FRMD4A Gene Summary [Human]
This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer's disease, and also with nicotine dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Details
| Type | Protein Coding |
| Official Symbol | FRMD4A |
| Official Name | FERM domain containing 4A [Source:HGNC Symbol;Acc:HGNC:25491] |
| Ensembl ID | ENSG00000151474 |
| Bio databases IDs | |
| Aliases | FERM domain containing 4A |
| Synonyms | 2700017I06Rik, 5330420J21, bA295P9.4, C230040M21Rik, CCAFCA, FERM domain containing 4A, FRMD4, Gm13190, mKIAA1294, RGD1309050 |
| 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 FRMD4A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Cytohesin Ubiquitin Protein Inducing Domain
- FERM central domain
- Band 4.1 homologues
- Ubl1_cv_Nsp3_N-like
- protein binding activity, bridging
- Pleckstrin homology-like domain
- FERM domain B-lobe
- FERM C-terminal PH-like domain
- FERM N-terminal domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- osteoarthritis
- epithelial cancer
- restless legs syndrome
- COVID-19
- prostate cancer
- non-insulin-dependent diabetes mellitus
- Takayasu arteritis
- idiopathic scoliosis
- acute myeloid leukemia
- Alzheimer disease
role in cell
- binding 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.
- Plasma Membrane
- Cytoplasm
- tight junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FRMD4A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of protein secretion
- establishment of epithelial cell polarity
- positive regulation of protein secretion
Cellular Component
Where in the cell the gene product is active
- tight junction
- adherens junction
- cytoskeleton
- cytoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding, bridging