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 TF... See more...

Aliases for MED23 Gene

Aliases for MED23 Gene

  • Mediator Complex Subunit 23 2 3 4 5
  • DRIP130 2 3 4
  • Cofactor Required For Sp1 Transcriptional Activation Subunit 3 3 4
  • Mental Retardation, Non-Syndromic, Autosomal Recessive, 18 2 3
  • Mediator Of RNA Polymerase II Transcription Subunit 23 3 4
  • Activator-Recruited Cofactor 130 KDa Component 3 4
  • CRSP130 2 3
  • 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
  • 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
  • CRSP133 3
  • HSur-2 4
  • MRT18 3
  • SUR-2 3
  • MED23 5
  • Sur2 2

External Ids for MED23 Gene

Previous HGNC Symbols for MED23 Gene

  • CRSP3
  • MRT18

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 Developmental Biology and Gene Expression. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity.

UniProtKB/Swiss-Prot Summary 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MED23 Gene

Genomics for MED23 Gene

GeneHancer (GH) Regulatory Elements Pubs

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 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 335.8 +0.4 449 2.5 TBP SP1 ZBTB10 MXD4 FEZF1 CEBPA SIX5 NR2C1 MNT DEK MED23 ENPP3 lnc-OR2A4-1 ARG1 CTAGE9 ENSG00000237115 ENPP1 lnc-OR2A4-3
GH06J131946 Promoter/Enhancer 2.5 VISTA EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 23.1 -322.8 -322755 10.9 CHD2 MXD4 CEBPA ETS1 ZFP64 ZNF217 CTCF ELF1 HOMEZ ZNF610 ENSG00000227220 CCN2 HSALNG0053516 MED23 SNORA33 LINC01013 lnc-ENPP1-5 ENPP1
GH06J131629 Enhancer 0.2 FANTOM5 250.7 -1.5 -1528 0.3 ENPP3 MED23 lnc-OR2A4-1 HSALNG0053502 OR2A4
GH06J132510 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 19.2 -884.0 -883973 5.4 TBP BCL11A SP1 MXD4 MNT IKZF1 SMAD5 ZFP64 POLR2A BHLHE40 STX7 lnc-MOXD1-2 SNORA33 MED23 RPS12 SNORD100 SNORD101 ENSG00000237115 ENPP1 VNN2
GH06J132399 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 21.6 -772.0 -771987 4.6 ZBTB10 FEZF1 ZIC2 ZNF610 ZNF341 ZNF843 KLF9 BCL11B PRDM6 ZNF2 MOXD1 lnc-TAAR9-3 MED23 SNORA33 piR-51154-014 CCN2
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MED23

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

Genomic Locations for MED23 Gene

Latest Assembly
chr6:131,573,966-131,628,313
(GRCh38/hg38)
Size:
54,348 bases
Orientation:
Minus strand

Previous Assembly
chr6:131,895,106-131,949,453
(GRCh37/hg19 by Entrez Gene)
Size:
54,348 bases
Orientation:
Minus strand

chr6:131,895,106-131,949,369
(GRCh37/hg19 by Ensembl)
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=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAD31729.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAA86530.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MED23 Gene

    Alternative splice isoforms for MED23 Gene

neXtProt entry for MED23 Gene

Post-translational modifications for MED23 Gene

  • Ubiquitination at Lys242, Lys253, Lys260, Lys673, and Lys1082
  • 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:

Suggested Antigen Peptide Sequences for MED23 Gene

GenScript: Design optimal peptide antigens:
  • Mediator complex subunit MED23 variant MED23_i2 (B9TX49_HUMAN)
  • Mediator complex subunit MED23 variant MED23_i3 (B9TX50_HUMAN)
  • Mediator complex subunit MED23 variant MED23_i4 (B9TX51_HUMAN)
  • Mediator complex subunit MED23 variant MED23_i5 (B9TX52_HUMAN)
  • Mediator complex subunit MED23 variant MED23_i6 (B9TX53_HUMAN)

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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MED23

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
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endosome 1
endoplasmic reticulum 0
golgi apparatus 0

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
GO:0016592 mediator complex IBA 21873635
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

Pathways by source for MED23 Gene

1 GeneGo (Thomson Reuters) pathway for MED23 Gene
  • Transcription Ligand-Dependent Transcription of Retinoid-Target genes

Gene Ontology (GO) - Biological Process for MED23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IDA 9989412
GO:0006357 regulation of transcription by RNA polymerase II TAS,IBA 21873635
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0010628 positive regulation of gene expression IBA 21873635
GO:0045893 positive regulation of transcription, DNA-templated IEA --
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

mRNA/cDNA for MED23 Gene

12 REFSEQ mRNAs :
26 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MED23

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

Expression for MED23 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MED23

SOURCE GeneReport for Unigene cluster for MED23 Gene:

Hs.29679

Evidence on tissue expression from TISSUES for MED23 Gene

  • Nervous system(4.5)
  • Liver(2.4)
  • Skin(2)

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

Primer products for research

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 30 31
  • 99.63 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MED23 31
  • 95 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MED23 31
  • 95 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia MED23 30 31
  • 93.1 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MED23 30 31
  • 92.3 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Med23 30 17 31
  • 87.95 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Med23 30
  • 87.69 (n)
Chicken
(Gallus gallus)
Aves MED23 30 31
  • 82.72 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MED23 31
  • 92 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia med23 30
  • 79.28 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68685 30
Zebrafish
(Danio rerio)
Actinopterygii med23 30 31
  • 75.52 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta MED23 30 31
  • 55.73 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006046 30
  • 54.23 (n)
Worm
(Caenorhabditis elegans)
Secernentea sur-2 30 31
  • 40.23 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.13682 30
Species where no ortholog for MED23 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MED23 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
837901 Likely Pathogenic: Arginase deficiency 131,579,110(-) G/C
NM_000045.4(ARG1):c.131-1G>C
SPLICE_ACCEPTOR_VARIANT,MISSENSE_VARIANT,INTRON
839881 Pathogenic: Arginase deficiency 131,581,247(-) G/GC
NM_000045.4(ARG1):c.336dup (p.Arg113fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
847351 Pathogenic: Arginase deficiency 131,579,122(-) A/T
NM_000045.4(ARG1):c.142A>T (p.Lys48Ter)
NONSENSE,NON_CODING_TRANSCRIPT_VARIANT,INTRON
852613 Pathogenic: Arginase deficiency 131,581,374(-) G/GA
NM_000045.4(ARG1):c.464dup (p.Ile156fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
859241 Uncertain Significance: Arginase deficiency 131,583,795(-) C/A
NM_000045.4(ARG1):c.856C>A (p.Pro286Thr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MED23 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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 Assays for research

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

Disorders for MED23 Gene

MalaCards: The human disease database

(6) MalaCards diseases for MED23 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

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
fraser syndrome 3
  • frasrs3
disease of mental health
  • mental health
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for MED23

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

No data available for Genatlas for MED23 Gene

Publications for MED23 Gene

  1. 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 74
  2. 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
  3. Novel mutation in the MED23 gene for intellectual disability: A case report and literature review. (PMID: 30847200) Hashemi-Gorji F … Miryounesi M (Clinical case reports 2019) 2 3
  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
  5. 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 41

Products for MED23 Gene

Sources for MED23 Gene