Gene Symbol Report 
BFSP2
| Approved Symbol |
BFSP2 |
|---|---|
| Approved Name |
beaded filament structural protein 2, phakinin |
| HGNC ID |
HGNC:1041 |
| Previous Symbols & Names |
- |
| Synonyms |
CP47, CP49, LIFL-L, phakinin |
| Locus Type |
gene with protein product |
| Chromosomal Location |
3q22.1 |
| GENE FAMILY |
Intermediate filaments type VI, eye lens intermediate filaments |
|
|---|---|---|
| SPECIALIST DATABASE |
Intermediate Filament DB D |
|
| HOMOLOGS |
MGI:1333828 D Mouse Symbol: Bfsp2 HCOP D TreeFam D |
|
| NUCLEOTIDE SEQUENCES |
GenBank:U48224 EMBL-Bank DDBJ C RefSeq:NM_003571 D CCDS:CCDS33859.1 C Vega:OTTHUMG00000159719 C |
|
| GENE RESOURCES |
Entrez Gene:8419 C Ensembl:ENSG00000170819 C UCSC:uc003epn.1 D Vega:OTTHUMG00000159719 C |
NCBI Sequence Viewer Ensembl Genome Browser UCSC Genome Browser Vega Genome Browser |
| PROTEIN RESOURCES |
UniProtKB:Q13515 D InterPro D |
|
| CLINICAL RESOURCES |
OMIM D GeneTests D Orphanet D DECIPHER D COSMIC D LSDB:Human Intermediate Filament Mutation Database C Genetic Testing Registry C |
|
| OTHER DATABASE LINKS |
GENATLAS D GeneCards D GOPubmed D H-InvDB D QuickGO D Reactome D WikiGenes D |
|
