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

Chr9:103424920-103480328 bp, - strand From VEGA annotation of GRCm38   55409 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 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 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; chr3:133118790-133194056 (+)  GRCh37.p13
Disease Associations		(1) Diseases Associated with Human BFSP2

Alleles and phenotypes

All alleles(6) : Targeted(4) Gene trapped(1) Spontaneous(1)
 

Mutations at this locus result in eye abnormalities.

 

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: (8 records)

Data Summary: Results (8)    Tissues (3)    Images (6)
Theiler Stages: 23

Assay Type	Results
RNA in situ	8

cDNA source data(18)
External Resources: Allen Institute   GEO   ArrayExpress

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	TC1581862, TC1617819
DoTS	DT.101222626, DT.101250027, DT.91311463
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	55409	C57BL/6J
transcript	OTTMUST00000081487	VEGA | MGI Sequence Detail	1574	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:201031 Fan J, et al., A role for gammaS-crystallin in the organization of actin and fiber cell maturation in the mouse lens. FEBS J. 2012 Aug;279(16):2892-904
All references(46)

Other accession IDs

MGI:2143053