| Gene Information | |
|---|---|
| Gene Name | C20orf48 |
| Organism | Homo sapiens (Human) |
| Gene Length | 570 |
| Protein Names | Pantothenate kinase 2, mitochondrial (hPanK2) (EC 2.7.1.33) (Pantothenic acid kinase 2) [Cleaved into: Pantothenate kinase 2, mitochondrial intermediate form (iPanK2); Pantothenate kinase 2, mitochondrial mature form (mPanK2)] |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q9BZ23 |
| Gene Card | PANK2 |
| Uniprot ID | Q9BZ23 |
| Pfam | PF03630 |
| In ASD | yes |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in the brain (at protein level) (PubMed:15659606, PubMed:17825826). Ubiquitous (PubMed:11479594). Highly expressed in the testis (PubMed:17825826). Expressed in the umbilical vein endothelial cells (HUVEC) (PubMed:30221726). {ECO:0000269|PubMed:11479594, ECO:0000269|PubMed:15659606, ECO:0000269|PubMed:17825826, ECO:0000269|PubMed:30221726}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 5E26 (X-ray 2.14A ) |
| DBSNP | rs71647827 rs71647828 rs3737084 rs765679726 rs137852965 rs137852961 rs137852966 rs1348762206 rs137852962 rs974575417 rs768230831 rs137852964 rs746484727 rs754521581 rs759223327 rs752078407 rs750176786 rs1064794317 rs1012947103 rs137852963 rs759332123 rs775459398 rs767653843 rs137852959 rs137852967 rs1324077575 rs41279408 |
| Subcellular location [CC] | [Isoform 1]: Mitochondrion {ECO:0000269|PubMed:12554685, ECO:0000269|PubMed:15659606, ECO:0000269|PubMed:17825826}. Mitochondrion intermembrane space {ECO:0000269|PubMed:23152917}. Nucleus {ECO:0000269|PubMed:23152917}. Note=Localizes predominantly to the mitochondria and to a lesser extent to the nucleus. Found in both the mitochondria and the nucleus throughout the cell cycle, with the exception of the G2/M phase when it is restricted to mitochdondria. {ECO:0000269|PubMed:23152917}.; [Isoform 2]: Cytoplasm {ECO:0000305}.; [Isoform 3]: Cytoplasm {ECO:0000269|PubMed:12554685, ECO:0000305}.; [Isoform 4]: Cytoplasm {ECO:0000305}. |
| Mouse PG classification | NA |
| click here to return to the previous page | |