| Gene Information | |
|---|---|
| Gene Name | WBSCR18 |
| Organism | Homo sapiens (Human) |
| Gene Length | 226 |
| Protein Names | DnaJ homolog subfamily C member 30, mitochondrial (Williams-Beuren syndrome chromosomal region 18 protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q96LL9 |
| Gene Card | DNAJC30 |
| Uniprot ID | Q96LL9 |
| Pfam | PF00226 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in brain, heart, kidney, liver, lung, spleen, stomach and testis (PubMed:12073013). Highly expressed in the brain (PubMed:30318146). In the neocortex, expressed in most, if not all, glutamatergic excitatory projection neurons (pyramidal) and many interneurons, with the strongest signal noticeably in large pyramidal neurons of layer 3C. Also present in pyramidal neurons of layer 3C PNs of the superior temporal cortex, as well as in pyramidal neurons (Betz cells) of the layer 5B primary motor cortex (at protein level) (PubMed:30318146). {ECO:0000269|PubMed:12073013, ECO:0000269|PubMed:30318146}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 2YUA (NMR - ) |
| DBSNP | rs1128349 rs61732167 rs13244259 |
| Subcellular location [CC] | Mitochondrion inner membrane {ECO:0000269|PubMed:30318146}; Single-pass membrane protein {ECO:0000255}. |
| Mouse PG classification | NA |
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