MED13L Gene Summary [Human]
The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[provided by RefSeq, Jul 2010]
Details
| Type | Protein Coding |
| Official Symbol | MED13L |
| Official Name | mediator complex subunit 13L [Source:HGNC Symbol;Acc:HGNC:22962] |
| Ensembl ID | ENSG00000123066 |
| Bio databases IDs | |
| Aliases | mediator complex subunit 13L |
| Synonyms | 2210413I17Rik, 6330591G05Rik, 9030618F05Rik, KIAA1025, mediator complex subunit 13L, mediator complex subunit 13-like, mKIAA1025, MRFACD, PROSIT240, THRAP2, TRAP240L |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MED13L often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription co-activator
- MID domain of medPIWI
- Mediator complex subunit 13 C-terminal domain
Pathways
Biological processes and signaling networks where the MED13L gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- d-transposition of the great arteries
- mental retardation and distinctive facial features with or without cardiac defects
- pervasive developmental disorder
- mental retardation and distinctive facial features without cardiac defects
- global developmental delay
- mental retardation
- mental retardation and distinctive facial features with cardiac defects
- neurodevelopmental disorder
- chromatinopathy
role in cell
- proliferation
- expression in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MED13L gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- mediator complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- transcription cofactor activity