| Gene Information | |
|---|---|
| Gene Name | KIAA2004 |
| Organism | Homo sapiens (Human) |
| Gene Length | 1589 |
| Protein Names | Sterile alpha motif domain-containing protein 9 (SAM domain-containing protein 9) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q5K651 |
| Gene Card | SAMD9 |
| Uniprot ID | Q5K651 |
| Pfam | PF07647 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Widely expressed. Very low levels are detected in skeletal muscle. Not detected in brain. Down-regulated in aggressive fibromatosis, as well as in breast and colon cancers. Up-regulated in fibroblasts from patients with normophosphatemic tumoral calcinosis (NFTC). {ECO:0000269|PubMed:16960814, ECO:0000269|PubMed:17407603}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 7KSP (X-ray 2.80A ) |
| DBSNP | rs6969691 rs10239435 rs10279499 rs1554336981 rs121918554 |
| Subcellular location [CC] | Cytoplasm {ECO:0000269|PubMed:16960814, ECO:0000269|PubMed:17407603, ECO:0000269|PubMed:25428864, ECO:0000269|PubMed:28157624}. |
| Mouse PG classification | NA |
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