| Gene Information | |
|---|---|
| Gene Name | DGSH |
| Organism | Homo sapiens (Human) |
| Gene Length | 476 |
| Protein Names | Splicing factor ESS-2 homolog (DiGeorge syndrome critical region 13) (DiGeorge syndrome critical region 14) (DiGeorge syndrome protein H) (DGS-H) (Protein ES2) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q96DF8 |
| Gene Card | ESS2 |
| Uniprot ID | Q96DF8 |
| Pfam | PF09751 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Highly expressed in heart, brain and skeletal muscle. Detected at low levels in placenta. {ECO:0000269|PubMed:8776594}. |
| Pharmacological Animal Models | 0.020968(Chimpanzee);0.001000(Mouse);0.001823(Rat);0.033333(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs113904207 rs17743887 rs712965 |
| Subcellular location [CC] | Nucleus {ECO:0000250|UniProtKB:P34420}. |
| Mouse PG classification | NA |
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