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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. BFSP2, beaded filament structural protein 2, phakinin
Sequence ID:NM_003571
RefSeqGene ID:NG_012425
Entrez Gene ID:8419
Ensembl ID:ENSG00000170819

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES 1 

Cytogenetic Location (from UniGene)

Cytogenetic Location:3q22.1Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:3: 133118852 - 133193919

NM_003571 exon info from UCSC:

Transcript StartTranscript EndChromosomal Start Chromosomal End
1627133118789133119415
628710133166160133166242
711867133167332133167488
8681029133169146133169307
10301161133185671133185802
11621382133191188133191408
13831626133193812133194055

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
8322570Full LengthBC113518beaded filament structural protein 2, phakinin
8322572Full LengthBC113520beaded filament structural protein 2, phakinin

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_003562  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_003571 NP_003562 Q13515 Filament

Related Sequences

 
mRNAGenPeptSwissProt
U48224 AAC50414 Q13515
BC113518 AAI13519 Q13515
BC113520 AAI13521 Q13515
HQ258421 ADR83175  

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens BFSP2 NP_003562 M.musculus Bfsp2 107993 Gene Info NP_001002896 85

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)