ITM2C Gene Summary [Human]
Enables amyloid-beta binding activity. Involved in negative regulation of neuron projection development and neuron differentiation. Located in several cellular components, including Golgi apparatus; lysosome; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | ITM2C |
| Official Name | integral membrane protein 2C [Source:HGNC Symbol;Acc:HGNC:6175] |
| Ensembl ID | ENSG00000135916 |
| Bio databases IDs | |
| Aliases | integral membrane protein 2C, BRICHOS domain containing 2C |
| Synonyms | 3110038L02Rik, BRI3, BRICD2C, Cerebral protein-14, E25, E25C, hucep-14, integral membrane protein 2C, Integral membrane protein 3, ITM3 |
| 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 ITM2C often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ATP binding
- protein binding
- BRICHOS domain
- beta-amyloid binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- celiac disease
- colorectal adenoma
- colorectal adenoma formation
- androgenic alopecia
- angioimmunoblastic T-cell lymphoma
- T-cell non-Hodgkin disease
- mature T-cell neoplasia
- colorectal cancer
regulates
role in cell
- production in
- development
- differentiation
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
- perinuclear region
- cellular membrane
- Plasma Membrane
- lysosome
- Golgi Apparatus
- synaptic vesicles
- neurites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ITM2C gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of neuron projection development
- neuron differentiation
- positive regulation of extrinsic apoptotic signaling pathway
- negative regulation of amyloid precursor protein biosynthetic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- perinuclear region of cytoplasm
- Golgi apparatus
- lysosomal membrane
- plasma membrane
- lysosome
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- beta-amyloid binding