Version 5.4
| Bos taurus Gene: BFSP2 | |||||||||
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| Summary | |||||||||
| InnateDB Gene | IDBG-639005.3 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | BFSP2 | ||||||||
| Gene Name | phakinin | ||||||||
| Synonyms | |||||||||
| Species | Bos taurus | ||||||||
| Ensembl Gene | ENSBTAG00000017659 | ||||||||
| Encoded Proteins |
phakinin
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| Protein Structure | |||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||
| Entrez Gene | |||||||||
| Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000170819:
More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009] More than 99%% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009] |
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| Gene Information | |||||||||
| Type | Protein coding | ||||||||
| Genomic Location | Chromosome 1:137030485-137107221 | ||||||||
| Strand | Reverse strand | ||||||||
| Band | |||||||||
| Transcripts |
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| Interactions | |||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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| Gene Ontology | |||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||
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Species
Homo sapiens
Mus musculus
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Gene ID
Gene Order
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| Cross-References | |||||||||
| SwissProt | |||||||||
| TrEMBL | F1MR92 | ||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | 281645 | ||||||||
| UniGene | |||||||||
| RefSeq | |||||||||
| HUGO | |||||||||
| OMIM | |||||||||
| CCDS | |||||||||
| HPRD | |||||||||
| IMGT | |||||||||
| EMBL | DAAA02003076 DAAA02003077 | ||||||||
| GenPept | |||||||||
| RNA Seq Atlas | 281645 | ||||||||