ITSN2 Gene Summary [Human]
This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. [provided by RefSeq, Jan 2017]
Details
| Type | Retained Intron |
| Official Symbol | ITSN2 |
| Official Name | intersectin 2 [Source:HGNC Symbol;Acc:HGNC:6184] |
| Ensembl ID | ENSG00000198399 |
| Bio databases IDs | |
| Aliases | intersectin 2, SH3 domain protein 1B, SH3P18-like WASP associated protein |
| Synonyms | Ese2, intersectin 2, mKIAA1256, PRO2015, SH3D1B, SH3P18, SWA, SWAP |
| 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 ITSN2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Coiled-coil region of CCDC155 or KASH
- Nuf2, DHR10-like domain
- Arginine and glutamate-rich 1
- coiled-coil domain
- Laminin Domain I
- Remorin, C-terminal region
- Dbl homology domain
- C2 domain
- Mitotic checkpoint protein
- Ezrin/radixin/moesin, alpha-helical domain
- Hyaluronan mediated motility receptor N-terminal
- EF-hand domain pair
- EFh
- protein binding
- Pleckstrin homology-like domain
- Calcium binding and coiled-coil domain (CALCOCO1) like
- Spindle pole body component BBP1, C-terminal
- RhoGEF domain
- Src Homology 3 domain superfamily
- Domain of unknown function (DUF4659)
- RhoGEF
- Fez1
- Apg6 coiled-coil region
- MAP7 (E-MAP-115) family
- SynN
- Trichohyalin-plectin-homology domain
- Eps15 homology domain
- Pleckstrin homology domain
- Protein kinase C conserved region 2 (CalB)
- Coiled-coil domain-containing protein 66
Pathways
Biological processes and signaling networks where the ITSN2 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
- vascular dementia
- Alzheimer disease
- schizophrenia
- asthma
- endometriosis
- Waldenström macroglobulinemia
- infection by Dengue virus 2
role in cell
- extension
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
- centrosome
- cytosol
- endocytotic vesicle
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ITSN2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell differentiation
- endosomal transport
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- centrosome
- extracellular vesicular exosome
- cytoplasm
- cytosol
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- calcium ion binding
- guanyl-nucleotide exchange factor activity
- binding, bridging