INF2 Gene Summary [Human]
This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010]
Details
| Type | Processed Transcript |
| Official Symbol | INF2 |
| Official Name | inverted formin 2 [Source:HGNC Symbol;Acc:HGNC:23791] |
| Ensembl ID | ENSG00000203485 |
| Bio databases IDs | |
| Aliases | inverted formin 2 |
| Synonyms | 2610204M08Rik, C14orf151, C14orf173, CMTDIE, EG629699, FLJ22056, FSGS5, inverted formin 2, inverted formin, FH2 and WH2 domain containing, LOC107984678, pp9484, RGD1308350 |
| 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 INF2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Formin Homology 2 Domain
- formin homology domain 1
- Alpha mannosidase middle domain
- Diaphanous FH3 Domain
- Wiskott Aldrich syndrome homology region 2
- WH2
- Diaphanous inhibitory domain
- diaphanous autoregulatory domain
- protein binding
- Diaphanous GTPase-binding Domain
- verproline homology domain
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
- organismal death
- kidney disease
- focal segmental glomerulosclerosis type 5
- Charcot-Marie-Tooth disease dominant intermediate type E
- nephrosis
- endometrial cancer
- global developmental delay with intellectual disability
- multiple system atrophy
- infection by Influenza A virus subtype H1N1
role in cell
- growth
- formation in
- accumulation in
- quantity
- proliferation
- activation in
- formation
- migration
- polymerization
- depolymerization
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
- actin patch
- pericentrosomal region
- cell periphery
- perinuclear region
- filamentous network
- Golgi Apparatus
- Endoplasmic Reticulum
- microtubules
- endoplasmic reticulum membrane
- Z line
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human INF2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- actin filament polymerization
- regulation of mitochondrial fission
Cellular Component
Where in the cell the gene product is active
- perinuclear region of cytoplasm
- actin filament
Molecular Function
What the gene product does at the molecular level
- protein binding
- actin binding
- small GTPase binding