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

    Gene ID: 8419, updated on 27-Nov-2024

    Summary

    Official Symbol
    BFSP2provided by HGNC
    Official Full Name
    beaded filament structural protein 2provided by HGNC
    Primary source
    HGNC:HGNC:1041
    See related
    Ensembl:ENSG00000170819 MIM:603212; AllianceGenome:HGNC:1041
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BFSP2 in Genome Data Viewer
    Location:
    3q22.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (133400056..133475208)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (136142708..136220306)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (133118900..133194052)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 108 Neighboring gene TMEM108 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:132996224-132997423 Neighboring gene uncharacterized LOC101927432 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20541 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20542 Neighboring gene BFSP2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20543 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20544 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:133192065-133192724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20545 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:133206223-133206723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20548 Neighboring gene MAF1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20549 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20550 Neighboring gene FAM76A pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC142078, MGC142080

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    enables structural constituent of eye lens IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cell maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intermediate filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intermediate filament organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lens fiber cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cell cortex IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in intermediate filament IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in intermediate filament ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_012425.2 RefSeqGene

      Range
      5002..80154
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003571.4NP_003562.1  phakinin

      See identical proteins and their annotated locations for NP_003562.1

      Status: REVIEWED

      Source sequence(s)
      AC022296, AC055753
      Consensus CDS
      CCDS33859.1
      UniProtKB/Swiss-Prot
      Q13515, Q14D32, Q9HBW5
      Related
      ENSP00000304987.2, ENST00000302334.3
      Conserved Domains (1) summary
      pfam00038
      Location:115414
      Filament; Intermediate filament protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      133400056..133475208
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007315.2XP_016862804.1  phakinin isoform X1

      UniProtKB/Swiss-Prot
      Q13515, Q14D32, Q9HBW5
      Conserved Domains (1) summary
      pfam00038
      Location:115414
      Filament; Intermediate filament protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      136142708..136220306
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348085.1XP_054204060.1  phakinin isoform X1

      UniProtKB/Swiss-Prot
      Q13515, Q14D32, Q9HBW5