| Gene Information | |
|---|---|
| Gene Name | BFSP2 |
| Organism | Homo sapiens (Human) |
| Gene Length | 415 |
| Protein Names | Phakinin (49 kDa cytoskeletal protein) (Beaded filament structural protein 2) (Lens fiber cell beaded filament protein CP 47) (CP47) (Lens fiber cell beaded filament protein CP 49) (CP49) (Lens intermediate filament-like light) (LIFL-L) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 544 ( ENSG00000170819 ) |
| Evolutionary Stage | Vertebrata |
| AlphaFoldDB | Q13515 |
| Gene Card | BFSP2 |
| Uniprot ID | Q13515 |
| Pfam | PF00038 |
| In ASD | no |
| Allosteric Prediction | no (-1.932895956) |
| Ortholog in Animals | Alpaca_ BFSP2 ( ortholog_one2one ) Dog_ BFSP2 ( ortholog_one2one ) GuineaPig_ BFSP2 ( ortholog_one2one ) Macaque_ BFSP2 ( ortholog_one2one ) Mouse_ Bfsp2 ( ortholog_one2one ) Pig_ BFSP2 ( ortholog_one2one ) Rat_ Bfsp2 ( ortholog_one2one ) Rabbit_ BFSP2 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | VIM, KRT12, KRT74, INA, NEFM, KRT39, SYNM, KRT13, KRT80, KRT33B, KRT31, KRT77, KRT26, KRT32, KRT73, KRT28, KRT37, KRT38, KRT6B, KRT6A, KRT6C, KRT72, KRT20, KRT5, KRT222, LMNB1, PRPH, KRT23, KRT4, KRT36, KRT7, KRT34, KRT75, KRT25, KRT76, KRT35, KRT78, KRT24, KRT40, KRT86, KRT83, KRT81, NES, DES, KRT2, KRT9, KRT27, KRT3, KRT84, LMNB2, KRT33A, KRT82, KRT14, KRT16, KRT85, LMNA, KRT8, GFAP, KRT17, KRT79, KRT71, KRT1, KRT19, LMNTD1, NEFL, KRT15, KRT18, KRT10 |
| Tissue | NA |
| Tissue Specificity | Lens. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs121908938 rs104893685 rs774824478 |
| Subcellular location [CC] | Cell membrane {ECO:0000250|UniProtKB:Q28177}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q28177}; Cytoplasmic side {ECO:0000250|UniProtKB:Q28177}. Cytoplasm {ECO:0000250|UniProtKB:D3ZER2}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q28177}. Cytoplasm, cell cortex {ECO:0000250|UniProtKB:Q28177}. Note=Expressed primarily at the plasma membrane in peripheral lens fiber cells, however also localizes to the cytoplasm in mature lens fiber cells. {ECO:0000250|UniProtKB:Q28177}. |
| Mouse PG classification | HPG |
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