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Aliases for MED30 Gene

Aliases for MED30 Gene

  • Mediator Complex Subunit 30 2 3 4 5
  • Thyroid Hormone Receptor-Associated Protein Complex 25 KDa Component 3 4
  • Thyroid Hormone Receptor-Associated Protein 6 3 4
  • TRAP/Mediator Complex Component TRAP25 3 4
  • THRAP6 3 4
  • TRAP25 3 4
  • Putative Mediator Of RNA Polymerase II Transcription Subunit 30 3
  • Mediator Of RNA Polymerase II Transcription Subunit 30 3
  • Thyroid Hormone Receptor Associated Protein 6 2
  • MED30S 3

External Ids for MED30 Gene

Previous HGNC Symbols for MED30 Gene

  • THRAP6

Previous GeneCards Identifiers for MED30 Gene

  • GC08P118603
  • GC08P113859

Summaries for MED30 Gene

Entrez Gene Summary for MED30 Gene

  • The multiprotein TRAP/Mediator complex facilitates gene expression through a wide variety of transcriptional activators. MED30 is a component of this complex that appears to be metazoan specific (Baek et al., 2002 [PubMed 11909976]).[supplied by OMIM, Nov 2010]

GeneCards Summary for MED30 Gene

MED30 (Mediator Complex Subunit 30) is a Protein Coding gene. Diseases associated with MED30 include Cornelia De Lange Syndrome 1. Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Metabolism. GO annotations related to this gene include receptor activity and ligand-dependent nuclear receptor transcription coactivator activity.

UniProtKB/Swiss-Prot for MED30 Gene

  • 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 preinitiation complex with RNA polymerase II and the general transcription factors.

Gene Wiki entry for MED30 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MED30 Gene

Genomics for MED30 Gene

Regulatory Elements for MED30 Gene

Enhancers for MED30 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F118126 1.3 Ensembl ENCODE 32.6 +606.2 606167 1.2 ZFP64 TEAD4 ZNF266 ZNF140 ZIC2 ZNF101 ZNF664 ZNF791 RBAK ZNF354C MED30 LOC105375724 EXT1 ENSG00000279535
GH08F116754 0.5 ENCODE 15 -765.2 -765151 2.1 HDGF PKNOX1 ATF1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF48 BRCA1 MED30 UTP23 LOC105375713
GH08F117618 0.2 ENCODE 14 +99.0 98986 1.6 PKNOX1 INSM2 KLF17 FEZF1 ZEB1 RFX5 ZNF366 RCOR1 ZNF548 FOS UTP23 MED30 LOC105375721 RPS10P16
GH08F118014 1.1 Ensembl ENCODE 13.9 +497.5 497459 7.8 FEZF1 ZNF2 ZNF366 FOS ZNF548 ZNF362 CEBPB JUNB ZEB2 ZNF843 MED30 EXT1 GC08M118034 GC08M117980
GH08F118491 0.2 ENCODE 13.2 +971.3 971314 0.2 CTCF PKNOX1 JUN CEBPB EP300 ZNF264 RFX5 JUND MAFF STAT3 MED30 GC08M118561 GC08M118294
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MED30 on UCSC Golden Path with GeneCards custom track

Promoters for MED30 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001399627 388 2599 PKNOX1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 FOS DEK CEBPZ

Genomic Location for MED30 Gene

Chromosome:
8
Start:
117,520,713 bp from pter
End:
117,540,262 bp from pter
Size:
19,550 bases
Orientation:
Plus strand

Genomic View for MED30 Gene

Genes around MED30 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MED30 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MED30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MED30 Gene

Proteins for MED30 Gene

  • Protein details for MED30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96HR3-MED30_HUMAN
    Recommended name:
    Mediator of RNA polymerase II transcription subunit 30
    Protein Accession:
    Q96HR3
    Secondary Accessions:
    • C6GKU9

    Protein attributes for MED30 Gene

    Size:
    178 amino acids
    Molecular mass:
    20277 Da
    Quaternary structure:
    • 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.

    Alternative splice isoforms for MED30 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MED30 Gene

Post-translational modifications for MED30 Gene

  • Ubiquitination at Lys 157
  • Modification sites at PhosphoSitePlus

Other Protein References for MED30 Gene

No data available for DME Specific Peptides for MED30 Gene

Domains & Families for MED30 Gene

Gene Families for MED30 Gene

Protein Domains for MED30 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MED30 Gene

Graphical View of Domain Structure for InterPro Entry

Q96HR3

UniProtKB/Swiss-Prot:

MED30_HUMAN :
  • Belongs to the Mediator complex subunit 30 family.
Family:
  • Belongs to the Mediator complex subunit 30 family.
genes like me logo Genes that share domains with MED30: view

Function for MED30 Gene

Molecular function for MED30 Gene

UniProtKB/Swiss-Prot Function:
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 preinitiation complex with RNA polymerase II and the general transcription factors.

Gene Ontology (GO) - Molecular Function for MED30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001104 RNA polymerase II transcription cofactor activity IDA 10198638
GO:0003712 transcription cofactor activity IDA 12218053
GO:0004872 receptor activity IDA 12218053
GO:0005515 protein binding IPI 21784977
GO:0030374 ligand-dependent nuclear receptor transcription coactivator activity NAS 10235266
genes like me logo Genes that share ontologies with MED30: view
genes like me logo Genes that share phenotypes with MED30: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MED30 Gene

Localization for MED30 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MED30 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MED30 Gene COMPARTMENTS Subcellular localization image for MED30 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MED30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IEA --
GO:0005634 nucleus IEA,IDA 10235267
GO:0005654 nucleoplasm TAS --
GO:0016592 mediator complex IDA 10198638
genes like me logo Genes that share ontologies with MED30: view

Pathways & Interactions for MED30 Gene

genes like me logo Genes that share pathways with MED30: view

Pathways by source for MED30 Gene

Gene Ontology (GO) - Biological Process for MED30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with MED30: view

No data available for SIGNOR curated interactions for MED30 Gene

Transcripts for MED30 Gene

Unigene Clusters for MED30 Gene

Mediator complex subunit 30:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MED30 Gene

No ASD Table

Relevant External Links for MED30 Gene

GeneLoc Exon Structure for
MED30
ECgene alternative splicing isoforms for
MED30

Expression for MED30 Gene

mRNA expression in normal human tissues for MED30 Gene

Protein differential expression in normal tissues from HIPED for MED30 Gene

This gene is overexpressed in Colon muscle (46.8) and Plasma (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MED30 Gene



Protein tissue co-expression partners for MED30 Gene

NURSA nuclear receptor signaling pathways regulating expression of MED30 Gene:

MED30

SOURCE GeneReport for Unigene cluster for MED30 Gene:

Hs.492612

mRNA Expression by UniProt/SwissProt for MED30 Gene:

Q96HR3-MED30_HUMAN
Tissue specificity: Expressed in brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle.
genes like me logo Genes that share expression patterns with MED30: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MED30 Gene

Orthologs for MED30 Gene

This gene was present in the common ancestor of animals.

Orthologs for MED30 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MED30 34 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia MED30 34 35
  • 94.01 (n)
cow
(Bos Taurus)
Mammalia MED30 34 35
  • 92.92 (n)
oppossum
(Monodelphis domestica)
Mammalia MED30 35
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Med30 34 16 35
  • 90.07 (n)
rat
(Rattus norvegicus)
Mammalia Med30 34
  • 89.28 (n)
chicken
(Gallus gallus)
Aves MED30 34 35
  • 80.79 (n)
lizard
(Anolis carolinensis)
Reptilia MED30 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia med30 34
  • 74.91 (n)
Str.16066 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.29036 34
zebrafish
(Danio rerio)
Actinopterygii med30 34 35
  • 72.12 (n)
zgc73113 34
fruit fly
(Drosophila melanogaster)
Insecta MED30 34 35
  • 55.41 (n)
Species where no ortholog for MED30 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for MED30 Gene

ENSEMBL:
Gene Tree for MED30 (if available)
TreeFam:
Gene Tree for MED30 (if available)

Paralogs for MED30 Gene

No data available for Paralogs for MED30 Gene

Variants for MED30 Gene

Sequence variations from dbSNP and Humsavar for MED30 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs10095891 -- 117,524,849(+) ataca(C/T)aacca intron-variant
rs10096601 -- 117,525,489(+) TTGCC(A/G)TGCAT intron-variant
rs10102741 -- 117,522,815(+) TAAAG(G/T)ACGGA intron-variant
rs10107653 -- 117,527,780(+) GAAAA(C/T)GTGGT intron-variant
rs10108028 -- 117,520,822(+) CCGGG(C/G)AGACC upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for MED30 Gene

Variant ID Type Subtype PubMed ID
nsv831436 CNV loss 17160897
nsv981976 CNV duplication 23825009

Variation tolerance for MED30 Gene

Residual Variation Intolerance Score: 71.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.33; 41.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MED30 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MED30

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MED30 Gene

Disorders for MED30 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MED30 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cornelia de lange syndrome 1
  • cornelia de lange syndrome
- elite association - COSMIC cancer census association via MalaCards
Search MED30 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MED30

Genetic Association Database (GAD)
MED30
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MED30
genes like me logo Genes that share disorders with MED30: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MED30 Gene

Publications for MED30 Gene

  1. Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis. (PMID: 22446961) Lee Y.C. … Wu J.Y. (Nat. Genet. 2012) 3 46 64
  2. MED1/TRAP220 exists predominantly in a TRAP/Mediator subpopulation enriched in RNA polymerase II and is required for ER-mediated transcription. (PMID: 15989967) Zhang X. … Roeder R.G. (Mol. Cell 2005) 3 4 64
  3. A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology. (PMID: 15175163) Sato S. … Conaway R.C. (Mol. Cell 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Identification of mammalian Mediator subunits with similarities to yeast Mediator subunits Srb5, Srb6, Med11, and Rox3. (PMID: 12584197) Sato S. … Conaway J.W. (J. Biol. Chem. 2003) 3 4 64

Products for MED30 Gene

Sources for MED30 Gene

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