BBS2: Difference between revisions

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{{Infobox_gene}}
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'''Bardet-Biedl syndrome 2 protein''' is a [[protein]] that in humans is encoded by the ''BBS2'' [[gene]].<ref name="pmid11285252">{{cite journal | vauthors = Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC | title = Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2) | journal = Hum Mol Genet | volume = 10 | issue = 8 | pages = 865–74 |date=Apr 2001 | pmid = 11285252 | pmc =  | doi =10.1093/hmg/10.8.865 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: BBS2 Bardet-Biedl syndrome 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=583| accessdate = }}</ref>
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{{GNF_Protein_box
| image =
| image_source = 
| PDB =
| Name = Bardet-Biedl syndrome 2
| HGNCid = 967
| Symbol = BBS2
| AltSymbols =; BBS; MGC20703
| OMIM = 606151
| ECnumber =
| Homologene = 12122
| MGIid = 2135267
| Function = {{GNF_GO|id=GO:0003674 |text = molecular_function}}
  | Component = {{GNF_GO|id=GO:0005575 |text = cellular_component}}
  | Process = {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 583
    | Hs_Ensembl = ENSG00000125124
    | Hs_RefseqProtein = NP_114091
    | Hs_RefseqmRNA = NM_031885
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 16
    | Hs_GenLoc_start = 55075801
    | Hs_GenLoc_end = 55111696
    | Hs_Uniprot = Q9BXC9
    | Mm_EntrezGene = 67378
    | Mm_Ensembl = ENSMUSG00000031755
    | Mm_RefseqmRNA = NM_026116
    | Mm_RefseqProtein = NP_080392
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 8
    | Mm_GenLoc_start = 96957083
    | Mm_GenLoc_end = 96987940
    | Mm_Uniprot = Q8C1M6
  }}
}}
'''Bardet-Biedl syndrome 2''', also known as '''BBS2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: BBS2 Bardet-Biedl syndrome 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=583| accessdate = }}</ref>


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{{PBB_Summary
{{PBB Summary
| section_title =  
| section_title =  
| summary_text = This gene encodes a protein of unknown function. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 2. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation.<ref name="entrez">{{cite web | title = Entrez Gene: BBS2 Bardet-Biedl syndrome 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=583| accessdate = }}</ref>
| summary_text = This gene encodes a protein of unknown function. Mutations in this gene have been observed in patients with [[Bardet-Biedl syndrome]] type 2. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation, and mental retardation.<ref name="entrez" />
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==External links==
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bbs  GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome]
* {{UCSC gene info|BBS2}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Kwitek-Black AE, Carmi R, Duyk GM, ''et al.'' |title=Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. |journal=Nat. Genet. |volume=5 |issue= 4 |pages= 392-6 |year= 1994 |pmid= 8298649 |doi= 10.1038/ng1293-392 }}
*{{cite journal  | author=Kwitek-Black AE |title=Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity |journal=Nat. Genet. |volume=5 |issue= 4 |pages= 392–6 |year= 1994 |pmid= 8298649 |doi= 10.1038/ng1293-392 |name-list-format=vanc| author2=Carmi R  | author3=Duyk GM  | display-authors=3  | last4=Buetow  | first4=Kenneth H.  | last5=Elbedour  | first5=Khalil  | last6=Parvari  | first6=Ruti  | last7=Yandava  | first7=Chandra Naidu  | last8=Stone  | first8=Edwin M.  | last9=Sheffield  | first9=Val C. }}
*{{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=Beales PL, Reid HA, Griffiths MH, ''et al.'' |title=Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome. |journal=Nephrol. Dial. Transplant. |volume=15 |issue= 12 |pages= 1977-85 |year= 2001 |pmid= 11096143 |doi=  }}
*{{cite journal  | author=Beales PL |title=Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome |journal=Nephrol. Dial. Transplant. |volume=15 |issue= 12 |pages= 1977–85 |year= 2001 |pmid= 11096143 |doi=10.1093/ndt/15.12.1977 |name-list-format=vanc| author2=Reid HA | author3=Griffiths MH  | display-authors=3  | last4=Maher  | first4=ER  | last5=Flinter  | first5=FA  | last6=Woolf  | first6=AS }}
*{{cite journal | author=Nishimura DY, Searby CC, Carmi R, ''et al.'' |title=Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). |journal=Hum. Mol. Genet. |volume=10 |issue= 8 |pages= 865-74 |year= 2001 |pmid= 11285252 |doi=  }}
*{{cite journal  | author=Katsanis N |title=Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder |journal=Science |volume=293 |issue= 5538 |pages= 2256–9 |year= 2001 |pmid= 11567139 |doi= 10.1126/science.1063525 |name-list-format=vanc| author2=Ansley SJ  | author3=Badano JL  | display-authors=3  | last4=Eichers  | first4=ER  | last5=Lewis  | first5=RA  | last6=Hoskins  | first6=BE  | last7=Scambler  | first7=PJ  | last8=Davidson  | first8=WS  | last9=Beales  | first9=PL }}
*{{cite journal  | author=Katsanis N, Ansley SJ, Badano JL, ''et al.'' |title=Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. |journal=Science |volume=293 |issue= 5538 |pages= 2256-9 |year= 2001 |pmid= 11567139 |doi= 10.1126/science.1063525 }}
*{{cite journal  | author=Strausberg RL |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  |name-list-format=vanc| author2=Feingold EA  | author3=Grouse LH  | display-authors=3  | last4=Derge  | first4=JG  | last5=Klausner  | first5=RD  | last6=Collins  | first6=FS  | last7=Wagner  | first7=L  | last8=Shenmen  | first8=CM  | last9=Schuler  | first9=GD }}
*{{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  | author=Badano JL |title=Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2 |journal=Am. J. Hum. Genet. |volume=72 |issue= 3 |pages= 650–8 |year= 2003 |pmid= 12567324 |doi=10.1086/368204  | pmc=1180240  |name-list-format=vanc| author2=Ansley SJ  | author3=Leitch CC  | display-authors=3  | last4=Lewis  | first4=Richard Alan  | last5=Lupski  | first5=James R.  | last6=Katsanis  | first6=Nicholas }}
*{{cite journal  | author=Badano JL, Ansley SJ, Leitch CC, ''et al.'' |title=Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. |journal=Am. J. Hum. Genet. |volume=72 |issue= 3 |pages= 650-8 |year= 2003 |pmid= 12567324 |doi=  }}
*{{cite journal  | author=Beales PL |title=Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome |journal=Am. J. Hum. Genet. |volume=72 |issue= 5 |pages= 1187–99 |year= 2003 |pmid= 12677556 |doi=10.1086/375178  | pmc=1180271  |name-list-format=vanc| author2=Badano JL  | author3=Ross AJ  | display-authors=3  | last4=Ansley  | first4=Stephen J.  | last5=Hoskins  | first5=Bethan E.  | last6=Kirsten  | first6=Brigitta  | last7=Mein  | first7=Charles A.  | last8=Froguel  | first8=Philippe  | last9=Scambler  | first9=Peter J. }}
*{{cite journal  | author=Beales PL, Badano JL, Ross AJ, ''et al.'' |title=Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. |journal=Am. J. Hum. Genet. |volume=72 |issue= 5 |pages= 1187-99 |year= 2003 |pmid= 12677556 |doi=  }}
*{{cite journal  | author=Badano JL |title=Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus |journal=Hum. Mol. Genet. |volume=12 |issue= 14 |pages= 1651–9 |year= 2003 |pmid= 12837689 |doi=10.1093/hmg/ddg188  |name-list-format=vanc| author2=Kim JC  | author3=Hoskins BE  | display-authors=3  | last4=Lewis  | first4=RA  | last5=Ansley  | first5=SJ  | last6=Cutler  | first6=DJ  | last7=Castellan  | first7=C  | last8=Beales  | first8=PL  | last9=Leroux  | first9=MR }}
*{{cite journal  | author=Badano JL, Kim JC, Hoskins BE, ''et al.'' |title=Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. |journal=Hum. Mol. Genet. |volume=12 |issue= 14 |pages= 1651-9 |year= 2003 |pmid= 12837689 |doi=  }}
*{{cite journal  | vauthors=Hoskins BE, Thorn A, Scambler PJ, Beales PL |title=Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique |journal=Hum. Mutat. |volume=22 |issue= 2 |pages= 151–7 |year= 2004 |pmid= 12872256 |doi= 10.1002/humu.10241 }}
*{{cite journal  | author=Hoskins BE, Thorn A, Scambler PJ, Beales PL |title=Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique. |journal=Hum. Mutat. |volume=22 |issue= 2 |pages= 151-7 |year= 2004 |pmid= 12872256 |doi= 10.1002/humu.10241 }}
*{{cite journal  | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |name-list-format=vanc| author2=Suzuki Y  | author3=Nishikawa T  | display-authors=3  | last4=Otsuki  | first4=Tetsuji  | last5=Sugiyama  | first5=Tomoyasu  | last6=Irie  | first6=Ryotaro  | last7=Wakamatsu  | first7=Ai  | last8=Hayashi  | first8=Koji  | last9=Sato  | first9=Hiroyuki }}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | author=Gerhard DS |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  |name-list-format=vanc| author2=Wagner L  | author3=Feingold EA  | display-authors=3  | last4=Shenmen  | first4=CM  | last5=Grouse  | first5=LH  | last6=Schuler  | first6=G  | last7=Klein  | first7=SL  | last8=Old  | first8=S  | last9=Rasooly  | first9=R }}
*{{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  | author=Rual JF |title=Towards a proteome-scale map of the human protein-protein interaction network |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 |name-list-format=vanc| author2=Venkatesan K  | author3=Hao T  | display-authors=3  | last4=Hirozane-Kishikawa  | first4=Tomoko  | last5=Dricot  | first5=Amélie  | last6=Li  | first6=Ning  | last7=Berriz  | first7=Gabriel F.  | last8=Gibbons  | first8=Francis D.  | last9=Dreze  | first9=Matija }}
*{{cite journal  | author=Rual JF, Venkatesan K, Hao T, ''et al.'' |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173-8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
}}
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Latest revision as of 02:30, 30 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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

Bardet-Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene.[1][2]

This gene encodes a protein of unknown function. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 2. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation, and mental retardation.[2]

References

  1. ↑ Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC (Apr 2001). "Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)". Hum Mol Genet. 10 (8): 865–74. doi:10.1093/hmg/10.8.865. PMID 11285252.
  2. ↑ 2.0 2.1 "Entrez Gene: BBS2 Bardet-Biedl syndrome 2".

External links

Further reading



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