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BFSP2 (beaded filament structural protein 2)

Identity

Alias (NCBI)CP47
CP49
CTRCT12
LIFL-L
PHAKOSIN
HGNC (Hugo) BFSP2
HGNC Alias symbCP47
CP49
LIFL-L
phakinin
HGNC Previous namebeaded filament structural protein 2, phakinin
LocusID (NCBI) 8419
Atlas_Id 54155
Location 3q22.1  [Link to chromosome band 3q22]
Location_base_pair Starts at 133400056 and ends at 133475208 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PIK3CB (3q22.3) / BFSP2 (3q22.1)SLC12A8 (3q21.2) / BFSP2 (3q22.1)PIK3CB 3q22.3 / BFSP2 3q22.1
SLC12A8 3q21.2 / BFSP2 3q22.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  Lung: Translocations in Squamous Cell Carcinoma
t(3;3)(q21;q22) SLC12A8/BFSP2
PIK3CB/BFSP2 (3q22)


External links

Nomenclature
HGNC (Hugo)BFSP2   1041
Cards
Entrez_Gene (NCBI)BFSP2  8419  beaded filament structural protein 2
AliasesCP47; CP49; CTRCT12; LIFL-L; 
PHAKOSIN
GeneCards (Weizmann)BFSP2
Ensembl hg19 (Hinxton)ENSG00000170819 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000170819 [Gene_View]  ENSG00000170819 [Sequence]  chr3:133400056-133475208 [Contig_View]  BFSP2 [Vega]
ICGC DataPortalENSG00000170819
TCGA cBioPortalBFSP2
AceView (NCBI)BFSP2
Genatlas (Paris)BFSP2
WikiGenes8419
SOURCE (Princeton)BFSP2
Genetics Home Reference (NIH)BFSP2
Genomic and cartography
GoldenPath hg38 (UCSC)BFSP2  -     chr3:133400056-133475208 +  3q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BFSP2  -     3q22.1   [Description]    (hg19-Feb_2009)
GoldenPathBFSP2 - 3q22.1 [CytoView hg19]  BFSP2 - 3q22.1 [CytoView hg38]
ImmunoBaseENSG00000170819
genome Data Viewer NCBIBFSP2 [Mapview hg19]  
OMIM603212   611597   
Gene and transcription
Genbank (Entrez)BC113518 BC113520 BM667774 BM696370 BM696550
RefSeq transcript (Entrez)NM_003571
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BFSP2
Alternative Splicing GalleryENSG00000170819
Gene ExpressionBFSP2 [ NCBI-GEO ]   BFSP2 [ EBI - ARRAY_EXPRESS ]   BFSP2 [ SEEK ]   BFSP2 [ MEM ]
Gene Expression Viewer (FireBrowse)BFSP2 [ Firebrowse - Broad ]
GenevisibleExpression of BFSP2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8419
GTEX Portal (Tissue expression)BFSP2
Human Protein AtlasENSG00000170819-BFSP2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13515   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13515  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13515
Splice isoforms : SwissVarQ13515
PhosPhoSitePlusQ13515
Domaine pattern : Prosite (Expaxy)IF_ROD_2 (PS51842)   
Domains : Interpro (EBI)IF_rod_dom    IF_rod_dom_coil1B    Keratin_I    Phakinin   
Domain families : Pfam (Sanger)Filament (PF00038)   
Domain families : Pfam (NCBI)pfam00038   
Domain families : Smart (EMBL)Filament (SM01391)  
Conserved Domain (NCBI)BFSP2
DMDM Disease mutations8419
Blocks (Seattle)BFSP2
SuperfamilyQ13515
Human Protein Atlas [tissue]ENSG00000170819-BFSP2 [tissue]
Peptide AtlasQ13515
HPRD04444
IPIIPI00299007   
Protein Interaction databases
DIP (DOE-UCLA)Q13515
IntAct (EBI)Q13515
FunCoupENSG00000170819
BioGRIDBFSP2
STRING (EMBL)BFSP2
ZODIACBFSP2
Ontologies - Pathways
QuickGOQ13515
Ontology : AmiGOstructural constituent of cytoskeleton  structural constituent of eye lens  protein binding  intermediate filament  plasma membrane  cell cortex  visual perception  intermediate filament organization  cell maturation  response to stimulus  lens fiber cell development  
Ontology : EGO-EBIstructural constituent of cytoskeleton  structural constituent of eye lens  protein binding  intermediate filament  plasma membrane  cell cortex  visual perception  intermediate filament organization  cell maturation  response to stimulus  lens fiber cell development  
NDEx NetworkBFSP2
Atlas of Cancer Signalling NetworkBFSP2
Wikipedia pathwaysBFSP2
Orthology - Evolution
OrthoDB8419
GeneTree (enSembl)ENSG00000170819
Phylogenetic Trees/Animal Genes : TreeFamBFSP2
HOGENOMQ13515
Homologs : HomoloGeneBFSP2
Homology/Alignments : Family Browser (UCSC)BFSP2
Gene fusions - Rearrangements
Fusion : MitelmanPIK3CB/BFSP2 [3q22.3/3q22.1]  
Fusion : MitelmanSLC12A8/BFSP2 [3q21.2/3q22.1]  
Fusion PortalPIK3CB 3q22.3 BFSP2 3q22.1 LUSC
Fusion PortalSLC12A8 3q21.2 BFSP2 3q22.1 BRCA
Fusion : QuiverBFSP2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBFSP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BFSP2
dbVarBFSP2
ClinVarBFSP2
1000_GenomesBFSP2 
Exome Variant ServerBFSP2
GNOMAD BrowserENSG00000170819
Varsome BrowserBFSP2
Genetic variants : HAPMAP8419
Genomic Variants (DGV)BFSP2 [DGVbeta]
DECIPHERBFSP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBFSP2 
Mutations
ICGC Data PortalBFSP2 
TCGA Data PortalBFSP2 
Broad Tumor PortalBFSP2
OASIS PortalBFSP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBFSP2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DBFSP2
Mutations and Diseases : HGMDBFSP2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch BFSP2
DgiDB (Drug Gene Interaction Database)BFSP2
DoCM (Curated mutations)BFSP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BFSP2 (select a term)
intoGenBFSP2
Cancer3DBFSP2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603212    611597   
Orphanet23423    14001    14002   
DisGeNETBFSP2
MedgenBFSP2
Genetic Testing Registry BFSP2
NextProtQ13515 [Medical]
TSGene8419
GENETestsBFSP2
Target ValidationBFSP2
Huge Navigator BFSP2 [HugePedia]
snp3D : Map Gene to Disease8419
BioCentury BCIQBFSP2
ClinGenBFSP2
Clinical trials, drugs, therapy
Protein Interactions : CTD8419
Pharm GKB GenePA25344
Clinical trialBFSP2
Miscellaneous
canSAR (ICR)BFSP2 (select the gene name)
HarmonizomeBFSP2
DataMed IndexBFSP2
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBFSP2
EVEXBFSP2
GoPubMedBFSP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Jul 16 15:04:55 CEST 2020

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