ENSMUSG00000032556


Mus musculus

Features
Gene ID: ENSMUSG00000032556
  
Biological name :Bfsp2
  
Synonyms : Bfsp2 / Phakinin / Q6NVD9
  
Possible biological names infered from orthology : beaded filament structural protein 2 / Q13515
  
Species: Mus musculus
  
Chr. number: 9
Strand: -1
Band: F1
Gene start: 103424924
Gene end: 103480420
  
Corresponding Affymetrix probe sets: 10596190 (MoGene1.0st)   1434463_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000116249
NCBI entrez gene - 107993     See in Manteia.
MGI - MGI:1333828
RefSeq - NM_001002896
RefSeq Peptide - NP_001002896
swissprot - Q6NVD9
Ensembl - ENSMUSG00000032556
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bfsp2ENSDARG00000011998Danio rerio
 BFSP2ENSGALG00000034585Gallus gallus
 BFSP2ENSG00000170819Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Krt222 / Q8CCX5 / Keratin-like protein KRT222 / Q8N1A0* / AC073508.2* / keratin 222*ENSMUSG000000358495


Protein motifs (from Interpro)
Interpro ID Name
 IPR001664  Intermediate filament protein
 IPR002957  Keratin, type I
 IPR027694  Phakinin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007010 cytoskeleton organization IMP
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0045104 intermediate filament cytoskeleton organization IMP
 biological_processGO:0048469 cell maturation IMP
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0070307 lens fiber cell development IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005882 intermediate filament IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005938 cell cortex IEA
 cellular_componentGO:0016020 membrane IEA
 molecular_functionGO:0005198 structural molecule activity IEA
 molecular_functionGO:0005212 structural constituent of eye lens IDA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001304 cataracts "complete or partial opacity of the lens" [J:65031]
Show

Allelic Composition: Aqp2tm1.1Nlsn/Aqp2tm1.1Nlsn
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0002090 abnormal vision "inability or decreased ability to see " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Fabp4tm1Brsp/Fabp4tm1Brsp,Fabp5tm1Hota/Fabp5tm1Hota
Genetic Background: B6.Cg-Fabp4tm1Brsp Fabp5tm1Hota

 MP:0002840 abnormal lens fibers morphology "structural anomaly of the elongated cells of the crystalline lens of the eye" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Htra2mnd2/Htra2mnd2
Genetic Background: involves: C3H/HeJ * C57BL/6J * CAST/Ei

Allelic Composition: Bfsp2tm1Raq/Bfsp2tm1Raq
Genetic Background: involves: 129P2/OlaHsd

 MP:0003096 increased corneal light-scattering "anomaly in the normal transmission of light through the cornea; light is reflected or absorbed instead; often due to anomalies in the arrangement of lamella in the corneal stroma" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator, J:81616]
Show

Allelic Composition: Bfsp2tm1Raq/Bfsp2tm1Raq
Genetic Background: involves: 129P2/OlaHsd

 MP:0020378 abnormal cell cytoskeleton morphology "any anomaly in the structure of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm" [GO:0005856, MGI:mberry]
Show

Allelic Composition: Htra2mnd2/Htra2mnd2
Genetic Background: involves: C3H/HeJ * C57BL/6J * CAST/Ei

Allelic Composition: Bfsp2tm1Raq/Bfsp2tm1Raq
Genetic Background: involves: 129P2/OlaHsd

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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