CSMD2 Gene Summary [Human]
The protein encoded by this gene is thought to be involved in the control of complement cascade of the immune system. Defects in this gene have been associated with schizophrenia. This gene may act as a tumor suppressor for colorectal cancer. [provided by RefSeq, Jan 2020]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | CSMD2 |
| Official Name | CUB and Sushi multiple domains 2 [Source:HGNC Symbol;Acc:HGNC:19290] |
| Ensembl ID | ENSG00000121904 |
| Bio databases IDs | |
| Aliases | CUB and Sushi multiple domains 2 |
| Synonyms | CUB and Sushi multiple domains 2, dJ1007G16.1, dJ1007G16.2, dJ947L8.1, Gm139, RGD1565728 |
| 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 CSMD2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- CCP
- CUB
- Sushi repeat (SCR repeat)
- SUSHI repeat
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- acute myeloid leukemia
- COVID-19
- endometrial carcinoma
- epithelial endometrial cancer
- attention deficit hyperactivity disorder
- Wilms tumor
- colorectal adenoma
- colorectal adenoma formation
- non-melanoma skin cancer
regulated by
- BLM
- pidnarulex
- 3,5-dihydroxyphenylglycine
role in cell
- assembly
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
- glutaminergic synapse
- synaptic membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CSMD2 gene, providing context for its role in the cell.
Cellular Component
Where in the cell the gene product is active
- plasma membrane