BFSP2

Protein-coding gene in the species Homo sapiens
BFSP2
Identifiers
AliasesBFSP2, CP47, CP49, CTRCT12, LIFL-L, PHAKOSIN, beaded filament structural protein 2
External IDsOMIM: 603212; MGI: 1333828; HomoloGene: 20791; GeneCards: BFSP2; OMA:BFSP2 - orthologs
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for BFSP2
Genomic location for BFSP2
Band3q22.1Start133,400,056 bp[1]
End133,475,222 bp[1]
Gene location (Mouse)
Chromosome 9 (mouse)
Chr.Chromosome 9 (mouse)[2]
Chromosome 9 (mouse)
Genomic location for BFSP2
Genomic location for BFSP2
Band9|9 F1Start103,302,123 bp[2]
End103,357,619 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • lens

  • testicle

  • gonad

  • lymph node

  • spleen

  • granulocyte

  • appendix

  • mucosa of transverse colon

  • bone marrow cells

  • rectum
Top expressed in
  • lens

  • epithelium of lens

  • iris

  • ciliary body

  • retinal pigment epithelium

  • Jacobson's organ

  • sciatic nerve

  • embryo

  • embryo

  • facial motor nucleus
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • structural constituent of cytoskeleton
  • protein binding
  • structural molecule activity
  • structural constituent of eye lens
Cellular component
  • cell cortex
  • intermediate filament
  • cytoskeleton
  • membrane
  • cytoplasm
  • plasma membrane
Biological process
  • cell maturation
  • cytoskeleton organization
  • lens fiber cell development
  • response to stimulus
  • visual perception
  • intermediate filament cytoskeleton organization
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

8419

107993

Ensembl

ENSG00000170819

ENSMUSG00000032556

UniProt

Q13515

Q6NVD9

RefSeq (mRNA)

NM_003571

NM_001002896
NM_001364514

RefSeq (protein)

NP_003562

NP_001002896
NP_001351443

Location (UCSC)Chr 3: 133.4 – 133.48 MbChr 9: 103.3 – 103.36 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

BFSP2 is a gene that encodes the protein phakinin ("beaded filament structural protein 2") in humans.[5]

More than 99% of the vertebrate ocular lens consists of terminally differentiated lens fiber cells. Two lens-specific intermediate filament proteins, the protein product of this gene (CP49 or phakinin) and filensin (also known as CP115), 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.[5]

The two BFSP proteins are put into a "type VI" of intermediate filament (IF) classification. Unlike other IFs that form unbranched links, the two proteins form a network of filaments together with CRYAA.[6][7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000170819 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032556 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: BFSP2 beaded filament structural protein 2, phakinin".
  6. ^ Chaves JM, Gupta R, Srivastava K, Srivastava O (December 2017). "Human alpha A-crystallin missing N-terminal domain poorly complexes with filensin and phakinin". Biochemical and Biophysical Research Communications. 494 (1–2): 402–408. doi:10.1016/j.bbrc.2017.09.088. PMID 28935373.
  7. ^ Szeverenyi I, Cassidy AJ, Chung CW, Lee BT, Common JE, Ogg SC, Chen H, Sim SY, Goh WL, Ng KW, Simpson JA, Chee LL, Eng GH, Li B, Lunny DP, Chuon D, Venkatesh A, Khoo KH, McLean WH, Lim YP, Lane EB. "Human Intermediate Filament Database". Szeverenyi I, Cassidy AJ, Chung CW, Lee BT, Common JE, Ogg SC, et al. (March 2008). "The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases". Human Mutation. 29 (3): 351–360. doi:10.1002/humu.20652. PMID 18033728. S2CID 20760837.

Further reading

  • Merdes A, Gounari F, Georgatos SD (December 1993). "The 47-kD lens-specific protein phakinin is a tailless intermediate filament protein and an assembly partner of filensin". The Journal of Cell Biology. 123 (6 Pt 1): 1507–1516. doi:10.1083/jcb.123.6.1507. PMC 2290875. PMID 7504675.
  • Hess JF, Casselman JT, FitzGerald PG (January 1995). "Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47". Current Eye Research. 14 (1): 11–18. doi:10.3109/02713689508999909. PMID 7720401.
  • Hess JF, Casselman JT, FitzGerald PG (March 1996). "Gene structure and cDNA sequence identify the beaded filament protein CP49 as a highly divergent type I intermediate filament protein". The Journal of Biological Chemistry. 271 (12): 6729–6735. doi:10.1074/jbc.271.41.25089. PMID 8636093.
  • Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
  • Hess JF, Casselman JT, Kong AP, FitzGerald PG (May 1998). "Primary sequence, secondary structure, gene structure, and assembly properties suggests that the lens-specific cytoskeletal protein filensin represents a novel class of intermediate filament protein". Experimental Eye Research. 66 (5): 625–644. doi:10.1006/exer.1998.0478. PMID 9628810.
  • Conley YP, Erturk D, Keverline A, Mah TS, Keravala A, Barnes LR, et al. (April 2000). "A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2". American Journal of Human Genetics. 66 (4): 1426–1431. doi:10.1086/302871. PMC 1288209. PMID 10729115.
  • Jakobs PM, Hess JF, FitzGerald PG, Kramer P, Weleber RG, Litt M (April 2000). "Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2". American Journal of Human Genetics. 66 (4): 1432–1436. doi:10.1086/302872. PMC 1288210. PMID 10739768.
  • Carter JM, McLean WH, West S, Quinlan RA (April 2000). "Mapping of the human CP49 gene and identification of an intragenic polymorphic marker to allow genetic linkage analysis in autosomal dominant congenital cataract". Biochemical and Biophysical Research Communications. 270 (2): 432–436. doi:10.1006/bbrc.2000.2442. PMID 10753642.
  • Zhang Q, Guo X, Xiao X, Yi J, Jia X, Hejtmancik JF (November 2004). "Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family". Molecular Vision. 10: 890–900. PMID 15570218.
  • Zhang L, Gao L, Li Z, Qin W, Gao W, Cui X, et al. (December 2006). "Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family". Molecular Vision. 12: 1626–1631. PMID 17200662.
  • Cui X, Gao L, Jin Y, Zhang Y, Bai J, Feng G, et al. (October 2007). "The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family". Molecular Vision. 13: 2023–2029. PMID 17982427.


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