MCF2L Gene Summary [Human]
This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Details
| Type | Protein Coding |
| Official Symbol | MCF2L |
| Official Name | MCF.2 cell line derived transforming sequence like [Source:HGNC Symbol;Acc:HGNC:14576] |
| Ensembl ID | ENSG00000126217 |
| Bio databases IDs | |
| Aliases | MCF.2 cell line derived transforming sequence like |
| Synonyms | Ak082849, ARHGEF14, C130040G20Rik, DBS, LOC100361711, MCF.2 cell line derived transforming sequence-like, mcf.2 transforming sequence-like, mKIAA0362, OST |
| 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 MCF2L often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain in homologues of a S
- SPEC
- Phosphatidylinositol binding domain
- protein binding
- Pleckstrin homology-like domain
- RhoGEF domain
- phosphatidylinositol binding
- Src Homology 3 domain superfamily
- Spectrin repeats
- RhoGEF
- Divergent CRAL/TRIO domain
- guanyl-nucleotide exchange factor
- Spectrin repeat
- PH domain
- Dbl homology domain
- Sec14 domain
Pathways
Biological processes and signaling networks where the MCF2L 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
- osteoarthritis
- cardiovascular disorder
- coronary artery disease
- ischemic stroke
- bladder cancer
- renal cell cancer
- bladder carcinoma
- dementia
- appendicitis
- abdominal aortic aneurysm
role in cell
- migration
- proliferation
- apoptosis
- activation in
- binding in
- colony formation
- tyrosine phosphorylation in
- formation
- cell viability
- transformation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- endomembrane system
- perinuclear region
- cellular membrane
- vesicles
- Golgi Apparatus
- cytosol
- cytoplasmic face of plasma membrane
- lamellipodia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MCF2L gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of Rho protein signal transduction
- regulation of small GTPase mediated signal transduction
- intracellular signal transduction
Cellular Component
Where in the cell the gene product is active
- extracellular space
- cytoplasm
- endomembrane system
- cytosol
- extrinsic to membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- guanyl-nucleotide exchange factor activity
- phosphatidylinositol binding