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

Gene ID: 8419, updated on 11-Jun-2021

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
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
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Genomic context

See BFSP2 in Genome Data Viewer
Location:
3q22.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (133397882..133475208)
105.20201022 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 uncharacterized LOC101927432 Neighboring gene BFSP2 antisense RNA 1 Neighboring gene MAF1 homolog (S. cerevisiae) pseudogene Neighboring gene CDV3 homolog

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

Homology

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 ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in lens fiber cell development IEA
Inferred from Electronic Annotation
more info
 
involved_in response to stimulus 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
 
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)

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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_003571.4NP_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
    Related
    ENSP00000304987.2, ENST00000302334.3
    Conserved Domains (1) summary
    pfam00038
    Location:115414
    Filament; Intermediate filament protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    133397882..133475208
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007315.1XP_016862804.1  phakinin isoform X3

    UniProtKB/Swiss-Prot
    Q13515
    Conserved Domains (1) summary
    pfam00038
    Location:115414
    Filament; Intermediate filament protein
  2. XM_024453788.1XP_024309556.1  phakinin isoform X1

    Conserved Domains (1) summary
    pfam00038
    Location:2194
    Filament; Intermediate filament protein
  3. XM_024453789.1XP_024309557.1  phakinin isoform X2

    Conserved Domains (1) summary
    pfam00038
    Location:1155
    Filament; Intermediate filament protein
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