| Gene Information | |
|---|---|
| Gene Name | NBEA |
| Organism | Homo sapiens (Human) |
| Gene Length | 2946 |
| Protein Names | Neurobeachin (Lysosomal-trafficking regulator 2) (Protein BCL8B) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 680 ( ENSG00000172915 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | NA |
| Gene Card | NBEA |
| Uniprot ID | Q8NFP9 |
| Pfam | PF02138; PF06469; PF15787; PF20426; PF20425; PF14844 |
| In ASD | no |
| Allosteric Prediction | no (-1.176892569) |
| Ortholog in Animals | Alpaca_ NBEA ( ortholog_one2one ) GuineaPig_ NBEA ( ortholog_one2one ) Macaque_ NBEA ( ortholog_one2one ) Mouse_ Nbea ( ortholog_one2one ) Pig_ NBEA ( ortholog_one2one ) Rat_ Nbea ( ortholog_one2one ) Rabbit_ NBEA ( ortholog_one2one ) |
| Ohnologs | LRBA |
| Paralogs | WDFY4, LYST, WDFY3, NBEAL1, NBEAL2, LRBA, NSMAF |
| Tissue | NA |
| Tissue Specificity | Predominant in many brain structures. Also expressed at medium levels in spleen, thymus, prostate, testis and ovary. Low level expression is seen in heart, kidney, pancreas, skeletal muscle and intestine. {ECO:0000269|PubMed:12160729}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 1MI1 (X-ray 2.90A ) |
| DBSNP | rs5011295 rs869312667 rs11538677 |
| Subcellular location [CC] | Cytoplasm {ECO:0000250}. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. |
| Mouse PG classification | NA |
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