ENSG00000170819


Homo sapiens

Features
Gene ID: ENSG00000170819
  
Biological name :BFSP2
  
Synonyms : beaded filament structural protein 2 / BFSP2 / Q13515
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: q22.1
Gene start: 133399995
Gene end: 133475222
  
Corresponding Affymetrix probe sets: 207399_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000304987
NCBI entrez gene - 8419     See in Manteia.
OMIM - 603212
RefSeq - NM_003571
RefSeq - XM_017007315
RefSeq Peptide - NP_003562
swissprot - Q13515
Ensembl - ENSG00000170819
  
Related genetic diseases (OMIM): 611597 - Cataract 12, multiple types, 611597
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bfsp2ENSDARG00000011998Danio rerio
 BFSP2ENSGALG00000034585Gallus gallus
 Bfsp2ENSMUSG00000032556Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KRT222 / Q8N1A0 / keratin 222ENSG000002134244
AC073508.2ENSG000002640584


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 IEA
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0045104 intermediate filament cytoskeleton organization IEA
 biological_processGO:0048469 cell maturation IEA
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0070307 lens fiber cell development IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005882 intermediate filament TAS
 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:0005200 structural constituent of cytoskeleton TAS
 molecular_functionGO:0005212 structural constituent of eye lens IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000519 Congenital cataract "A congenital `cataract` (HP:0000518)." [HPO:probinson]
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 HP:0000545 Myopia 
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 HP:0007834 Progressive cataracts 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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