Mediator complex subunit 13 N-terminal
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