SAMD9
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| sterile alpha motif domain containing 9 | MIM:610456 | Ensembl:ENSG00000205413 | HGNC:HGNC:1348 | PA25948 | 7q21.2 |
GO terms in SAMD9
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005829 | cytosol |
| CC | IDA | GO:0043231 | intracellular membrane-bounded organelle |
| BP | IDA | GO:0034058 | endosomal vesicle fusion |
Gene expression in normal tissue: SAMD9
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SAMD9
| Database | Pathway ID | Pathway Des. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SAMD9
CLASSFICATION
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