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Aliases for MED25 Gene

Aliases for MED25 Gene

  • Mediator Complex Subunit 25 2 3 4 5
  • Activator Interaction Domain-Containing Protein 1 3 4
  • Activator-Recruited Cofactor 92 KDa Component 3 4
  • ACID1 3 4
  • ARC92 3 4
  • PTOV2 3 4
  • P78 3 4
  • Mediator Of RNA Polymerase II Transcription, Subunit 25 Homolog (S. Cerevisiae) 2
  • Mediator Of RNA Polymerase II Transcription, Subunit 25 Homolog 3
  • Mediator Of RNA Polymerase II Transcription Subunit 25 3
  • ARC/Mediator Transcriptional Coactivator Subunit 3
  • Prostate-Derived Protein 78 KDa 3
  • TCBAP0758 3
  • CMT2B2 3
  • BVSYS 3

External Ids for MED25 Gene

Previous GeneCards Identifiers for MED25 Gene

  • GC17P017580
  • GC17P017321
  • GC19P055016
  • GC19P050321
  • GC19P046697

Summaries for MED25 Gene

Entrez Gene Summary for MED25 Gene

  • This gene encodes a component of the transcriptional coactivator complex termed the Mediator complex. This complex is required for transcription of most RNA polymerase II-dependent genes. The encoded protein plays a role in chromatin modification and in preinitiation complex assembly. Mutations in this gene are associated with Charcot-Marie-Tooth disease type 2B2. [provided by RefSeq, Apr 2010]

GeneCards Summary for MED25 Gene

MED25 (Mediator Complex Subunit 25) is a Protein Coding gene. Diseases associated with MED25 include Basel-Vanagait-Smirin-Yosef Syndrome and Charcot-Marie-Tooth Disease, Type 2B2. Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Gene Expression. GO annotations related to this gene include transcription factor binding and retinoid X receptor binding. An important paralog of this gene is PTOV1.

UniProtKB/Swiss-Prot for MED25 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. Required for RARA/RXRA-mediated transcription.

Gene Wiki entry for MED25 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MED25 Gene

Genomics for MED25 Gene

Regulatory Elements for MED25 Gene

Enhancers for MED25 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
GH19G049849 1.1 ENCODE 20.1 +32.9 32877 3.7 HDGF PKNOX1 ARNT CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 PRR12 FUZ MED25 ENSG00000268047 BCL2L12 RPS11 SNORD35A C19orf48 PIH1D1 DKKL1
GH19G049816 1.7 FANTOM5 ENCODE dbSUPER 9.5 +0.5 467 5.0 HDGF PKNOX1 CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1 YBX1 PNKP PTOV1-AS2 PTOV1 AP2A1 RNU6-841P TSKS FUZ MED25 PTOV1-AS1 ATF5
GH19G049773 1.7 FANTOM5 Ensembl ENCODE dbSUPER 8.7 -44.5 -44511 1.4 HDGF FOXA2 ARNT THRB ZNF48 RAD21 RARA EGR1 MIXL1 EGR2 MED25 TSKS AP2A1 VRK3 BCL2L12 MIR6799
GH19G049848 1.2 Ensembl ENCODE 12.2 +30.2 30234 0.9 CBX3 ZNF121 FOS ETV6 SP3 ZBTB11 JUNB USF2 REST ELF1 MED25 FUZ ADM5 CPT1C PRMT1 PTOV1 MIR6800
GH19G049865 1.4 ENCODE dbSUPER 7 +49.9 49865 6.2 CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D ZNF610 AKT1S1 NUP62 PNKP PRR12 MED25 FUZ PTOV1-AS2 PIR46791
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MED25 on UCSC Golden Path with GeneCards custom track

Promoters for MED25 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000110964 -179 2201 HDGF PKNOX1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1 YBX1 ZBTB7B

Genomic Location for MED25 Gene

Chromosome:
19
Start:
49,818,279 bp from pter
End:
49,840,384 bp from pter
Size:
22,106 bases
Orientation:
Plus strand

Genomic View for MED25 Gene

Genes around MED25 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MED25 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MED25 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MED25 Gene

Proteins for MED25 Gene

  • Protein details for MED25 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q71SY5-MED25_HUMAN
    Recommended name:
    Mediator of RNA polymerase II transcription subunit 25
    Protein Accession:
    Q71SY5
    Secondary Accessions:
    • A8K095
    • B9TX30
    • O95783
    • Q6P143
    • Q6QMH5
    • Q707U4
    • Q8TB55
    • Q9H0L5
    • Q9HB34

    Protein attributes for MED25 Gene

    Size:
    747 amino acids
    Molecular mass:
    78171 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. Interacts with CREBBP. Interacts with ESR1, GR, RARA, RXRA and THRB in a ligand-dependent fashion. Binds the Herpes simplex virus activator VP16.
    SequenceCaution:
    • Sequence=AAG15589.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAB66680.1; Type=Frameshift; Positions=567; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MED25 Gene

    Alternative splice isoforms for MED25 Gene

neXtProt entry for MED25 Gene

Post-translational modifications for MED25 Gene

  • Ubiquitination at posLast=197197 and Lys484
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for MED25
  • Santa Cruz Biotechnology (SCBT) Antibodies for MED25

No data available for DME Specific Peptides for MED25 Gene

Domains & Families for MED25 Gene

Gene Families for MED25 Gene

Graphical View of Domain Structure for InterPro Entry

Q71SY5

UniProtKB/Swiss-Prot:

MED25_HUMAN :
  • Belongs to the Mediator complex subunit 25 family.
Family:
  • Belongs to the Mediator complex subunit 25 family.
genes like me logo Genes that share domains with MED25: view

Function for MED25 Gene

Molecular function for MED25 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. Required for RARA/RXRA-mediated transcription.

Gene Ontology (GO) - Molecular Function for MED25 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17641689
GO:0008134 transcription factor binding IPI 17641689
GO:0042974 retinoic acid receptor binding IPI 17641689
GO:0046965 retinoid X receptor binding IPI 17641689
genes like me logo Genes that share ontologies with MED25: view
genes like me logo Genes that share phenotypes with MED25: view

Human Phenotype Ontology for MED25 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MED25 Gene

MGI Knock Outs for MED25:

Animal Model Products

CRISPR Products

miRNA for MED25 Gene

miRTarBase miRNAs that target MED25

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MED25 Gene

Localization for MED25 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MED25 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 MED25 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MED25 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS,IDA --
GO:0044798 nuclear transcription factor complex IEA --
genes like me logo Genes that share ontologies with MED25: view

Pathways & Interactions for MED25 Gene

genes like me logo Genes that share pathways with MED25: view

Gene Ontology (GO) - Biological Process for MED25 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 17641689
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0035563 positive regulation of chromatin binding IMP 17641689
genes like me logo Genes that share ontologies with MED25: view

No data available for SIGNOR curated interactions for MED25 Gene

Transcripts for MED25 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for MED25 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1:
SP2: -
SP3: -
SP4:
SP5: -
SP6:

Relevant External Links for MED25 Gene

GeneLoc Exon Structure for
MED25
ECgene alternative splicing isoforms for
MED25

Expression for MED25 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MED25 Gene

mRNA differential expression in normal tissues according to GTEx for MED25 Gene

This gene is overexpressed in Whole Blood (x4.7).

Protein differential expression in normal tissues from HIPED for MED25 Gene

This gene is overexpressed in NK cells (9.7), Testis (8.4), Placenta (8.1), and Fetal ovary (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MED25 Gene



Protein tissue co-expression partners for MED25 Gene

NURSA nuclear receptor signaling pathways regulating expression of MED25 Gene:

MED25

SOURCE GeneReport for Unigene cluster for MED25 Gene:

Hs.656639

mRNA Expression by UniProt/SwissProt for MED25 Gene:

Q71SY5-MED25_HUMAN
Tissue specificity: Ubiquitously expressed. Highest levels in brain, heart, kidney, peripheral leukocytes, placenta, skeletal muscle and spleen.

Evidence on tissue expression from TISSUES for MED25 Gene

  • Eye(4.2)
  • Lung(4.2)
  • Blood(4.1)
  • Nervous system(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MED25 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • lip
  • mouth
  • nose
  • skull
Pelvis:
  • penis
  • urethra
Limb:
  • arm
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • upper limb
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with MED25: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for MED25 Gene

Orthologs for MED25 Gene

This gene was present in the common ancestor of animals.

Orthologs for MED25 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MED25 34 35
  • 97.25 (n)
cow
(Bos Taurus)
Mammalia MED25 34 35
  • 90.66 (n)
dog
(Canis familiaris)
Mammalia MED25 34 35
  • 89.95 (n)
rat
(Rattus norvegicus)
Mammalia Med25 34
  • 85.68 (n)
mouse
(Mus musculus)
Mammalia Med25 34 16 35
  • 85.41 (n)
oppossum
(Monodelphis domestica)
Mammalia MED25 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia med25 34
  • 68.05 (n)
Str.10861 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.4400 34
zebrafish
(Danio rerio)
Actinopterygii Dr.25087 34
fruit fly
(Drosophila melanogaster)
Insecta MED25 35
  • 23 (a)
OneToMany
Species where no ortholog for MED25 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 MED25 Gene

ENSEMBL:
Gene Tree for MED25 (if available)
TreeFam:
Gene Tree for MED25 (if available)

Paralogs for MED25 Gene

Variants for MED25 Gene

Sequence variations from dbSNP and Humsavar for MED25 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs145770066 Pathogenic, Charcot-Marie-Tooth disease 2B2 (CMT2B2) [MIM:605589] 49,830,790(+) TGGCG(C/T)CCCCA upstream-variant-2KB, reference, missense
rs794729668 Pathogenic, Basel-Vanagaite-Smirin-Yosef syndrome (BVSYS) [MIM:616449] 49,818,457(+) GCACT(A/G)CCTGC upstream-variant-2KB, reference, missense
rs147538736 Likely benign 49,829,924(+) TGGTG(C/T)TGGTT reference, synonymous-codon
rs74863643 Likely benign 49,819,225(+) GCTCC(C/G/T)GAGTC upstream-variant-2KB, reference, synonymous-codon
rs77400039 Likely benign 49,818,601(+) GAGAC(A/G)GACTT upstream-variant-2KB, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for MED25 Gene

Variant ID Type Subtype PubMed ID
dgv53n68 CNV loss 17160897
esv2659864 CNV deletion 23128226
nsv1114025 CNV deletion 24896259
nsv1140251 OTHER inversion 24896259
nsv1160655 CNV deletion 26073780
nsv470150 CNV gain 18288195
nsv953600 CNV deletion 24416366
nsv9739 CNV gain+loss 18304495

Variation tolerance for MED25 Gene

Residual Variation Intolerance Score: 40.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.81; 34.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MED25 Gene

Human Gene Mutation Database (HGMD)
MED25
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MED25

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MED25 Gene

Disorders for MED25 Gene

MalaCards: The human disease database

(12) MalaCards diseases for MED25 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
basel-vanagait-smirin-yosef syndrome
  • basel-vanagaite-smirin-yosef syndrome
charcot-marie-tooth disease, type 2b2
  • charcot-marie-tooth disease, axonal, type 2b2
autosomal recessive non-syndromic intellectual disability
  • autosomal recessive mental retardation
tooth disease
  • dental disorder
med23
  • autosomal recessive nonsyndromic mental retardation-18
- elite association - COSMIC cancer census association via MalaCards
Search MED25 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MED25_HUMAN
  • Basel-Vanagaite-Smirin-Yosef syndrome (BVSYS) [MIM:616449]: An autosomal recessive syndrome characterized by eye, brain, cardiac and palatal abnormalities as well as growth retardation, microcephaly and severe intellectual disability. {ECO:0000269 PubMed:25792360}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 2B2 (CMT2B2) [MIM:605589]: A recessive axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269 PubMed:19290556}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MED25

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MED25
genes like me logo Genes that share disorders with MED25: view

No data available for Genatlas for MED25 Gene

Publications for MED25 Gene

  1. Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. (PMID: 19290556) Leal A. … Rautenstrauss B. (Neurogenetics 2009) 3 4 22 64
  2. A prostate-derived cDNA that is mapped to human chromosome 19 encodes a novel protein. (PMID: 12163014) Wang C. … Steiner M.S. (Biochem. Biophys. Res. Commun. 2002) 3 4 22 64
  3. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 2 3 4 64
  4. Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family. (PMID: 25527630) Figueiredo T. … Santos S. (J. Med. Genet. 2015) 3 4 64
  5. Homozygous MED25 mutation implicated in eye-intellectual disability syndrome. (PMID: 25792360) Basel-Vanagaite L. … Behar D.M. (Hum. Genet. 2015) 3 4 64

Products for MED25 Gene

Sources for MED25 Gene

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