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MIRAGE
mediator complex subunit 12
Summary
- Gene Symbol
-
- MED12
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Acetylation
- Activator
- Alternative splicing
- Direct protein sequencing
- Disease variant
- Intellectual disability
- Methylation
- Nucleus
- Phosphoprotein
- Reference proteome
- Repressor
- Transcription regulation
- Proteins
| UniProt | Protein Name |
|---|---|
| Q93074 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| neural tube closure | ||
| endoderm development | ||
| heart development | ||
| oligodendrocyte development | ||
| Schwann cell development |
GO Hierarchy
biological process
metabolic process [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of metabolic process [inference]
regulation of biosynthetic process [inference]
positive regulation of biosynthetic process [inference]
regulation of cellular biosynthetic process [inference]
positive regulation of metabolic process [inference]
regulation of cellular metabolic process [inference]
regulation of nucleobase-containing compound metabolic process [inference]
positive regulation of cellular metabolic process [inference]
regulation of cellular biosynthetic process [inference]
regulation of nitrogen compound metabolic process [inference]
regulation of macromolecule metabolic process [inference]
regulation of macromolecule biosynthetic process [inference]
positive regulation of macromolecule metabolic process [inference]
regulation of RNA metabolic process [inference]
regulation of primary metabolic process [inference]
positive regulation of biological process [inference]
positive regulation of metabolic process [inference]
positive regulation of cellular process [inference]
regulation of cellular process [inference]
regulation of cellular metabolic process [inference]
regulation of nucleobase-containing compound metabolic process [inference]
positive regulation of cellular metabolic process [inference]
regulation of cellular biosynthetic process [inference]
positive regulation of cellular process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| ubiquitin ligase complex | ||
| nucleus | ||
| nucleoplasm | ||
| membrane | ||
| mediator complex |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | ||
| chromatin binding | ||
| transcription coregulator activity | ||
| transcription coactivator activity | ||
| transcription coactivator activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- mediator of RNA polymerase II transcription subunit 12
- Functional Category
-
- K: Transcription
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| InterPro |
|---|
| Mediator complex, subunit Med12 |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0080985 | syndromic X-linked intellectual disorder Lujan-Fryns-type | |
| DOID:1470 | major depressive disorder | |
| DOID:14711 | FG syndrome | |
| DOID:1967 | leiomyosarcoma | |
| DOID:591 | phobic disorder |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 9968 | Xenbase:XB-GENE-985871 | ||
| 59024 | MOUSE66647 | ||
| 449626 | PANTR46236 | ||
| 520974 | BOVIN36915 | ||
| 566632 | DANRE07485 | ||
| 679693 | RATNO45381 | ||
| 696791 | MACMU48327 | ||
| 850442 | Xenbase:XB-GENE-985871 | ||
| 100056909 | HORSE43478 | ||
| 100127097 | PONAB37545 |
