| Gene Information | |
|---|---|
| Gene Name | EFE2 |
| Organism | Homo sapiens (Human) |
| Gene Length | 262 |
| Protein Names | Tafazzin (Taz) (EC 2.3.1.-) (Protein G4.5) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q16635 |
| Gene Card | TAFAZZIN |
| Uniprot ID | Q16635 |
| Pfam | PF01553 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | High levels in cardiac and skeletal muscle. Up to 10 isoforms can be present in different amounts in different tissues. Most isoforms are ubiquitous. Isoforms that lack the N-terminus are found in leukocytes and fibroblasts, but not in heart and skeletal muscle. Some forms appear restricted to cardiac and skeletal muscle or to leukocytes. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs1557191125 rs104894942 rs104894937 rs132630277 rs387907218 |
| Subcellular location [CC] | Mitochondrion outer membrane {ECO:0000269|PubMed:26908608}; Peripheral membrane protein {ECO:0000305|PubMed:26908608}; Intermembrane side {ECO:0000305|PubMed:26908608}. Mitochondrion inner membrane {ECO:0000269|PubMed:26908608}; Peripheral membrane protein {ECO:0000305|PubMed:26908608}; Intermembrane side {ECO:0000305|PubMed:26908608}.; [Isoform 1]: Mitochondrion membrane {ECO:0000269|PubMed:19700766, ECO:0000269|PubMed:29129703}.; [Isoform 2]: Cytoplasm {ECO:0000305}.; [Isoform 3]: Mitochondrion membrane {ECO:0000269|PubMed:19700766, ECO:0000269|PubMed:29129703}.; [Isoform 5]: Mitochondrion membrane {ECO:0000269|PubMed:19700766}.; [Isoform 6]: Cytoplasm {ECO:0000305}.; [Isoform 7]: Mitochondrion membrane {ECO:0000269|PubMed:19700766}.; [Isoform 8]: Cytoplasm {ECO:0000305}.; [Isoform 9]: Cytoplasm {ECO:0000305}. |
| Mouse PG classification | NA |
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