| Gene Information | |
|---|---|
| Gene Name | EVC |
| Organism | Homo sapiens (Human) |
| Gene Length | 992 |
| Protein Names | EvC complex member EVC (DWF-1) (Ellis-van Creveld syndrome protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 544 ( ENSG00000072840 ) |
| Evolutionary Stage | Vertebrata |
| AlphaFoldDB | P57679 |
| Gene Card | EVC |
| Uniprot ID | P57679 |
| Pfam | NA |
| In ASD | no |
| Allosteric Prediction | no (-0.941725352) |
| Ortholog in Animals | Alpaca_ EVC ( ortholog_one2one ) Dog_ EVC ( ortholog_one2one ) GuineaPig_ EVC ( ortholog_one2one ) Macaque_ EVC ( ortholog_one2one ) Mouse_ Evc ( ortholog_one2one ) Pig_ EVC ( ortholog_one2one ) Rat_ Evc ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | EVC2 |
| Tissue | NA |
| Tissue Specificity | Found in the developing vertebral bodies, ribs, upper and lower limbs, heart, kidney, lung. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs2291157 rs16837598 rs1017946059 rs6414624 rs121908426 rs28483498 rs183114391 rs35953626 rs2302075 rs1383180 rs1373632260 rs2279252 |
| Subcellular location [CC] | Cell membrane {ECO:0000250|UniProtKB:P57680}; Single-pass membrane protein {ECO:0000250|UniProtKB:P57680}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:P57680}. Cell projection, cilium {ECO:0000250|UniProtKB:P57680}. Cell projection, cilium membrane {ECO:0000250|UniProtKB:P57680}. Note=EVC2 is required for the localization of EVC at the base of primary cilia. The EvC complex localizes at the base of cilia in the EvC zone of primary cilia in a EFCAB7-dependent manner. {ECO:0000250|UniProtKB:P57680}. |
| Mouse PG classification | HPG |
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