SAMD9 Gene Summary [Human]
This gene encodes a sterile alpha motif domain-containing protein. The encoded protein localizes to the cytoplasm and may play a role in regulating cell proliferation and apoptosis. Mutations in this gene are the cause of normophosphatemic familial tumoral calcinosis. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jul 2010]
Details
| Type | Protein Coding |
| Official Symbol | SAMD9 |
| Official Name | sterile alpha motif domain containing 9 [Source:HGNC Symbol;Acc:HGNC:1348] |
| Ensembl ID | ENSG00000205413 |
| Bio databases IDs | |
| Aliases | sterile alpha motif domain containing 9 |
| Synonyms | C7ORF5, DRIF1, FLJ20073, M7MLS2, MIRAGE, NFTC, OEF1, OEF2, RGD1563091, sterile alpha motif domain containing 9, sterile α motif domain containing 9 |
| 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 SAMD9 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Sterile alpha motif
- SAM (Sterile alpha motif )
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- flu
- COVID-19
- hereditary disorder
- breast cancer
- monosomy 7 myelodysplasia and leukemia syndrome type 2
- normophosphatemic familial tumoral calcinosis
- MIRAGE syndrome
- B-cell non-Hodgkin lymphoma
- B-cell non-Hodgkin disease
- sepsis
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
- intracellular membrane-bounded organelle
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SAMD9 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- innate immune response
- endosomal vesicle fusion
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- intracellular membrane-bounded organelle
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding