| Gene Information | |
|---|---|
| Gene Name | LBN |
| Organism | Homo sapiens (Human) |
| Gene Length | 1308 |
| Protein Names | Limbin (Ellis-van Creveld syndrome protein 2) (EVC2) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q86UK5 |
| Gene Card | EVC2 |
| Uniprot ID | Q86UK5 |
| Pfam | PF12297 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Found in the heart, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:12468274}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs4689278 rs137852926 rs730469 rs137852928 |
| Subcellular location [CC] | Cell membrane {ECO:0000250|UniProtKB:Q8K1G2}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q8K1G2}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q8K1G2}. Cell projection, cilium {ECO:0000250|UniProtKB:Q8K1G2}. Cell projection, cilium membrane {ECO:0000250|UniProtKB:Q8K1G2}. Nucleus {ECO:0000250|UniProtKB:Q8K1G2}. Note=The EvC complex localizes at the base of cilia in the EvC zone of primary cilia in a EFCAB7-dependent manner. {ECO:0000250|UniProtKB:Q8K1G2}. |
| Mouse PG classification | NA |
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