MED31 Gene - Mediator Complex Subunit 31
A key component of the Mediator complex involved in transcriptional regulation
Gene Information Card
| Symbol | MED31 |
|---|---|
| Full Name | Mediator Complex Subunit 31 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 51003 ncbi.nlm.nih.gov/gene/51003 |
| Ensembl ID | ENSG00000108433 |
| UniProt ID | Q9Y3C7 |
| OMIM ID | 612228 |
| HGNC ID | 24596 |
| Aliases | SOH1, CGI-125, HSPC126, MED31_HUMAN |
Description
MED31 (Mediator Complex Subunit 31) encodes a component of the Mediator complex, a multiprotein complex that acts as a bridge between transcription factors and RNA polymerase II to regulate transcription. MED31 is essential for proper gene expression and is involved in various cellular processes including cell growth, differentiation, and development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | MED31 overexpression may contribute to tumorigenesis by altering transcriptional programs | COSMIC, literature |
| Breast Cancer | Altered MED31 expression linked to poor prognosis and metastasis | COSMIC, literature |
| Hepatocellular Carcinoma | MED31 upregulation associated with increased cell proliferation | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 10.2 | Medium |
| Adrenal Gland | 9.8 | Medium |
| Bone Marrow | 8.5 | Medium |
| Lymph Node | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | Cervical cancer cell line |
| HEK293 | 12.5 | Embryonic kidney cells |
| K562 | 10.0 | Leukemia cell line |
| MCF7 | 9.5 | Breast cancer cell line |
| HepG2 | 8.0 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Nonsense | <0.01% | Predicted loss of function |
| c.200_201del | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in MED31 are predicted to cause loss of function, potentially impairing Mediator complex assembly and transcriptional regulation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for MED31.
Dominant Negative (DN)
No dominant-negative mutations have been described for MED31.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mediator complex pathway
• RNA polymerase II transcription initiation
• Gene expression (Transcription)
Protein Summary
MED31 is a 130-amino acid protein (14.9 kDa) that localizes to the nucleus and is a subunit of the Mediator complex. It interacts with other Mediator subunits to facilitate the assembly of the pre-initiation complex and regulate RNA polymerase II activity. MED31 is highly conserved across eukaryotes and is essential for viability in model organisms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MED31 Knockout HEK293 Cell Line | EDJ-KQ51267 | Human | 51003 | Details Get a Quote |
| MED31 Knockout HeLa Cell Line | EDJ-KQ56208 | Human | 51003 | Details Get a Quote |
| MED31 Knockout A-549 Cell Line | EDJ-KQ64699 | Human | 51003 | Details Get a Quote |
| MED31 Knockout HCT 116 Cell Line | EDJ-KQ73145 | Human | 51003 | Details Get a Quote |
