BBS4

Summary Top Help

Gene Description:

Bardet-Biedl syndrome 4; Bardet-Biedl syndrome 4 (human)

Synonyms:

AW742241, BBS4, D9Ertd464e, AW537059, Bbs4

Orthologs:

Human BBS4 (protein-coding), Mouse Bbs4 (protein-coding), Rat Bbs4 (protein-coding)

Sources

Overlapping regions from T1DBase Curated Regions Top Help

Regions Overlapping this Feature: Mouse: 1

Linkage Regions: 1 Available

Locus	Species	Chromosomal Location	Mb	Number of genes	Linkage and Congenic Studies
Idd2	Mouse	chr9:32308040..98698811	66.39	764	6 no lod score

Gene Overview from Genome Browser Top Help

(Human) GRCh37 - chr15:72978520..73030817 (52.30 kb) View in Genome Browser

(Mouse) NCBIM37 - chr9:59169773..59201315 (31.54 kb) View in Genome Browser

(Rat) RGSC3.4 - chr8:63153456..63189904 (36.45 kb) View in Genome Browser

HaemAtlas Expression from HaemAtlas Top Help

HaemAtlas Expression Table for BBS4:

Beta Cell Expression from Beta Cell Gene Atlas Top Help

Cell Types Showing Expression: Available

Users should be aware that the scale represents a rank within an experiment rather than a normalized expression signal.

Human					Mouse			Rat
ductal cells	exocrine pancreas	pancreatic islets	primary beta cells	Pancreatic Islets MPSS	beta cell line	pancreatic islets	whole pancreas	alpha cell	beta cell line	pancreatic islets	primary beta cells	whole pancreas

Expression Legend

Tissue Expression from GNF Gene Atlas Top Help

Tissues Showing Expression: Available

Users should be aware that the scale represents a rank within an experiment rather than a normalized expression signal.

Expression Legend

Interactions Top Help

Interactions Table for BBS4:

The BBS4 interactions are shown below. Each row lists the two interactors, the sources which document this as an interaction, a classification of the interaction as empirical or predicted, and Pubmed IDs (if any) for the interaction.

The table of interactions is downloadable as a text file. Please note that the text file will not include data from HPRD due to restrictions imposed by the HPRD funding sources.

Interactor	Interactor	Sources	Classification	Pubmed IDs
BBS4	FLOT1	IntAct	empirical	18000879
BBS4	RAB3IP	IntAct	empirical	17574030
BBS4	TTC8	IntAct	empirical	17574030
BBS4	BBS5	IntAct	empirical	17574030
BBS4	HSCB	IntAct	empirical	18000879
BBS4	DCTN1	IntAct, BioGRID	empirical	18000879 15107855
BBS4	EEF1A1	IntAct	empirical	18000879
BBS4	EPAS1	IntAct	empirical	18000879
BBS4	ALDOB	IntAct	empirical	18000879
BBS4	EXOC7	IntAct	empirical	18000879
BBS4	BBS9	IntAct	empirical	17574030
BBS4	FHOD1	IntAct	empirical	18000879
BBS4	KRT18	IntAct	empirical	18000879
BBS4	PAX2	IntAct	empirical	18000879
BBS4	PCM1	HPRD, IntAct, BioGRID	empirical	15107855 18000879 18772192 17574030
BBS4	BBS7	IntAct	empirical	17574030
BBS4	BBS1	IntAct	empirical	17574030
BBS4	BBS2	IntAct	empirical	17574030
BBS4	ACTB	IntAct	empirical	18000879
BBS4	BHMT	IntAct	empirical	18000879
BBS4	SSTR3	IntAct	empirical	20603001
BBS4	UBC	BioGRID	empirical	21906983
BBS4	CALCA	IntAct	empirical	18000879
BBS4	CEP290	IntAct	empirical	18772192
BBS4	EIF3A	IntAct	empirical	18000879
BBS4	ACY1	IntAct	empirical	18000879

Cross-Reference to Pathways and GO Terms Top Help

View all

KEGG Network: None available

Biocarta: None available

Reactome: None available

NCI-Nature Pathway Interaction Database: None available

Gene Ontology: 54

Publications from PubMed Top Help

Publications: 71

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, Fieggen KJ, Gerth C, Noordeh N, Traboulsi EI, Fishman GA, Chitayat D, Knueppel T, Millán JM, Munier FL, Kennedy D, Jacobson SG, Innes AM, Mitchell GA, Boycott K, Héon E
Hum Mutat. 2011
PubMed ID: 21344540
Gene therapy prevents photoreceptor death and preserves retinal function in a Bardet-Biedl syndrome mouse model.
Simons DL, Boye SL, Hauswirth WW, Wu SM
Proc Natl Acad Sci U S A. 2011
PubMed ID: 21444805
Inactivation of Bardet-Biedl syndrome genes causes kidney defects.
Guo DF, Beyer AM, Yang B, Nishimura DY, Sheffield VC, Rahmouni K
Am J Physiol Renal Physiol. 2011
PubMed ID: 21106857
Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity.
Jagger D, Collin G, Kelly J, Towers E, Nevill G, Longo-Guess C, Benson J, Halsey K, Dolan D, Marshall J, Naggert J, Forge A
Hum Mol Genet. 2011
PubMed ID: 21071598
A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Diez-Roux G, Banfi S, Sultan M, Geffers L, Anand S, Rozado D, Magen A, Canidio E, Pagani M, Peluso I, Lin-Marq N, Koch M, Bilio M, Cantiello I, Verde R, De Masi C, Bianchi SA, Cicchini J, Perroud E, Mehmeti S, Dagand E, Schrinner S, Nürnberger A, Schmidt K, Metz K, Zwingmann C, Brieske N, Springer C, Hernandez AM, Herzog S, Grabbe F, Sieverding C, Fischer B, Schrader K, Brockmeyer M, Dettmer S, Helbig C, Alunni V, Battaini MA, Mura C, Henrichsen CN, Garcia-Lopez R, Echevarria D, Puelles E, Garcia-Calero E, Kruse S, Uhr M, Kauck C, Feng G, Milyaev N, Ong CK, Kumar L, Lam M, Semple CA, Gyenesei A, Mundlos S, Radelof U, Lehrach H, Sarmientos P, Reymond A, Davidson DR, Dollé P, Antonarakis SE, Yaspo ML, Martinez S, Baldock RA, Eichele G, Ballabio A
PLoS Biol. 2011
PubMed ID: 21267068
The planar cell polarity gene Vangl2 is required for mammalian kidney-branching morphogenesis and glomerular maturation.
Yates LL, Papakrivopoulou J, Long DA, Goggolidou P, Connolly JO, Woolf AS, Dean CH
Hum Mol Genet. 2010
PubMed ID: 20843830
Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip.
Booij JC, Bakker A, Kulumbetova J, Moutaoukil Y, Smeets B, Verheij J, Kroes HY, Klaver CC, van Schooneveld M, Bergen AA, Florijn RJ
Ophthalmology. 2010
PubMed ID: 20801516
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR
Mol Med. 2010
PubMed ID: 20379614
The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia.
Jin H, White SR, Shida T, Schulz S, Aguiar M, Gygi SP, Bazan JF, Nachury MV
Cell. 2010
PubMed ID: 20603001
Centrosome-related genes, genetic variation, and risk of breast cancer.
Olson JE, Wang X, Pankratz VS, Fredericksen ZS, Vachon CM, Vierkant RA, Cerhan JR, Couch FJ
Breast Cancer Res Treat. 2010
PubMed ID: 20508983
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.
Nishimura DY, Baye LM, Perveen R, Searby CC, Avila-Fernandez A, Pereiro I, Ayuso C, Valverde D, Bishop PN, Manson FD, Urquhart J, Stone EM, Slusarski DC, Black GC, Sheffield VC
Am J Hum Genet. 2010
PubMed ID: 20398886
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
Seo S, Baye LM, Schulz NP, Beck JS, Zhang Q, Slusarski DC, Sheffield VC
Proc Natl Acad Sci U S A. 2010
PubMed ID: 20080638
Increased litter size and super-ovulation rate in congenic C57BL mice carrying a polymorphic fragment of NFR/N origin at the Fecq4 locus of chromosome 9.
Liljander M, Andersson A, Holmdahl R, Mattsson R
Genet Res. 2009
PubMed ID: 19640321
Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling.
Seo S, Guo DF, Bugge K, Morgan DA, Rahmouni K, Sheffield VC
Hum Mol Genet. 2009
PubMed ID: 19150989
Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations.
Chung WK, Patki A, Matsuoka N, Boyer BB, Liu N, Musani SK, Goropashnaya AV, Tan PL, Katsanis N, Johnson SB, Gregersen PK, Allison DB, Leibel RL, Tiwari HK
Hum Hered. 2009
PubMed ID: 19077438
Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.
Hansen GM, Markesich DC, Burnett MB, Zhu Q, Dionne KM, Richter LJ, Finnell RH, Sands AT, Zambrowicz BP, Abuin A
Genome Res. 2008
PubMed ID: 18799693
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome.
Tobin JL, Di Franco M, Eichers E, May-Simera H, Garcia M, Yan J, Quinlan R, Justice MJ, Hennekam RC, Briscoe J, Tada M, Mayor R, Burns AJ, Lupski JR, Hammond P, Beales PL
Proc Natl Acad Sci U S A. 2008
PubMed ID: 18443298
Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome.
Rahmouni K, Fath MA, Seo S, Thedens DR, Berry CJ, Weiss R, Nishimura DY, Sheffield VC
J Clin Invest. 2008
PubMed ID: 18317593
Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia.
Berbari NF, Lewis JS, Bishop GA, Askwith CC, Mykytyn K
Proc Natl Acad Sci U S A. 2008
PubMed ID: 18334641
Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia.
Shah AS, Farmen SL, Moninger TO, Businga TR, Andrews MP, Bugge K, Searby CC, Nishimura D, Brogden KA, Kline JN, Sheffield VC, Welsh MJ
Proc Natl Acad Sci U S A. 2008
PubMed ID: 18299575
Toward a confocal subcellular atlas of the human proteome.
Barbe L, Lundberg E, Oksvold P, Stenius A, Lewin E, Björling E, Asplund A, Pontén F, Brismar H, Uhlén M, Andersson-Svahn H
Mol Cell Proteomics. 2008
PubMed ID: 18029348
Novel interaction partners of Bardet-Biedl syndrome proteins.
Oeffner F, Moch C, Neundorf A, Hofmann J, Koch M, Grzeschik KH
Cell Motil Cytoskeleton. 2008
PubMed ID: 18000879
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.
Davis RE, Swiderski RE, Rahmouni K, Nishimura DY, Mullins RF, Agassandian K, Philp AR, Searby CC, Andrews MP, Thompson S, Berry CJ, Thedens DR, Yang B, Weiss RM, Cassell MD, Stone EM, Sheffield VC
Proc Natl Acad Sci U S A. 2007
PubMed ID: 18032602
Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome.
Abd-El-Barr MM, Sykoudis K, Andrabi S, Eichers ER, Pennesi ME, Tan PL, Wilson JH, Katsanis N, Lupski JR, Wu SM
Vision Res. 2007
PubMed ID: 18022666
Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function.
Tan PL, Barr T, Inglis PN, Mitsuma N, Huang SM, Garcia-Gonzalez MA, Bradley BA, Coforio S, Albrecht PJ, Watnick T, Germino GG, Beales PL, Caterina MJ, Leroux MR, Rice FL, Katsanis N
Proc Natl Acad Sci U S A. 2007
PubMed ID: 17959775
Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage.
Swiderski RE, Nishimura DY, Mullins RF, Olvera MA, Ross JL, Huang J, Stone EM, Sheffield VC
Invest Ophthalmol Vis Sci. 2007
PubMed ID: 17591906
A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.
Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peränen J, Merdes A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson PK
Cell. 2007
PubMed ID: 17574030
Differences in renal tubule primary cilia length in a mouse model of Bardet-Biedl syndrome.
Mokrzan EM, Lewis JS, Mykytyn K
Nephron Exp Nephrol. 2007
PubMed ID: 17519557
Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis.
Forti E, Aksanov O, Birk RZ
Int J Biochem Cell Biol. 2007
PubMed ID: 17379567
A locus on mouse Chromosome 9 (Adip5) affects the relative weight of the gonadal but not retroperitoneal adipose depot.
McDaniel AH, Li X, Tordoff MG, Bachmanov AA, Reed DR
Mamm Genome. 2006
PubMed ID: 17103052
Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians.
Benzinou M, Walley A, Lobbens S, Charles MA, Jouret B, Fumeron F, Balkau B, Meyre D, Froguel P
Diabetes. 2006
PubMed ID: 17003356
Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.
Eichers ER, Abd-El-Barr MM, Paylor R, Lewis RA, Bi W, Lin X, Meehan TP, Stockton DW, Wu SM, Lindsay E, Justice MJ, Beales PL, Katsanis N, Lupski JR
Hum Genet. 2006
PubMed ID: 16794820
The primary cilium as the cell's antenna: signaling at a sensory organelle.
Singla V, Reiter JF
Science. 2006
PubMed ID: 16888132
BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system.
Magdaleno S, Jensen P, Brumwell CL, Seal A, Lehman K, Asbury A, Cheung T, Cornelius T, Batten DM, Eden C, Norland SM, Rice DS, Dosooye N, Shakya S, Mehta P, Curran T
PLoS Biol. 2006
PubMed ID: 16602821
Analysis of the DNA sequence and duplication history of human chromosome 15.
Zody MC, Garber M, Sharpe T, Young SK, Rowen L, O'Neill K, Whittaker CA, Kamal M, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Kodira CD, Madan A, Qin S, Yang X, Abbasi N, Abouelleil A, Arachchi HM, Baradarani L, Birditt B, Bloom S, Bloom T, Borowsky ML, Burke J, Butler J, Cook A, DeArellano K, DeCaprio D, Dorris L, Dors M, Eichler EE, Engels R, Fahey J, Fleetwood P, Friedman C, Gearin G, Hall JL, Hensley G, Johnson E, Jones C, Kamat A, Kaur A, Locke DP, Madan A, Munson G, Jaffe DB, Lui A, Macdonald P, Mauceli E, Naylor JW, Nesbitt R, Nicol R, O'Leary SB, Ratcliffe A, Rounsley S, She X, Sneddon KM, Stewart S, Sougnez C, Stone SM, Topham K, Vincent D, Wang S, Zimmer AR, Birren BW, Hood L, Lander ES, Nusbaum C
Nature. 2006
PubMed ID: 16572171
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.
Ross AJ, May-Simera H, Eichers ER, Kai M, Hill J, Jagger DJ, Leitch CC, Chapple JP, Munro PM, Fisher S, Tan PL, Phillips HM, Leroux MR, Henderson DJ, Murdoch JN, Copp AJ, Eliot MM, Lupski JR, Kemp DT, Dollfus H, Tada M, Katsanis N, Forge A, Beales PL
Nat Genet. 2005
PubMed ID: 16170314
Antisense transcription in the mammalian transcriptome.
Katayama S, Tomaru Y, Kasukawa T, Waki K, Nakanishi M, Nakamura M, Nishida H, Yap CC, Suzuki M, Kawai J, Suzuki H, Carninci P, Hayashizaki Y, Wells C, Frith M, Ravasi T, Pang KC, Hallinan J, Mattick J, Hume DA, Lipovich L, Batalov S, Engström PG, Mizuno Y, Faghihi MA, Sandelin A, Chalk AM, Mottagui-Tabar S, Liang Z, Lenhard B, Wahlestedt C, RIKEN Genome Exploration Research Group, Genome Science Group (Genome Network Project Core Group), FANTOM Consortium
Science. 2005
PubMed ID: 16141073
The transcriptional landscape of the mammalian genome.
Carninci P, Kasukawa T, Katayama S, Gough J, Frith MC, Maeda N, Oyama R, Ravasi T, Lenhard B, Wells C, Kodzius R, Shimokawa K, Bajic VB, Brenner SE, Batalov S, Forrest AR, Zavolan M, Davis MJ, Wilming LG, Aidinis V, Allen JE, Ambesi-Impiombato A, Apweiler R, Aturaliya RN, Bailey TL, Bansal M, Baxter L, Beisel KW, Bersano T, Bono H, Chalk AM, Chiu KP, Choudhary V, Christoffels A, Clutterbuck DR, Crowe ML, Dalla E, Dalrymple BP, de Bono B, Della Gatta G, di Bernardo D, Down T, Engstrom P, Fagiolini M, Faulkner G, Fletcher CF, Fukushima T, Furuno M, Futaki S, Gariboldi M, Georgii-Hemming P, Gingeras TR, Gojobori T, Green RE, Gustincich S, Harbers M, Hayashi Y, Hensch TK, Hirokawa N, Hill D, Huminiecki L, Iacono M, Ikeo K, Iwama A, Ishikawa T, Jakt M, Kanapin A, Katoh M, Kawasawa Y, Kelso J, Kitamura H, Kitano H, Kollias G, Krishnan SP, Kruger A, Kummerfeld SK, Kurochkin IV, Lareau LF, Lazarevic D, Lipovich L, Liu J, Liuni S, McWilliam S, Madan Babu M, Madera M, Marchionni L, Matsuda H, Matsuzawa S, Miki H, Mignone F, Miyake S, Morris K, Mottagui-Tabar S, Mulder N, Nakano N, Nakauchi H, Ng P, Nilsson R, Nishiguchi S, Nishikawa S, Nori F, Ohara O, Okazaki Y, Orlando V, Pang KC, Pavan WJ, Pavesi G, Pesole G, Petrovsky N, Piazza S, Reed J, Reid JF, Ring BZ, Ringwald M, Rost B, Ruan Y, Salzberg SL, Sandelin A, Schneider C, Schönbach C, Sekiguchi K, Semple CA, Seno S, Sessa L, Sheng Y, Shibata Y, Shimada H, Shimada K, Silva D, Sinclair B, Sperling S, Stupka E, Sugiura K, Sultana R, Takenaka Y, Taki K, Tammoja K, Tan SL, Tang S, Taylor MS, Tegner J, Teichmann SA, Ueda HR, van Nimwegen E, Verardo R, Wei CL, Yagi K, Yamanishi H, Zabarovsky E, Zhu S, Zimmer A, Hide W, Bult C, Grimmond SM, Teasdale RD, Liu ET, Brusic V, Quackenbush J, Wahlestedt C, Mattick JS, Hume DA, Kai C, Sasaki D, Tomaru Y, Fukuda S, Kanamori-Katayama M, Suzuki M, Aoki J, Arakawa T, Iida J, Imamura K, Itoh M, Kato T, Kawaji H, Kawagashira N, Kawashima T, Kojima M, Kondo S, Konno H, Nakano K, Ninomiya N, Nishio T, Okada M, Plessy C, Shibata K, Shiraki T, Suzuki S, Tagami M, Waki K, Watahiki A, Okamura-Oho Y, Suzuki H, Kawai J, Hayashizaki Y, FANTOM Consortium, RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group)
Science. 2005
PubMed ID: 16141072
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
Hichri H, Stoetzel C, Laurier V, Caron S, Sigaudy S, Sarda P, Hamel C, Martin-Coignard D, Gilles M, Leheup B, Holder M, Kaplan J, Bitoun P, Lacombe D, Verloes A, Bonneau D, Perrin-Schmitt F, Brandt C, Besancon AF, Mandel JL, Cossée M, Dollfus H
Eur J Hum Genet. 2005
PubMed ID: 15770229
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
Karmous-Benailly H, Martinovic J, Gubler MC, Sirot Y, Clech L, Ozilou C, Auge J, Brahimi N, Etchevers H, Detrait E, Esculpavit C, Audollent S, Goudefroye G, Gonzales M, Tantau J, Loget P, Joubert M, Gaillard D, Jeanne-Pasquier C, Delezoide AL, Peter MO, Plessis G, Simon-Bouy B, Dollfus H, Le Merrer M, Munnich A, Encha-Razavi F, Vekemans M, Attié-Bitach T
Am J Hum Genet. 2005
PubMed ID: 15666242
Essential role for the Prader-Willi syndrome protein necdin in axonal outgrowth.
Lee S, Walker CL, Karten B, Kuny SL, Tennese AA, O'Neill MA, Wevrick R
Hum Mol Genet. 2005
PubMed ID: 15649943
Gene and alternative splicing annotation with AIR.
Florea L, Di Francesco V, Miller J, Turner R, Yao A, Harris M, Walenz B, Mobarry C, Merkulov GV, Charlab R, Dew I, Deng Z, Istrail S, Li P, Sutton G
Genome Res. 2005
PubMed ID: 15632090
Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.
Nishimura DY, Fath M, Mullins RF, Searby C, Andrews M, Davis R, Andorf JL, Mykytyn K, Swiderski RE, Yang B, Carmi R, Stone EM, Sheffield VC
Proc Natl Acad Sci U S A. 2004
PubMed ID: 15539463
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Morrin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J, MGC Project Team
Genome Res. 2004
PubMed ID: 15489334
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.
Kulaga HM, Leitch CC, Eichers ER, Badano JL, Lesemann A, Hoskins BE, Lupski JR, Beales PL, Reed RR, Katsanis N
Nat Genet. 2004
PubMed ID: 15322545
Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly.
Mykytyn K, Mullins RF, Andrews M, Chiang AP, Swiderski RE, Yang B, Braun T, Casavant T, Stone EM, Sheffield VC
Proc Natl Acad Sci U S A. 2004
PubMed ID: 15173597
Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4).
Ye X, Dai J, Fang W, Jin W, Guo Y, Song J, Ji C, Gu S, Xie Y, Mao Y
DNA Seq. 2004
PubMed ID: 15497446
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression.
Kim JC, Badano JL, Sibold S, Esmail MA, Hill J, Hoskins BE, Leitch CC, Venner K, Ansley SJ, Ross AJ, Leroux MR, Katsanis N, Beales PL
Nat Genet. 2004
PubMed ID: 15107855
Genome sequence of the Brown Norway rat yields insights into mammalian evolution.
Gibbs RA, Weinstock GM, Metzker ML, Muzny DM, Sodergren EJ, Scherer S, Scott G, Steffen D, Worley KC, Burch PE, Okwuonu G, Hines S, Lewis L, DeRamo C, Delgado O, Dugan-Rocha S, Miner G, Morgan M, Hawes A, Gill R, Celera, Holt RA, Adams MD, Amanatides PG, Baden-Tillson H, Barnstead M, Chin S, Evans CA, Ferriera S, Fosler C, Glodek A, Gu Z, Jennings D, Kraft CL, Nguyen T, Pfannkoch CM, Sitter C, Sutton GG, Venter JC, Woodage T, Smith D, Lee HM, Gustafson E, Cahill P, Kana A, Doucette-Stamm L, Weinstock K, Fechtel K, Weiss RB, Dunn DM, Green ED, Blakesley RW, Bouffard GG, De Jong PJ, Osoegawa K, Zhu B, Marra M, Schein J, Bosdet I, Fjell C, Jones S, Krzywinski M, Mathewson C, Siddiqui A, Wye N, McPherson J, Zhao S, Fraser CM, Shetty J, Shatsman S, Geer K, Chen Y, Abramzon S, Nierman WC, Havlak PH, Chen R, Durbin KJ, Egan A, Ren Y, Song XZ, Li B, Liu Y, Qin X, Cawley S, Worley KC, Cooney AJ, D'Souza LM, Martin K, Wu JQ, Gonzalez-Garay ML, Jackson AR, Kalafus KJ, McLeod MP, Milosavljevic A, Virk D, Volkov A, Wheeler DA, Zhang Z, Bailey JA, Eichler EE, Tuzun E, Birney E, Mongin E, Ureta-Vidal A, Woodwark C, Zdobnov E, Bork P, Suyama M, Torrents D, Alexandersson M, Trask BJ, Young JM, Huang H, Wang H, Xing H, Daniels S, Gietzen D, Schmidt J, Stevens K, Vitt U, Wingrove J, Camara F, Mar Albà M, Abril JF, Guigo R, Smit A, Dubchak I, Rubin EM, Couronne O, Poliakov A, Hübner N, Ganten D, Goesele C, Hummel O, Kreitler T, Lee YA, Monti J, Schulz H, Zimdahl H, Himmelbauer H, Lehrach H, Jacob HJ, Bromberg S, Gullings-Handley J, Jensen-Seaman MI, Kwitek AE, Lazar J, Pasko D, Tonellato PJ, Twigger S, Ponting CP, Duarte JM, Rice S, Goodstadt L, Beatson SA, Emes RD, Winter EE, Webber C, Brandt P, Nyakatura G, Adetobi M, Chiaromonte F, Elnitski L, Eswara P, Hardison RC, Hou M, Kolbe D, Makova K, Miller W, Nekrutenko A, Riemer C, Schwartz S, Taylor J, Yang S, Zhang Y, Lindpaintner K, Andrews TD, Caccamo M, Clamp M, Clarke L, Curwen V, Durbin R, Eyras E, Searle SM, Cooper GM, Batzoglou S, Brudno M, Sidow A, Stone EA, Venter JC, Payseur BA, Bourque G, López-Otín C, Puente XS, Chakrabarti K, Chatterji S, Dewey C, Pachter L, Bray N, Yap VB, Caspi A, Tesler G, Pevzner PA, Haussler D, Roskin KM, Baertsch R, Clawson H, Furey TS, Hinrichs AS, Karolchik D, Kent WJ, Rosenbloom KR, Trumbower H, Weirauch M, Cooper DN, Stenson PD, Ma B, Brent M, Arumugam M, Shteynberg D, Copley RR, Taylor MS, Riethman H, Mudunuri U, Peterson J, Guyer M, Felsenfeld A, Old S, Mockrin S, Collins F, Rat Genome Sequencing Project Consortium
Nature. 2004
PubMed ID: 15057822
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S
Nat Genet. 2004
PubMed ID: 14702039
Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Zambrowicz BP, Abuin A, Ramirez-Solis R, Richter LJ, Piggott J, BeltrandelRio H, Buxton EC, Edwards J, Finch RA, Friddle CJ, Gupta A, Hansen G, Hu Y, Huang W, Jaing C, Key BW, Kipp P, Kohlhauff B, Ma ZQ, Markesich D, Payne R, Potter DG, Qian N, Shaw J, Schrick J, Shi ZZ, Sparks MJ, Van Sligtenhorst I, Vogel P, Walke W, Xu N, Zhu Q, Person C, Sands AT
Proc Natl Acad Sci U S A. 2003
PubMed ID: 14610273
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.
Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, Beales PL, Katsanis N
Nature. 2003
PubMed ID: 14520415
Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique.
Hoskins BE, Thorn A, Scambler PJ, Beales PL
Hum Mutat. 2003
PubMed ID: 12872256
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
Beales PL, Badano JL, Ross AJ, Ansley SJ, Hoskins BE, Kirsten B, Mein CA, Froguel P, Scambler PJ, Lewis RA, Lupski JR, Katsanis N
Am J Hum Genet. 2003
PubMed ID: 12677556
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
Mykytyn K, Nishimura DY, Searby CC, Beck G, Bugge K, Haines HL, Cornier AS, Cox GF, Fulton AB, Carmi R, Iannaccone A, Jacobson SG, Weleber RG, Wright AF, Riise R, Hennekam RC, Lüleci G, Berker-Karauzum S, Biesecker LG, Stone EM, Sheffield VC
Am J Hum Genet. 2003
PubMed ID: 12524598
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CF, Bhat NK, Hopkins RF, Jordan H, Moore T, Max SI, Wang J, Hsieh F, Diatchenko L, Marusina K, Farmer AA, Rubin GM, Hong L, Stapleton M, Soares MB, Bonaldo MF, Casavant TL, Scheetz TE, Brownstein MJ, Usdin TB, Toshiyuki S, Carninci P, Prange C, Raha SS, Loquellano NA, Peters GJ, Abramson RD, Mullahy SJ, Bosak SA, McEwan PJ, McKernan KJ, Malek JA, Gunaratne PH, Richards S, Worley KC, Hale S, Garcia AM, Gay LJ, Hulyk SW, Villalon DK, Muzny DM, Sodergren EJ, Lu X, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madan A, Young AC, Shevchenko Y, Bouffard GG, Blakesley RW, Touchman JW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Krzywinski MI, Skalska U, Smailus DE, Schnerch A, Schein JE, Jones SJ, Marra MA, Mammalian Gene Collection Program Team
Proc Natl Acad Sci U S A. 2002
PubMed ID: 12477932
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Okazaki Y, Furuno M, Kasukawa T, Adachi J, Bono H, Kondo S, Nikaido I, Osato N, Saito R, Suzuki H, Yamanaka I, Kiyosawa H, Yagi K, Tomaru Y, Hasegawa Y, Nogami A, Schönbach C, Gojobori T, Baldarelli R, Hill DP, Bult C, Hume DA, Quackenbush J, Schriml LM, Kanapin A, Matsuda H, Batalov S, Beisel KW, Blake JA, Bradt D, Brusic V, Chothia C, Corbani LE, Cousins S, Dalla E, Dragani TA, Fletcher CF, Forrest A, Frazer KS, Gaasterland T, Gariboldi M, Gissi C, Godzik A, Gough J, Grimmond S, Gustincich S, Hirokawa N, Jackson IJ, Jarvis ED, Kanai A, Kawaji H, Kawasawa Y, Kedzierski RM, King BL, Konagaya A, Kurochkin IV, Lee Y, Lenhard B, Lyons PA, Maglott DR, Maltais L, Marchionni L, McKenzie L, Miki H, Nagashima T, Numata K, Okido T, Pavan WJ, Pertea G, Pesole G, Petrovsky N, Pillai R, Pontius JU, Qi D, Ramachandran S, Ravasi T, Reed JC, Reed DJ, Reid J, Ring BZ, Ringwald M, Sandelin A, Schneider C, Semple CA, Setou M, Shimada K, Sultana R, Takenaka Y, Taylor MS, Teasdale RD, Tomita M, Verardo R, Wagner L, Wahlestedt C, Wang Y, Watanabe Y, Wells C, Wilming LG, Wynshaw-Boris A, Yanagisawa M, Yang I, Yang L, Yuan Z, Zavolan M, Zhu Y, Zimmer A, Carninci P, Hayatsu N, Hirozane-Kishikawa T, Konno H, Nakamura M, Sakazume N, Sato K, Shiraki T, Waki K, Kawai J, Aizawa K, Arakawa T, Fukuda S, Hara A, Hashizume W, Imotani K, Ishii Y, Itoh M, Kagawa I, Miyazaki A, Sakai K, Sasaki D, Shibata K, Shinagawa A, Yasunishi A, Yoshino M, Waterston R, Lander ES, Rogers J, Birney E, Hayashizaki Y, FANTOM Consortium, RIKEN Genome Exploration Research Group Phase I & II Team
Nature. 2002
PubMed ID: 12466851
The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene.
Riise R, Tornqvist K, Wright AF, Mykytyn K, Sheffield VC
Arch Ophthalmol. 2002
PubMed ID: 12365916
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.
Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR
Am J Hum Genet. 2002
PubMed ID: 12016587
Construction of long-transcript enriched cDNA libraries from submicrogram amounts of total RNAs by a universal PCR amplification method.
Piao Y, Ko NT, Lim MK, Ko MS
Genome Res. 2001
PubMed ID: 11544199
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.
Mykytyn K, Braun T, Carmi R, Haider NB, Searby CC, Shastri M, Beck G, Wright AF, Iannaccone A, Elbedour K, Riise R, Baldi A, Raas-Rothschild A, Gorman SW, Duhl DM, Jacobson SG, Casavant T, Stone EM, Sheffield VC
Nat Genet. 2001
PubMed ID: 11381270
Functional annotation of a full-length mouse cDNA collection.
Kawai J, Shinagawa A, Shibata K, Yoshino M, Itoh M, Ishii Y, Arakawa T, Hara A, Fukunishi Y, Konno H, Adachi J, Fukuda S, Aizawa K, Izawa M, Nishi K, Kiyosawa H, Kondo S, Yamanaka I, Saito T, Okazaki Y, Gojobori T, Bono H, Kasukawa T, Saito R, Kadota K, Matsuda H, Ashburner M, Batalov S, Casavant T, Fleischmann W, Gaasterland T, Gissi C, King B, Kochiwa H, Kuehl P, Lewis S, Matsuo Y, Nikaido I, Pesole G, Quackenbush J, Schriml LM, Staubli F, Suzuki R, Tomita M, Wagner L, Washio T, Sakai K, Okido T, Furuno M, Aono H, Baldarelli R, Barsh G, Blake J, Boffelli D, Bojunga N, Carninci P, de Bonaldo MF, Brownstein MJ, Bult C, Fletcher C, Fujita M, Gariboldi M, Gustincich S, Hill D, Hofmann M, Hume DA, Kamiya M, Lee NH, Lyons P, Marchionni L, Mashima J, Mazzarelli J, Mombaerts P, Nordone P, Ring B, Ringwald M, Rodriguez I, Sakamoto N, Sasaki H, Sato K, Schönbach C, Seya T, Shibata Y, Storch KF, Suzuki H, Toyo-oka K, Wang KH, Weitz C, Whittaker C, Wilming L, Wynshaw-Boris A, Yoshida K, Hasegawa Y, Kawaji H, Kohtsuki S, Hayashizaki Y, RIKEN Genome Exploration Research Group Phase II Team and the FANTOM Consortium
Nature. 2001
PubMed ID: 11217851
RIKEN integrated sequence analysis (RISA) system--384-format sequencing pipeline with 384 multicapillary sequencer.
Shibata K, Itoh M, Aizawa K, Nagaoka S, Sasaki N, Carninci P, Konno H, Akiyama J, Nishi K, Kitsunai T, Tashiro H, Itoh M, Sumi N, Ishii Y, Nakamura S, Hazama M, Nishine T, Harada A, Yamamoto R, Matsumoto H, Sakaguchi S, Ikegami T, Kashiwagi K, Fujiwake S, Inoue K, Togawa Y
Genome Res. 2000
PubMed ID: 11076861
Normalization and subtraction of cap-trapper-selected cDNAs to prepare full-length cDNA libraries for rapid discovery of new genes.
Carninci P, Shibata Y, Hayatsu N, Sugahara Y, Shibata K, Itoh M, Konno H, Okazaki Y, Muramatsu M, Hayashizaki Y
Genome Res. 2000
PubMed ID: 11042159
Genome-wide expression profiling of mid-gestation placenta and embryo using a 15,000 mouse developmental cDNA microarray.
Tanaka TS, Jaradat SA, Lim MK, Kargul GJ, Wang X, Grahovac MJ, Pantano S, Sano Y, Piao Y, Nagaraja R, Doi H, Wood WH, Becker KG, Ko MS
Proc Natl Acad Sci U S A. 2000
PubMed ID: 10922068
Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development.
Ko MS, Kitchen JR, Wang X, Threat TA, Wang X, Hasegawa A, Sun T, Grahovac MJ, Kargul GJ, Lim MK, Cui Y, Sano Y, Tanaka T, Liang Y, Mason S, Paonessa PD, Sauls AD, DePalma GE, Sharara R, Rowe LB, Eppig J, Morrell C, Doi H
Development. 2000
PubMed ID: 10725249
High-efficiency full-length cDNA cloning.
Carninci P, Hayashizaki Y
Methods Enzymol. 1999
PubMed ID: 10349636
Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.
Bruford EA, Riise R, Teague PW, Porter K, Thomson KL, Moore AT, Jay M, Warburg M, Schinzel A, Tommerup N, Tornqvist K, Rosenberg T, Patton M, Mansfield DC, Wright AF
Genomics. 1997
PubMed ID: 9126487
Normalization and subtraction: two approaches to facilitate gene discovery.
Bonaldo MF, Lennon G, Soares MB
Genome Res. 1996
PubMed ID: 8889548
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15.
Carmi R, Rokhlina T, Kwitek-Black AE, Elbedour K, Nishimura D, Stone EM, Sheffield VC
Hum Mol Genet. 1995
PubMed ID: 7711739
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	Human	Mouse	Rat
Entrez Gene	585	102774	300754
EnsEMBL Gene(s)	ENSG00000140463	ENSMUSG00000025235	ENSRNOG00000026171
Unigene	Hs.208681	Mm.200714	Rn.25002
Homologene	BBS4	Bbs4	Bbs4
OMIM	600374	N/A	N/A
GeneCards	BBS4	N/A	N/A
Beta Cell Genomics	DT.100667713 DT.100773220 DT.216161	DT.40179913	N/A
Reactome	N/A	N/A	N/A
Plasma Peptide Atlas	N/A	N/A	N/A
WikiGenes	585	102774	300754

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