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

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, ...)

View All

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 Type	Results
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 Model	OTTMUSG00000032745 (Evidence)
Ensembl Gene Model	ENSMUSG00000032556 (Evidence)
Entrez Gene	107993 (Evidence)
UniGene	335403
DFCI	TC1617819, TC1581862
DoTS	DT.91311463, DT.101250027, DT.101222626
NIA Mouse Gene Index	U161390
Consensus CDS Project	CCDS52903.1
International Mouse Knockout Project Status	Bfsp2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000032745	VEGA Gene Model | MGI Sequence Detail	55501	C57BL/6J
transcript	OTTMUST00000081487	VEGA | MGI Sequence Detail	1666	Not Applicable
polypeptide	OTTMUSP00000043612	VEGA | MGI Sequence Detail	416	Not Applicable

All sequences(37) RefSeq(4) UniProt(2)

Polymorphisms

PCR(1) : SNPs within 2kb(266 from dbSNP Build 137)

Protein-related
information

Resource	ID	Description
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