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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 ... See more...
Aliases for MED25 Gene
Aliases for MED25 Gene
External Ids for MED25 Gene
- HGNC: 28845
- NCBI Entrez Gene: 81857
- Ensembl: ENSG00000104973
- OMIM®: 610197
- UniProtKB/Swiss-Prot: Q71SY5
Previous GeneCards Identifiers for MED25 Gene
- GC17P017580
- GC17P017321
- GC19P055016
- GC19P050321
- GC19P046697
Summaries 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-Vanagaite-Smirin-Yosef Syndrome and Charcot-Marie-Tooth Disease, Axonal, Type 2B2. Among its related pathways are Developmental Biology and Gene Expression. Gene Ontology (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 Summary 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.
Additional gene information for MED25 Gene
- HGNC (28845)
- NCBI Entrez Gene (81857)
- Ensembl (ENSG00000104973)
- OMIM® (610197)
- UniProtKB/Swiss-Prot (Q71SY5)
- Open Targets Platform(ENSG00000104973)
- Monarch Initiative
- Search for MED25 at DataMed
- Search for MED25 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MED25 Gene
Genomics for MED25 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for MED25 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around MED25 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MED25
- Top Transcription factor binding sites by QIAGEN in the MED25 gene promoter:
-
- E47
- NF-kappaB1
- Sp1
Genomic Locations for MED25 Gene
Latest Assembly
- chr19:49,818,282-49,840,384
- (GRCh38/hg38)
- Size:
- 22,103 bases
- Orientation:
- Plus strand
Previous Assembly
- chr19:50,321,546-50,343,641
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 22,096 bases
- Orientation:
- Plus strand
- chr19:50,321,539-50,342,073
- (GRCh37/hg19 by Ensembl)
- Size:
- 20,535 bases
- Orientation:
- Plus strand
Genomic View for MED25 Gene
Genes around MED25 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.33 by HGNC
- 19q13.33 by Entrez Gene
- 19q13.33 by Ensembl
MED25 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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=AAS45401.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305}; Sequence=CAB66680.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=CAB66680.1; Type=Miscellaneous discrepancy; Note=Non-canonical splice intron-exon junction.; Evidence={ECO:0000305}; Sequence=CAE84581.1; Type=Miscellaneous discrepancy; Note=Non-canonical splice intron-exon junction.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for MED25 Gene
Protein Expression for MED25 Gene
Post-translational modifications for MED25 Gene
Other Protein References for MED25 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for MED25
- Novus Biologicals Antibodies for MED25
-
Abcam antibodies for MED25
- Invitrogen Antibodies for MED25 (AFLGC-MED25)
-
Biorbyt antibodies for MED25
-
Boster Bio Antibodies for MED25
-
Santa Cruz Biotechnology (SCBT) Antibodies for MED25
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for MED25
- Origene Custom Protein Services for MED25
- Novus Biologicals proteins for MED25
Assay products for research
No data available for DME Specific Peptides for MED25 Gene
Domains & Families for MED25 Gene
Gene Families for MED25 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for MED25 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for MED25 Gene
- GenScript: Design optimal peptide antigens:
-
- Mediator complex subunit MED25 variant MED25_i2 (B9TX29_HUMAN)
- Mediator complex subunit MED25 variant MED25_i5 (B9TX32_HUMAN)
- Mediator complex subunit MED25 variant MED25_i7 (B9TX34_HUMAN)
- Mediator complex subunit MED25 variant MED25_i8 (B9TX35_HUMAN)
- Mediator complex subunit MED25 variant MED25_i9 (B9TX36_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q71SY5- Family:
-
- Belongs to the Mediator complex subunit 25 family.
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.
Phenotypes From GWAS Catalog for MED25 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001223 | transcription coactivator binding | IPI | 17641689 |
| 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 |
Phenotypes for MED25 Gene
- MGI mutant phenotypes for MED25:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for MED25:
Animal Models for MED25 Gene
- MGI Knock Outs for MED25:
-
- Med25 Med25<tm1b(KOMP)Wtsi>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for MED25 - Starting at $85 >
- * MED25 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for MED25
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MED25
-
Santa Cruz Biotechnology (SCBT) CRISPR for MED25
miRNA for MED25 Gene
- miRTarBase miRNAs that target MED25
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MED25
- Browse OriGene Inhibitory RNA Products For MED25
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MED25
Clone products for research
- Applied Biological Materials (abm): Clones for MED25 - Starting at $45 >
- * MED25 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for MED25
- Addgene plasmids for MED25
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for 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
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 4 |
| cytosol | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005667 | transcription factor complex | IBA | 21873635 |
| GO:0016592 | mediator complex | IBA | 21873635 |
Pathways & Interactions for MED25 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
| 2 | Gene Expression |
.48
|
|
| 3 | Metabolism |
.40
|
|
| 4 | Developmental Biology | ||
Pathways by source for MED25 Gene
9 Reactome pathways for MED25 Gene
Interacting Proteins for MED25 Gene
Selected Interacting proteins:
Q71SY5-MED25_HUMAN
ENSP00000326767
for MED25 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for MED25
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IMP | 17641689 |
| GO:0006367 | transcription initiation from RNA polymerase II promoter | TAS | -- |
| GO:0035563 | positive regulation of chromatin binding | IMP | 17641689 |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IBA,IDA | 17641689 |
| GO:0048147 | negative regulation of fibroblast proliferation | IMP | 17641689 |
No data available for SIGNOR curated interactions for MED25 Gene
Transcripts for MED25 Gene
mRNA/cDNA for MED25 Gene
- 2 REFSEQ mRNAs :
- 37 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000312865 2332 nts (view in UCSC)
- ENST00000538643 1623 nts (view in UCSC)
- ENST00000593595 506 nts (view in UCSC)
- ENST00000593636 1012 nts (view in UCSC)
- ENST00000593767 4003 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for MED25 - Starting at $85 >
- * MED25 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for MED25
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MED25
-
Santa Cruz Biotechnology (SCBT) CRISPR for MED25
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MED25
- Browse OriGene Inhibitory RNA Products For MED25
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MED25
Clone products for research
- Applied Biological Materials (abm): Clones for MED25 - Starting at $45 >
- * MED25 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for MED25
- Addgene plasmids for MED25
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MED25
| 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
Expression for MED25 Gene
mRNA differential expression in normal tissues according to GTEx for MED25 Gene
This gene is overexpressed in Whole Blood (x4.7).
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, MaxQB, and MOPED for MED25 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MED25
SOURCE GeneReport for Unigene cluster for MED25 Gene:
Hs.656639mRNA 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(4.3)
- Lung(4.2)
- Blood(4.2)
- 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
Regions:
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
Primer products for research
-
OriGene qPCR primer pairs for MED25
-
OriGene qPCR primer pairs and template standards for MED25
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | MED25 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | MED25 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | MED25 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Med25 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Med25 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | MED25 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | med25 30 |
|
||
| Str.10861 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.4400 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | Dr.25087 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | MED25 31 |
|
OneToMany |
- Species where no ortholog for MED25 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for MED25: view image
Paralogs for MED25 Gene
(2) SIMAP similar genes for MED25 Gene using alignment to 22 proteins:
- MED25_HUMAN
- B9TX29_HUMAN
- B9TX31_HUMAN
- B9TX32_HUMAN
- B9TX33_HUMAN
- B9TX34_HUMAN
- B9TX35_HUMAN
- B9TX36_HUMAN
- B9TX37_HUMAN
- B9TX38_HUMAN
- B9TX39_HUMAN
- B9TX40_HUMAN
- B9TX41_HUMAN
- B9TX42_HUMAN
- B9TX43_HUMAN
- B9TX44_HUMAN
- B9TX45_HUMAN
- B9TX46_HUMAN
- B9TX47_HUMAN
- B9TX48_HUMAN
- M0QYR4_HUMAN
- M0QZQ2_HUMAN
Variants for MED25 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MED25 Gene
| SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 839297 | Uncertain Significance: Charcot-Marie-Tooth disease, type 2 | 49,829,834(+) |
C/T NM_030973.4(MED25):c.574C>T (p.Arg192Trp) |
MISSENSE | |
| 840688 | Uncertain Significance: Charcot-Marie-Tooth disease, type 2 | 49,830,697(+) |
C/T NM_030973.4(MED25):c.911C>T (p.Ser304Leu) |
MISSENSE | |
| 841303 | Uncertain Significance: Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease, type 2 | 49,836,892(+) |
C/T NM_030973.4(MED25):c.2192C>T (p.Pro731Leu) |
MISSENSE_VARIANT,INTRON | |
| 841547 | Uncertain Significance: Charcot-Marie-Tooth disease, type 2 | 49,835,742(+) |
C/T NM_030973.4(MED25):c.1762C>T (p.Pro588Ser) |
MISSENSE | |
| 841790 | Uncertain Significance: Charcot-Marie-Tooth disease, type 2 | 49,818,348(+) |
CCCGGGTCCGAGGGCC
NM_030973.4(MED25):c.13_36del (p.Glu6_Ser13del) |
INFRAME_DELETION |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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)
Additional Variant Information for MED25 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MED25 Gene
Disorders for MED25 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| basel-vanagaite-smirin-yosef syndrome |
|
|
| charcot-marie-tooth disease, axonal, type 2b2 |
|
|
| autosomal recessive non-syndromic intellectual disability |
|
|
| charcot-marie-tooth disease |
|
|
| tooth disease |
|
|
Search MED25 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
MED25_HUMAN- 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. {ECO:0000269 PubMed:19290556}. Note=The disease is caused by variants affecting the gene represented in this entry.
- 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 variants affecting the gene represented in this entry.
Additional Disease Information for MED25
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for MED25 Gene
Publications for MED25 Gene
- Homozygous MED25 mutation implicated in eye-intellectual disability syndrome. (PMID: 25792360) Basel-Vanagaite L … Behar DM (Human genetics 2015) 3 4 74
- 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 23
- A prostate-derived cDNA that is mapped to human chromosome 19 encodes a novel protein. (PMID: 12163014) Wang C … Steiner MS (Biochemical and biophysical research communications 2002) 3 4 23
- Toward 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 research 2001) 2 3 4
- Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family. (PMID: 25527630) Figueiredo T … Santos S (Journal of medical genetics 2015) 3 4
ExternalLinks
Products for MED25 Gene
- Custom Antibody ServicesOriGene Antibodies for MED25
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for MED25
- Origene Custom Protein Services for MED25
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MED25
- Browse OriGene Inhibitory RNA Products For MED25
- OriGene qPCR primer pairs for MED25
- OriGene qPCR primer pairs and template standards for MED25
- OriGene CRISPR knockouts for MED25
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For MED25
- Sino Biological Human cDNA Clone for MED25
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for MED25
- Novus Biologicals proteins for MED25
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for MED25
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for MED25 (AFLGC-MED25)
- VectorBuilder Custom and pre-made DNA vectors for MED25 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for MED25 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for MED25 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for MED25 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for MED25
- Addgene plasmids for MED25
- antibodies-online: Show 25 available MED25 Antibodies ranked by validation data
- Compare Top MED25 Antibodies
- antibodies-online: Show 11 available MED25 Elisa Kits ranked by validation data
- Compare Top MED25 Elisa Kits
- antibodies-online: Show 3 available MED25 Proteins ranked by validation data
- Compare Top MED25 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for MED25
- Search Santa Cruz Biotechnology (SCBT) for MED25 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for MED25
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MED25
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MED25
- Search GeneCopoeia for miRNA 3'UTR Target clone products for MED25
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MED25
- Boster Bio Antibodies for MED25
- Browse Boster Bio ELISA Kits
- Biorbyt antibodies for MED25
Sources for MED25 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB