BFSP2: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
m (Robot: Automated text replacement (-{{WikiDoc Cardiology Network Infobox}} +, -<references /> +{{reflist|2}}, -{{reflist}} +{{reflist|2}}))
 
m (Bot: HTTP→HTTPS)
 
Line 1: Line 1:
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{too technical|date=April 2013}}
{{PBB_Controls
{{Infobox_gene}}
| update_page = yes
'''BFSP2''' is a [[gene]] that encodes the [[protein]] phakinin in humans.<ref name="entrez">{{cite web | title = Entrez Gene: BFSP2 beaded filament structural protein 2, phakinin| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8419| accessdate = }}</ref>
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
 
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Beaded filament structural protein 2, phakinin
| HGNCid = 1041
| Symbol = BFSP2
| AltSymbols =; CP47; CP49; LIFL-L; MGC142078; MGC142080
| OMIM = 603212
| ECnumber = 
| Homologene = 20791
| MGIid = 1333828
| GeneAtlas_image1 = PBB_GE_BFSP2_207399_at_tn.png
| Function = {{GNF_GO|id=GO:0005200 |text = structural constituent of cytoskeleton}} {{GNF_GO|id=GO:0005212 |text = structural constituent of eye lens}}
| Component = {{GNF_GO|id=GO:0005856 |text = cytoskeleton}} {{GNF_GO|id=GO:0005882 |text = intermediate filament}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0007010 |text = cytoskeleton organization and biogenesis}} {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 8419
    | Hs_Ensembl = ENSG00000170819
    | Hs_RefseqProtein = NP_003562
    | Hs_RefseqmRNA = NM_003571
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 3
    | Hs_GenLoc_start = 134601480
    | Hs_GenLoc_end = 134676746
    | Hs_Uniprot = Q13515
    | Mm_EntrezGene = 107993
    | Mm_Ensembl = ENSMUSG00000032556
    | Mm_RefseqmRNA = NM_001002896
    | Mm_RefseqProtein = NP_001002896
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 9
    | Mm_GenLoc_start = 103284706
    | Mm_GenLoc_end = 103338376
    | Mm_Uniprot = Q3UYB8
  }}
}}
'''Beaded filament structural protein 2, phakinin''', also known as '''BFSP2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: BFSP2 beaded filament structural protein 2, phakinin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8419| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = 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 (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.<ref name="entrez">{{cite web | title = Entrez Gene: BFSP2 beaded filament structural protein 2, phakinin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8419| accessdate = }}</ref>
| summary_text = More than 99% of the vertebrate [[lens (anatomy)|ocular lens]] consists of terminally differentiated lens fiber cells.  Two lens-specific intermediate filament-like 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 [[cataract]]s and [[Dowling-Meara epidermolysis bullosa simplex]].<ref name="entrez" />
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==External links==
* {{UCSC gene info|BFSP2}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Merdes A, Gounari F, Georgatos SD |title=The 47-kD lens-specific protein phakinin is a tailless intermediate filament protein and an assembly partner of filensin. |journal=J. Cell Biol. |volume=123 |issue= 6 Pt 1 |pages= 1507-16 |year= 1994 |pmid= 7504675 |doi=  }}
*{{cite journal  | vauthors=Merdes A, Gounari F, Georgatos SD |title=The 47-kD lens-specific protein phakinin is a tailless intermediate filament protein and an assembly partner of filensin. |journal=J. Cell Biol. |volume=123 |issue= 6 Pt 1 |pages= 1507–16 |year= 1994 |pmid= 7504675 |doi=10.1083/jcb.123.6.1507  | pmc=2290875 }}
*{{cite journal  | author=Hess JF, Casselman JT, FitzGerald PG |title=Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47. |journal=Curr. Eye Res. |volume=14 |issue= 1 |pages= 11-8 |year= 1995 |pmid= 7720401 |doi=  }}
*{{cite journal  | vauthors=Hess JF, Casselman JT, FitzGerald PG |title=Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47. |journal=Curr. Eye Res. |volume=14 |issue= 1 |pages= 11–8 |year= 1995 |pmid= 7720401 |doi=10.3109/02713689508999909 }}
*{{cite journal  | author=Hess JF, Casselman JT, FitzGerald PG |title=Gene structure and cDNA sequence identify the beaded filament protein CP49 as a highly divergent type I intermediate filament protein. |journal=J. Biol. Chem. |volume=271 |issue= 12 |pages= 6729-35 |year= 1996 |pmid= 8636093 |doi=  }}
*{{cite journal  | vauthors=Hess JF, Casselman JT, FitzGerald PG |title=Gene structure and cDNA sequence identify the beaded filament protein CP49 as a highly divergent type I intermediate filament protein. |journal=J. Biol. Chem. |volume=271 |issue= 12 |pages= 6729–35 |year= 1996 |pmid= 8636093 |doi=10.1074/jbc.271.41.25089 }}
*{{cite journal  | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791-806 |year= 1997 |pmid= 8889548 |doi=  }}
*{{cite journal  | vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791 }}
*{{cite journal  | author=Hess JF, Casselman JT, Kong AP, FitzGerald PG |title=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. |journal=Exp. Eye Res. |volume=66 |issue= 5 |pages= 625-44 |year= 1998 |pmid= 9628810 |doi= 10.1006/exer.1998.0478 }}
*{{cite journal  | vauthors=Hess JF, Casselman JT, Kong AP, FitzGerald PG |title=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. |journal=Exp. Eye Res. |volume=66 |issue= 5 |pages= 625–44 |year= 1998 |pmid= 9628810 |doi= 10.1006/exer.1998.0478 }}
*{{cite journal  | author=Conley YP, Erturk D, Keverline A, ''et al.'' |title=A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2. |journal=Am. J. Hum. Genet. |volume=66 |issue= 4 |pages= 1426-31 |year= 2000 |pmid= 10729115 |doi=  }}
*{{cite journal  | vauthors=Conley YP, Erturk D, Keverline A |title=A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2. |journal=Am. J. Hum. Genet. |volume=66 |issue= 4 |pages= 1426–31 |year= 2000 |pmid= 10729115 |doi=10.1086/302871 | pmc=1288209  |display-authors=etal}}
*{{cite journal  | author=Jakobs PM, Hess JF, FitzGerald PG, ''et al.'' |title=Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. |journal=Am. J. Hum. Genet. |volume=66 |issue= 4 |pages= 1432-6 |year= 2000 |pmid= 10739768 |doi=  }}
*{{cite journal  | vauthors=Jakobs PM, Hess JF, FitzGerald PG |title=Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. |journal=Am. J. Hum. Genet. |volume=66 |issue= 4 |pages= 1432–6 |year= 2000 |pmid= 10739768 |doi=10.1086/302872 | pmc=1288210  |display-authors=etal}}
*{{cite journal  | author=Carter JM, McLean WH, West S, Quinlan RA |title=Mapping of the human CP49 gene and identification of an intragenic polymorphic marker to allow genetic linkage analysis in autosomal dominant congenital cataract. |journal=Biochem. Biophys. Res. Commun. |volume=270 |issue= 2 |pages= 432-6 |year= 2000 |pmid= 10753642 |doi= 10.1006/bbrc.2000.2442 }}
*{{cite journal  | vauthors=Carter JM, McLean WH, West S, Quinlan RA |title=Mapping of the human CP49 gene and identification of an intragenic polymorphic marker to allow genetic linkage analysis in autosomal dominant congenital cataract. |journal=Biochem. Biophys. Res. Commun. |volume=270 |issue= 2 |pages= 432–6 |year= 2000 |pmid= 10753642 |doi= 10.1006/bbrc.2000.2442 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
*{{cite journal  | author=Zhang Q, Guo X, Xiao X, ''et al.'' |title=Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family. |journal=Mol. Vis. |volume=10 |issue=  |pages= 890-900 |year= 2005 |pmid= 15570218 |doi=  }}
*{{cite journal  | vauthors=Zhang Q, Guo X, Xiao X |title=Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family. |journal=Mol. Vis. |volume=10 |issue=  |pages= 890–900 |year= 2005 |pmid= 15570218 |doi=  |display-authors=etal}}
*{{cite journal  | author=Zhang L, Gao L, Li Z, ''et al.'' |title=Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family. |journal=Mol. Vis. |volume=12 |issue=  |pages= 1626-31 |year= 2007 |pmid= 17200662 |doi=  }}
*{{cite journal  | vauthors=Zhang L, Gao L, Li Z |title=Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family. |journal=Mol. Vis. |volume=12 |issue=  |pages= 1626–31 |year= 2007 |pmid= 17200662 |doi=  |display-authors=etal}}
*{{cite journal  | author=Cui X, Gao L, Jin Y, ''et al.'' |title=The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family. |journal=Mol. Vis. |volume=13 |issue=  |pages= 2023-9 |year= 2007 |pmid= 17982427 |doi=  }}
*{{cite journal  | vauthors=Cui X, Gao L, Jin Y |title=The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family. |journal=Mol. Vis. |volume=13 |issue=  |pages= 2023–9 |year= 2007 |pmid= 17982427 |doi=  |display-authors=etal}}
}}
}}
{{refend}}
{{refend}}


{{protein-stub}}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{WikiDoc Sources}}
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
 
 
{{gene-3-stub}}

Latest revision as of 02:34, 30 August 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

BFSP2 is a gene that encodes the protein phakinin in humans.[1]

More than 99% of the vertebrate ocular lens consists of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like 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.[1]

References

  1. ↑ 1.0 1.1 "Entrez Gene: BFSP2 beaded filament structural protein 2, phakinin".

External links

Further reading



Retrieved from "https://www.wikidoc.org/index.php?title=BFSP2&oldid=1413172"