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BFSP2
Identifiers
Aliases	BFSP2, CP47, CP49, CTRCT12, LIFL-L, PHAKOSIN, beaded filament structural protein 2
External IDs	OMIM: 603212; MGI: 1333828; HomoloGene: 20791; GeneCards: BFSP2; OMA:BFSP2 - orthologs
Gene location (Human) Chr. Chromosome 3 (human) Band 3q22.1 Start 133,400,056 bp End 133,475,222 bp
Gene location (Mouse) Chr. Chromosome 9 (mouse) Band 9|9 F1 Start 103,302,123 bp End 103,357,619 bp
RNA expression pattern Bgee Human Mouse (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 Species Human Mouse 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 Mb Chr 9: 103.3 – 103.36 Mb PubMed search
Wikidata
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BFSP2 is a gene that encodes the protein phakinin ("beaded filament structural protein 2") in humans.

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.

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.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000170819 – Ensembl, May 2017
2. ^ 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. ^ "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.

External links

• Human BFSP2 genome location and BFSP2 gene details page in the UCSC Genome Browser.

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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