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BBS2


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Gene DB Home
Symbol:BBS2
Name(s):Bardet-Biedl syndrome 2
Type:protein-coding
Organism:Homo sapiens
Synonyms:BBS, MGC20703
Links: Pubmed, Entrez Gene, GeneCards, BioGPS, Map Viewer.

Gene Information from Publications

Publication Link Summary of findings
17003356 Observational study of gene-disease association. (HuGE Navigator)
12837689 The presence of three mutant alleles in the BBS family correlates with a more severe Bardet-Biedl phenotype.
12872256 A novel missense mutation found in BBS2 exon 4 and a novel intronic point mutation found in Bardet-Biedl syndrome patients.
12567324 Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with this protein.
11567139 Unaffected individuals in 2 pedigrees had 2 but not all 3 mutations that affecteds had which suggests that Bardet-Biedle syndrome might not be a single-gene recessive disease but a complex trait requiring three mutant alleles to manifest the phenotype.

Recent Publications on BBS2:

Pubmed Logo
Evaluation of real-time PCR endogenous control genes for analysis of gene expression in bovine endometrium.
ABSTRACT: BACKGROUND: Quantitative real-time PCR gene expression results...
3rd November, 2009
BMC Mol Biol. 2009 Nov 1;10(1):100.
DOI Direct Link
Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice.
Primary cilia are found on nearly every mammalian cell, including...
19th August, 2009
Department of Orthopaedic Surgery and Rehabilitation, University of Iowa, J Orthop Res. 2009 Aug;27(8):1093-9.
DOI Direct Link
Patterns of expression of Bardet-Biedl syndrome proteins in the mammalian cochlea suggest noncentrosomal functions.
Bardet-Biedl syndrome is a heterogeneous disorder causing a spectrum of...
26th June, 2009
Institute of Child Health, University College London, London WC1N1EH, J Comp Neurol. 2009 May 10;514(2):174-88.
DOI Direct Link
Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling.
Obesity is a major public health problem in most developed countries and a...
19th May, 2009
Department of Pediatrics, University of Iowa Carver College of Medicine, Hum Mol Genet. 2009 Apr 1;18(7):1323-31. Epub 2009 Jan 15.
DOI Direct Link
The protective effect of methylene blue in lungs, small bowel and kidney after intestinal ischemia and reperfusion.
PURPOSE: To study the role of methylene blue as an inhibitor of superoxide...
8th May, 2009
Department of Experimental Surgery of the Pontifical Catholic University Acta Cir Bras. 2008 Mar-Apr;23(2):149-56.

View more research publications.

Patents:

Patents logo
US Patent No.Title
7588771 Microorganisms for therapy
7008782 Bardet-Biedl susceptibility gene and uses thereof
6982789 Monochromator system and applications thereof
6962788 Identification of a gene causing the most common form of bardet-biedl syndrome and uses thereof
6890219 Polarized receptacle containing baseboard in reduced cable requiring system and method for providing electrical energy to houses and buildings and the like

View more patents.

BBS2 results (if any) from reagent suppliers

Google CSE Logo
BBS Antibody / BBS Antibodies
BBS2 (C-16) Antibody, sc-49381, goat IgG, C-terminus (h), WB, IF, ELISA ... BBS2 (H-246) Antibody, sc-99057, rabbit IgG, 55-300 (h), WB, IP, IF, ELISA ...
http://www.scbt.com/table-bbs.html...

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Search Results
Stock# - 010751 Strain name - 129S.129-Bbs2/J JAX® Mice Database Site Section: JAX® Mice and services · jaxmice.jax.org/strain/010751.html - 31Kb ...
http://www.jax.org/search/Main.jsp?sg=0&qt=hhmi&page=5...

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BBS2 (H-246) Antibody sc-99057
BBS2 (H-246) Antikörper sc-99057 BBS2 (H-246) Antibody sc-99057.
http://www.scbt.com/de/datasheet-99057-bbs2-h-246-antibody.h...

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Triple Point Biologics, Inc. | Metalloproteinases
Human BBS1 (Bardet-Biedl syndrome 1 protein, BBS2-like protein 2); BMP1 Human BMP-1 (Bone Morphogenic Protein-1, ProCollagen C-endopeptidase, PCP, mTld) ...
http://www.triplepointbiologics.com/category.php?category_id...

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BBS2 siRNA (m) sc-60252
Click here for details. contact Technical Service for availability of control antibody; sqRT-PCR Primer also available: BBS2 (m)-PR: sc-60252-PR, 20 µl ...
http://www.scbt.com/ja/datasheet-60252-bbs2-sirna-m.html...

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Abcam antibodies and reagents product map
... Adiponectin antibodies (20) · Adiponectin proteins and peptides (17) · Attractin antibodies (2) · BBS12 antibodies (1) · BBS2 antibodies (2) ...
http://www.abcam.com/index.html?cl=248&pageconfig=productmap...

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BBS2 (S-19) Antibody sc-49384
BBS2 (S-19) Anticuerpo sc-49384 BBS2 (S-19) Antibody sc-49384.
http://www.scbt.com/es/datasheet-49384-bbs2-s-19-antibody.ht...

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