| Gene Information | |
|---|---|
| Gene Name | DEF6 |
| Organism | Homo sapiens (Human) |
| Gene Length | 631 |
| Protein Names | Differentially expressed in FDCP 6 homolog (DEF-6) (IRF4-binding protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 680 ( ENSG00000023892 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | Q9H4E7 |
| Gene Card | DEF6 |
| Uniprot ID | Q9H4E7 |
| Pfam | PF00169 |
| In ASD | no |
| Allosteric Prediction | no (-0.641087529) |
| Ortholog in Animals | Alpaca_ DEF6 ( ortholog_one2one ) Dog_ DEF6 ( ortholog_one2one ) GuineaPig_ DEF6 ( ortholog_one2one ) Macaque_ DEF6 ( ortholog_one2one ) Mouse_ Def6 ( ortholog_one2one ) Pig_ DEF6 ( ortholog_one2one ) Rat_ Def6 ( ortholog_one2one ) Rabbit_ DEF6 ( ortholog_one2one ) |
| Ohnologs | SWAP70 |
| Paralogs | SWAP70, PLEKHD1 |
| Tissue | NA |
| Tissue Specificity | Broadly expressed in the immune system. Highly expressed in T cells (PubMed:31308374). {ECO:0000269|PubMed:12651066, ECO:0000269|PubMed:31308374}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.002101(Rat);0.022222(Rabbit) |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs2395617 rs9296146 |
| Subcellular location [CC] | Cytoplasm {ECO:0000269|PubMed:15023524}. Cell membrane {ECO:0000269|PubMed:15023524, ECO:0000305|PubMed:12651066}. Nucleus {ECO:0000269|PubMed:15023524}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:15023524}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:15023524}. Cell projection, filopodium {ECO:0000269|PubMed:15023524}. Note=Recruited to the plasma membrane upon binding phosphatidylinositol 3,4,5-trisphosphate (PubMed:15023524). Binds to actin filaments (PubMed:15023524). {ECO:0000269|PubMed:15023524}. |
| Mouse PG classification | NA |
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