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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 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Bfsp2

Human
homologs
Human Homolog BFSP2, beaded filament structural protein 2, phakinin
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
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 )
 
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)
Theiler Stages: 23
Assay TypeResults
RNA in situ 8
cDNA source data(18)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(19) cDNA(18) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000032745 (Evidence)
Ensembl Gene ModelENSMUSG00000032556 (Evidence)
Entrez Gene107993 (Evidence)
UniGene335403
DFCITC1581862, TC1617819
DoTSDT.101222626, DT.101250027, DT.91311463
NIA Mouse Gene IndexU161390
Consensus CDS ProjectCCDS52903.1
International Mouse Knockout Project StatusBfsp2
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(48)
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
08/26/2014
MGI 5.19
The Jackson Laboratory