| Gene Information | |
|---|---|
| Gene Name | SMCR7 |
| Organism | Homo sapiens (Human) |
| Gene Length | 454 |
| Protein Names | Mitochondrial dynamics protein MID49 (Mitochondrial dynamics protein of 49 kDa) (Mitochondrial elongation factor 2) (Smith-Magenis syndrome chromosomal region candidate gene 7 protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q96C03 |
| Gene Card | MIEF2 |
| Uniprot ID | Q96C03 |
| Pfam | PF20266 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in all tissues tested with highest expression in heart and skeletal muscle. {ECO:0000269|PubMed:11997338}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.005990(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 5WP9 (EM 4.22A ) |
| DBSNP | rs12603700 rs3751981 |
| Subcellular location [CC] | Mitochondrion outer membrane {ECO:0000269|PubMed:21508961}; Single-pass membrane protein {ECO:0000269|PubMed:21508961}. Note=Colocalizes with DNM1L at mitochondrial membrane. Forms foci and rings around mitochondria. |
| Mouse PG classification | NA |
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