FERMT3 Gene Summary [Human]
Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in the regulation of hemostasis and thrombosis. This protein may also help maintain the membrane skeleton of erythrocytes. Mutations in this gene cause the autosomal recessive leukocyte adhesion deficiency syndrome-III (LAD-III). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2010]
Details
| Type | Protein Coding |
| Official Symbol | FERMT3 |
| Official Name | fermitin family member 3 [Source:HGNC Symbol;Acc:HGNC:23151] |
| Ensembl ID | ENSG00000149781 |
| Bio databases IDs | |
| Aliases | fermitin family member 3, FERM domain containing kindlin 3, kindlin-3, UNC-112 related protein 2 |
| Synonyms | FERM domain containing kindlin 3, fermitin family member 3, KIND3, KINDLIN-3, MIG-2, MIG2B, RGD1310168, UNC112C, URP2, URP2SF |
| 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 FERMT3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- FERM subdomain f3
- pleckstrin Homology binding region
- lipid binding
- Ubl1_cv_Nsp3_N-like
- integrin binding
- PH domain
- enzyme
- protein binding
- Pleckstrin homology-like domain
- Kindlin-2 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
- metastasis
- neoplasia
- leukocyte adhesion deficiency III
- attention deficit hyperactivity disorder
- androgenic alopecia
- bleeding disorder
- essential thrombocythemia
- leukocyte adhesion deficiency
- major depression
- organismal death
role in cell
- proliferation
- activation in
- production in
- quantity
- migration
- cell spreading
- cytotoxicity
- recruitment
- formation
- aggregation
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
- Extracellular Space
- cellular membrane
- podosomes
- alpha granules
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FERMT3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell-matrix adhesion
- integrin-mediated signaling pathway
- substrate adhesion-dependent cell spreading
- regulation of cell-cell adhesion mediated by integrin
- platelet aggregation
- leukocyte cell-cell adhesion
- integrin activation
- positive regulation of cell migration
Cellular Component
Where in the cell the gene product is active
- platelet alpha granule lumen
- extracellular vesicular exosome
- membrane
- cell-substrate junction
- extracellular region
- cell projection
- podosome
Molecular Function
What the gene product does at the molecular level
- integrin binding
- lipid binding