Identity
HGNC
LOCATION
3q22.1
LOCUSID
ALIAS
CP47,CP49,CTRCT12,LIFL-L,PHAKOSIN
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 8419
MIM: 603212
HGNC: 1041
Ensembl: ENSG00000170819
Variants:
dbSNP: 8419
ClinVar: 8419
TCGA: ENSG00000170819
COSMIC: BFSP2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000170819 | ENST00000302334 | Q13515 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 28935373 | 2017 | Human alpha A-crystallin missing N-terminal domain poorly complexes with filensin and phakinin. | 0 |
| 28935373 | 2017 | Human alpha A-crystallin missing N-terminal domain poorly complexes with filensin and phakinin. | 0 |
| 24654948 | 2014 | A novel p.G112E mutation in BFSP2 associated with autosomal dominant pulverulent cataract with sutural opacities. | 5 |
| 24654948 | 2014 | A novel p.G112E mutation in BFSP2 associated with autosomal dominant pulverulent cataract with sutural opacities. | 5 |
| 21836522 | 2011 | Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations. | 26 |
| 21836522 | 2011 | Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations. | 26 |
| 18958306 | 2008 | A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts. | 12 |
| 18958306 | 2008 | A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts. | 12 |
| 17982427 | 2007 | The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family. | 12 |
| 17982427 | 2007 | The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family. | 12 |
| 17200662 | 2006 | Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family. | 16 |
| 17200662 | 2006 | Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family. | 16 |
| 15570218 | 2004 | Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family. | 22 |
| 15570218 | 2004 | Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family. | 22 |
Citation
Dessen P
BFSP2 (beaded filament structural protein 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54155/bfsp2-(beaded-filament-structural-protein-2)
