MED25 (mediator complex subunit 25)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
81857
Gene name Gene Name - the full gene name approved by the HGNC.
Mediator complex subunit 25
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MED25
Synonyms (NCBI Gene) Gene synonyms aliases
ACID1, ARC92, BVSYS, CMT2B2, P78, PTOV2, TCBAP0758
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.33
Summary Summary of gene provided in NCBI Entrez 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 p
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs142353864 C>T Uncertain-significance, conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs535472885 G>A,C Likely-pathogenic Coding sequence variant, missense variant
rs776291104 C>T Likely-pathogenic Missense variant, coding sequence variant
rs1223073957 C>- Pathogenic Frameshift variant, coding sequence variant
rs1555802864 C>T Likely-pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
miRTarBase ID miRNA Experiments Reference
MIRT052170 hsa-let-7b-5p CLASH 23622248
MIRT043009 hsa-miR-324-3p CLASH 23622248
MIRT038966 hsa-miR-21-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 17641689
GO:0001223 Function Transcription coactivator binding IPI 17641689
GO:0005515 Function Protein binding IPI 17641689, 21378963, 21378965, 24882805, 25281560, 25792360, 32296183, 33961781, 35271311
GO:0005634 Component Nucleus IDA 24882805
GO:0005634 Component Nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610197 28845 ENSG00000104973
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q71SY5
Protein name Mediator of RNA polymerase II transcription subunit 25 (Activator interaction domain-containing protein 1) (Activator-recruited cofactor 92 kDa component) (ARC92) (Mediator complex subunit 25) (p78)
Protein 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 RN
PDB 2KY6 , 2L23 , 2L6U , 2XNF , 7EMF , 7LBM , 8GXQ , 8GXS , 8T9D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11265 Med25_VWA 12 → 226 Mediator complex subunit 25 von Willebrand factor type A Family
PF11235 Med25_SD1 228 → 383 Mediator complex subunit 25 synapsin 1 Domain
PF11232 Med25 396 → 546 Mediator complex subunit 25 PTOV activation and synapsin 2 Domain
PF11244 Med25_NR-box 658 → 747 Mediator complex subunit 25 C-terminal NR box-containing Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Highest levels in brain, heart, kidney, peripheral leukocytes, placenta, skeletal muscle and spleen. {ECO:0000269|PubMed:14657022, ECO:0000269|PubMed:14983011}.
Sequence
Sequence length 747
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    PPARA activates gene expression
Generic Transcription Pathway
Transcriptional regulation of white adipocyte differentiation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth disease type 2 rs781140315 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mental retardation congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome N/A N/A GenCC
Non-Syndromic Intellectual Disability autosomal recessive non-syndromic intellectual disability N/A N/A GenCC
Polyneuropathy polyneuropathy N/A N/A ClinVar
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Ataxia Associate 30039206
Carcinogenesis Associate 34137598
Carcinoma Hepatocellular Associate 35069777
Charcot Marie Tooth Disease Associate 26556829, 30039206
Charcot Marie Tooth disease Type 2B2 Associate 30039206
Neoplasm Metastasis Associate 34137598
Peripheral Nervous System Diseases Associate 26556829
Respiratory Syncytial Virus Infections Associate 35907573
Spastic Paraplegia Hereditary Associate 26556829
Triple Negative Breast Neoplasms Associate 34137598, 38527936