Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MED23 Gene

Aliases for MED23 Gene

  • Mediator Complex Subunit 23 2 3 4 5
  • Cofactor Required For Sp1 Transcriptional Activation Subunit 3 3 4
  • Activator-Recruited Cofactor 130 KDa Component 3 4
  • DRIP130 3 4
  • ARC130 3 4
  • CRSP3 3 4
  • SUR2 3 4
  • Cofactor Required For Sp1 Transcriptional Activation, Subunit 3, 130kDa 2
  • Vitamin D3 Receptor-Interacting Protein Complex 130 KDa Component 4
  • Mediator Of RNA Polymerase II Transcription Subunit 23 3
  • Vitamin D3 Receptor Interacting Protein 3
  • 130 KDa Transcriptional Co-Activator 3
  • 133 KDa Transcriptional Co-Activator 3
  • Transcriptional Coactivator CRSP130 4
  • CRSP Complex Subunit 3 4
  • Protein Sur-2 Homolog 4
  • KIAA1216 4
  • CRSP130 3
  • CRSP133 3
  • HSur-2 4
  • MRT18 3
  • SUR-2 3

External Ids for MED23 Gene

Previous HGNC Symbols for MED23 Gene

  • CRSP3

Previous GeneCards Identifiers for MED23 Gene

  • GC06M131937
  • GC06M129476
  • GC06M131895

Summaries for MED23 Gene

Entrez Gene Summary for MED23 Gene

  • The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein also acts as a metastasis suppressor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2012]

GeneCards Summary for MED23 Gene

MED23 (Mediator Complex Subunit 23) is a Protein Coding gene. Diseases associated with MED23 include Mental Retardation, Autosomal Recessive 18 and Autosomal Recessive Non-Syndromic Intellectual Disability. Among its related pathways are Gene Expression and Metabolism. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity.

UniProtKB/Swiss-Prot for MED23 Gene

  • Required for transcriptional activation subsequent to the assembly of the pre-initiation complex (By similarity). Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional pre-initiation complex with RNA polymerase II and the general transcription factors. Required for transcriptional activation by adenovirus E1A protein. Required for ELK1-dependent transcriptional activation in response to activated Ras signaling.

Gene Wiki entry for MED23 Gene

Additional gene information for MED23 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MED23 Gene

Genomics for MED23 Gene

GeneHancer (GH) Regulatory Elements for MED23 Gene

Promoters and enhancers for MED23 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J131627 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 730.3 +0.1 123 2 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 MED23 ENPP3 ARG1 ENPP1
GH06J131629 Enhancer 0.3 FANTOM5 650.7 -1.6 -1602 0.3 GATA3 ENPP3 MED23 RNU4-18P
GH06J132400 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 33.9 -772.9 -772915 2.2 PKNOX1 MZF1 FEZF1 ZNF2 YY1 ZNF335 GLIS2 ZNF366 EGR2 ZNF202 MOXD1 MED23 SNORA33 PIR45153
GH06J132510 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 19.2 -884.5 -884517 4.4 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 STX7 MED23 SNORA33 LOC100421775 ENPP1 VNN2 VNN1 MOXD1
GH06J131807 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 17.4 -179.7 -179743 1.6 ZFP64 ARID4B SIN3A DMAP1 GLI4 ZNF2 SLC30A9 GLIS2 ZNF213 KLF7 ENPP1 MED23 LOC100421775 MIR548H5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MED23 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MED23 gene promoter:
  • FOXO4
  • SRY
  • Sox9
  • AML1a
  • Lmo2
  • FOXI1
  • HFH-3
  • GR-beta
  • GR-alpha
  • GR

Genomic Locations for MED23 Gene

Genomic Locations for MED23 Gene
chr6:131,573,966-131,628,239
(GRCh38/hg38)
Size:
54,274 bases
Orientation:
Minus strand
chr6:131,895,106-131,949,369
(GRCh37/hg19)
Size:
54,264 bases
Orientation:
Minus strand

Genomic View for MED23 Gene

Genes around MED23 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MED23 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MED23 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MED23 Gene

Proteins for MED23 Gene

  • Protein details for MED23 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULK4-MED23_HUMAN
    Recommended name:
    Mediator of RNA polymerase II transcription subunit 23
    Protein Accession:
    Q9ULK4
    Secondary Accessions:
    • B9TX55
    • O95403
    • Q5JWT3
    • Q5JWT4
    • Q6P9H6
    • Q9H0J2
    • Q9NTT9
    • Q9NTU0
    • Q9Y5P7
    • Q9Y667

    Protein attributes for MED23 Gene

    Size:
    1368 amino acids
    Molecular mass:
    156474 Da
    Quaternary structure:
    • Interacts with ELK1 (By similarity). Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. Interacts with CEBPB (when not methylated), CTNNB1, and GLI3. Interacts with the adenovirus E1A protein.
    SequenceCaution:
    • Sequence=AAD12724.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAD31729.1; Type=Frameshift; Positions=945, 950; Evidence={ECO:0000305}; Sequence=BAA86530.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for MED23 Gene

neXtProt entry for MED23 Gene

Post-translational modifications for MED23 Gene

  • Ubiquitination at posLast=10821082, isoforms=2, 3, 4, 5673, posLast=260260, isoforms=2, 3, 4, 5, 6253, and isoforms=2, 3, 4, 5, 6242
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MED23 Gene

Domains & Families for MED23 Gene

Gene Families for MED23 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MED23 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9ULK4

UniProtKB/Swiss-Prot:

MED23_HUMAN :
  • Belongs to the Mediator complex subunit 23 family.
Family:
  • Belongs to the Mediator complex subunit 23 family.
genes like me logo Genes that share domains with MED23: view

Function for MED23 Gene

Molecular function for MED23 Gene

UniProtKB/Swiss-Prot Function:
Required for transcriptional activation subsequent to the assembly of the pre-initiation complex (By similarity). Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional pre-initiation complex with RNA polymerase II and the general transcription factors. Required for transcriptional activation by adenovirus E1A protein. Required for ELK1-dependent transcriptional activation in response to activated Ras signaling.

Phenotypes From GWAS Catalog for MED23 Gene

Gene Ontology (GO) - Molecular Function for MED23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity TAS 9989412
GO:0005515 protein binding IPI 17438371
genes like me logo Genes that share ontologies with MED23: view
genes like me logo Genes that share phenotypes with MED23: view

Human Phenotype Ontology for MED23 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MED23 Gene

MGI Knock Outs for MED23:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MED23 Gene

Localization for MED23 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MED23 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MED23 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MED23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IDA 9989412
genes like me logo Genes that share ontologies with MED23: view

Pathways & Interactions for MED23 Gene

genes like me logo Genes that share pathways with MED23: view

Gene Ontology (GO) - Biological Process for MED23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IDA 9989412
GO:0006357 regulation of transcription by RNA polymerase II TAS 9989412
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
genes like me logo Genes that share ontologies with MED23: view

No data available for SIGNOR curated interactions for MED23 Gene

Drugs & Compounds for MED23 Gene

No Compound Related Data Available

Transcripts for MED23 Gene

Unigene Clusters for MED23 Gene

Mediator complex subunit 23:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MED23 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a ·
SP1: -
SP2: -
SP3:

ExUns: 25b ^ 26a · 26b ^ 27 ^ 28a · 28b
SP1:
SP2:
SP3:

Relevant External Links for MED23 Gene

GeneLoc Exon Structure for
MED23
ECgene alternative splicing isoforms for
MED23

Expression for MED23 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MED23 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MED23 Gene

This gene is overexpressed in Breast (12.3), Kidney (11.2), Skin (8.5), and Cervix (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MED23 Gene



Protein tissue co-expression partners for MED23 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MED23 Gene:

MED23

SOURCE GeneReport for Unigene cluster for MED23 Gene:

Hs.29679

Evidence on tissue expression from TISSUES for MED23 Gene

  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MED23 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • heart
Abdomen:
  • abdominal wall
Limb:
  • foot
  • lower limb
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
genes like me logo Genes that share expression patterns with MED23: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MED23 Gene

Orthologs for MED23 Gene

This gene was present in the common ancestor of animals.

Orthologs for MED23 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MED23 34 33
  • 99.63 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MED23 34
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MED23 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MED23 34 33
  • 93.1 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MED23 34 33
  • 92.3 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Med23 16 34 33
  • 87.95 (n)
rat
(Rattus norvegicus)
Mammalia Med23 33
  • 87.69 (n)
chicken
(Gallus gallus)
Aves MED23 34 33
  • 82.72 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MED23 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia med23 33
  • 79.28 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68685 33
zebrafish
(Danio rerio)
Actinopterygii med23 34 33
  • 75.52 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta MED23 34 33
  • 55.73 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006046 33
  • 54.23 (n)
worm
(Caenorhabditis elegans)
Secernentea sur-2 34 33
  • 40.23 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
OneToOne
Cin.13682 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13682 33
Species where no ortholog for MED23 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MED23 Gene

ENSEMBL:
Gene Tree for MED23 (if available)
TreeFam:
Gene Tree for MED23 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MED23: view image

Paralogs for MED23 Gene

No data available for Paralogs for MED23 Gene

Variants for MED23 Gene

Sequence variations from dbSNP and Humsavar for MED23 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs104893940 pathogenic, Arginase deficiency 131,583,810(-) C/T genic_downstream_transcript_variant, intron_variant
rs104893942 pathogenic, Arginase deficiency 131,583,808(-) C/G genic_downstream_transcript_variant, intron_variant
rs104893943 pathogenic, Arginase deficiency 131,581,326(-) G/T genic_downstream_transcript_variant, intron_variant
rs104893944 pathogenic, Arginase deficiency, not provided 131,576,666(-) C/G/T genic_downstream_transcript_variant, intron_variant
rs104893947 pathogenic, Arginase deficiency, not provided 131,581,278(-) G/A genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MED23 Gene

Variant ID Type Subtype PubMed ID
nsv7968 CNV loss 18304495
nsv950509 CNV duplication 24416366

Variation tolerance for MED23 Gene

Residual Variation Intolerance Score: 2.39% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.64; 31.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MED23 Gene

Human Gene Mutation Database (HGMD)
MED23
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MED23

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MED23 Gene

Disorders for MED23 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MED23 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 18
  • mrt18
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
med23
  • autosomal recessive nonsyndromic mental retardation-18
- elite association - COSMIC cancer census association via MalaCards
Search MED23 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MED23_HUMAN
  • Mental retardation, autosomal recessive 18 (MRT18) [MIM:614249]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:21868677}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MED23

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MED23: view

No data available for Genatlas for MED23 Gene

Publications for MED23 Gene

  1. The transcriptional cofactor complex CRSP is required for activity of the enhancer-binding protein Sp1. (PMID: 9989412) Ryu S … Tjian R (Nature 1999) 2 3 4 58
  2. MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. (PMID: 21868677) Hashimoto S … Colleaux L (Science (New York, N.Y.) 2011) 3 4 58
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  4. Crosstalk between C/EBPbeta phosphorylation, arginine methylation, and SWI/SNF/Mediator implies an indexing transcription factor code. (PMID: 20111005) Kowenz-Leutz E … Leutz A (The EMBO journal 2010) 3 4 58
  5. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y … Boer JM (Journal of lipid research 2008) 3 44 58

Products for MED23 Gene

Sources for MED23 Gene

Content
Loading form....