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Bfsp2
Gene Detail
Symbol

Name
ID
Bfsp2
beaded filament structural protein 2, phakinin
MGI:1333828
Synonyms
CP49
Feature Type
protein coding gene
Genetic Map
Chromosome 9
55.37 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr9:103424920-103480420 bp, - strand
From VEGA annotation of GRCm38

  55501 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20791  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: BFSP2
Gene Tree: Bfsp2

Human
homologs
BFSP2, beaded filament structural protein 2, phakinin
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 8419
neXtProt AC: NX_Q13515

Human Synonyms: CP47, CP49, CTRCT12, LIFL-L, PHAKOSIN

Human Chr (Location): 3q22.1; chr3:133399995-133475212 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human BFSP2

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Gene trapped(1) Spontaneous(1) Targeted(4)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mutations at this locus result in eye abnormalities.
 
Interactions
Bfsp2 interacts with 36 markers (Mir22, Mir30c-1, Mir30c-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (17 annotations)
Process cell maturation, cytoskeleton organization, ...
Component cytoplasm, cytoskeleton, ...
Function protein binding, structural constituent of eye lens, ...
External Resources: FuncBase
Expression
Literature Summary: (9 records)
Data Summary: Results (8)    Tissues (3)    Images (6)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 8
cDNA source data(18)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase bfsp2 ; ZFIN bfsp2    NEW 
Molecular
reagents
All nucleic(19) cDNA(18) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000032745 (Evidence)
Ensembl Gene Model ENSMUSG00000032556 (Evidence)
Entrez Gene 107993 (Evidence)
UniGene 335403
DFCI TC1617819, TC1581862
DoTS DT.101222626, DT.91311463, DT.101250027
NIA Mouse Gene Index U161390
Consensus CDS Project CCDS52903.1
International Mouse Phenotyping Consortium Status Bfsp2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000032745 VEGA Gene Model | MGI Sequence Detail 55501 C57BL/6J ±  kb
transcript OTTMUST00000081487 VEGA | MGI Sequence Detail 1666 Not Applicable 
polypeptide OTTMUSP00000043612 VEGA | MGI Sequence Detail 416 Not Applicable 

For the selected sequences
All sequences(37) RefSeq(4) UniProt(2)
Polymorphisms
PCR(1) : SNPs within 2kb(266 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001664 Intermediate filament protein
InterPro IPR002957 Keratin, type I
Protein Ontology PR:000004734 phakinin
References
(Earliest) J:53431 Wigle JT, et al., Prox1 function is crucial for mouse lens-fibre elongation. Nat Genet. 1999 Mar;21(3):318-22
(Latest) J:204680 Sugiyama Y, et al., Sfrp1 and Sfrp2 are not involved in Wnt/beta-catenin signal silencing during lens induction but are required for maintenance of Wnt/beta-catenin signaling in lens epithelial cells. Dev Biol. 2013 Dec 15;384(2):181-93
All references(47)
Other
accession IDs
MGI:2143053

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory