MED26
protein-codingmediator complex subunit 26, the group of Mediator complex
Gene summary
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. [provided by RefSeq, Jul 2008]
- CRSP7
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~54.2 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to MED26 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_004831.5. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 113 | 5 | 118 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 116 | 5 | 1 | 122 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_004822.2 | 3 | MANE Select | |
| Ensembl | ENSP00000263390.3 | 3 | MANE Select | |
| Ensembl | ENSP00000469434.1 | 2 | Standard | |
| Ensembl | ENSP00000471040.1 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Developmental Biology
- Gene expression (Transcription)
- Generic Transcription Pathway
- RNA Polymerase II Transcription
- Transcriptional regulation of white adipocyte differentiation
Biological Process
- regulation of transcription by RNA polymerase II
- transcription initiation from RNA polymerase II promoter
- positive regulation of gene expression
- positive regulation of nucleic acid-templated transcription
Molecular Function
- transcription coregulator activity
- transcription coactivator activity
- protein binding
Cellular Component
- nucleoplasm
- mediator complex
- core mediator complex
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000263390
- Coding exons
- 3
- Length
- 54156
- Individuals with no LoFs
- 125579
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 169
- Defined
- 125748
- p
- 0.000672
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.13 | 339 | 403 | 0.842 | 0.0000282 | 3840 |
| Missense (PolyPhen) | 80 | 114.91 | 0.6962 | 1073 | ||
| Synonymous | -1.12 | 203 | 184 | 1.11 | 0.0000137 | 1284 |
| Loss of Function | 3.54 | 3 | 20.2 | 0.149 | 0.00000121 | 197 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00012 | 0.00012 | rare |
| Latino/Admixed American | 0.000058 | 0.000058 | rare |
| Ashkenazi Jewish | 0.0011 | 0.0011 | notable |
| East Asian | 0.000056 | 0.000054 | rare |
| Finnish | 0.0028 | 0.0028 | notable |
| European (Non-Finnish) | 0.00077 | 0.00077 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0.00065 | 0.00065 | rare |
dbNSFP Gene Annotations
Source:
- Function
- 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 pre-initiation complex with RNA polymerase II and the general transcription factors.;
Intolerance Scores
- RVIS EVS
- -1.22
- RVIS percentile EVS
- 5.6
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- E
- Essential (gene trap)
- E
- Indispensability pred.
- E
- Indispensability score
- 0.675
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |