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BFSP2 beaded filament structural protein 2 [ Homo sapiens (human) ]

Gene ID: 8419, updated on 8-May-2016
Official Symbol
BFSP2provided by HGNC
Official Full Name
beaded filament structural protein 2provided by HGNC
Primary source
HGNC:HGNC:1041
See related
Ensembl:ENSG00000170819 HPRD:04444; MIM:603212; Vega:OTTHUMG00000159719
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CP47; CP49; LIFL-L; CTRCT12; PHAKOSIN
Summary
More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009]
Orthologs
Location:
3q22.1
Exon count:
7
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (133399995..133475212)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (133118790..133194056)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 108 Neighboring gene TMEM108 antisense RNA 1 Neighboring gene uncharacterized LOC101927432 Neighboring gene BFSP2 antisense RNA 1 Neighboring gene MAF1 homolog (S. cerevisiae) pseudogene Neighboring gene CDV3 homolog

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC142078, MGC142080

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
structural constituent of eye lens IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell maturation IEA
Inferred from Electronic Annotation
more info
 
intermediate filament cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
lens fiber cell development IEA
Inferred from Electronic Annotation
more info
 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell cortex IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
intermediate filament IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
Preferred Names
phakinin
Names
49 kDa cytoskeletal protein
beaded filament protein CP49
beaded filament structural protein 2, phakinin
bfps2, Cytoskeletal protein, 49-kD
lens fiber cell beaded filament protein CP 47
lens fiber cell beaded filament protein CP 49
lens intermediate filament-like light

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012425.1 RefSeqGene

    Range
    5050..80267
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003571.3NP_003562.1  phakinin

    See identical proteins and their annotated locations for NP_003562.1

    Status: REVIEWED

    Source sequence(s)
    BC113520, BM667774, BM696550
    Consensus CDS
    CCDS33859.1
    UniProtKB/Swiss-Prot
    Q13515
    Related
    ENSP00000304987, OTTHUMP00000216298, ENST00000302334, OTTHUMT00000357031
    Conserved Domains (1) summary
    pfam00038
    Location:115414
    Filament; Intermediate filament protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

    Range
    133399995..133475212
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    133082187..133157359
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)