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BBS2 Gene

protein-coding GIFtS: 59

GC16M055075

Bardet-Biedl syndrome 2
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: BBS)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
BBS ^²
MGC20703 ^²

Descriptions
Bardet-Biedl syndrome 2 ^²
Bardet-Biedl syndrome 2 protein ^²

External Ids
HGNC: 967¹
Entrez Gene: 583²
UniProtKB: Q9BXC9³
Ensembl: ENSG00000125124⁷

Search outside databases for aliases for BBS2 gene

Previous GC identifers: GC16M046902 GC16M056569 GC16M056238 GC16M056293

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for BBS2:

This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an

autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly,

renal malformation and mental retardation. The proteins encoded by BBS gene family members are

structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members

is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to

the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be

involved in intracellular trafficking via microtubule-related transport. The protein encoded by

this gene forms a multiprotein BBSome complex with six other BBS proteins.

UniProtKB/Swiss-Prot: BBS2_HUMAN, Q9BXC9

Function: The BBSome complex is required for ciliogenesis but is dispensable for centriolar

satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange

factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary

cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the

ciliary membrane and binds to Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the

Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base

of the ciliary membrane

Gene Wiki entry for BBS2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the BBS2 gene

Entrez Gene cytogenetic band: 16q21 Ensembl cytogenetic band: 16q13 HGNC cytogenetic band: 16q21

BBS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16M055075: (about GC identifiers)

Start:	55,075,798 bp from pter
End:	55,111,696 bp from pter
Size:	35,899 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000016.8 NT_010498.15

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: BBS2_HUMAN, Q9BXC9 (See protein sequence)

Recommended Name: Bardet-Biedl syndrome 2 protein

Size: 721 amino acids; 79871 Da

Subunit: Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10.

The BBSome complex binds to PCM1 and tubulin

Subcellular location: Cell projection, cilium membrane. Cytoplasm. Note=Localizes to nonmembranous

centriolar satellites in the cytoplasm

Secondary accessions: Q96CM0 Q96SN9

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_114091.3

ENSEMBL proteins:

ENSP00000245157

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (BBS2)
	Human Recombinant Proteins from Abnova (BBS2)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--
GO:0005886	plasma membrane	IEA	--
GO:0005932	microtubule basal body	IDA	18299575
GO:0031514	motile secondary cilium	IDA	18299575
GO:0034464	BBSome	IDA	17574030

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Antibodies for BBS2:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse Antibodies at Sigma-Aldrich
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (BBS2), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (BBS2)
	Novus Biologicals Antibodies for BBS2

Assays for BBS2:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry Q9BXC9

ProtoNet protein and cluster: Q9BXC9

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (BBS2)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_031885

Applied Biosystems Silencer® siRNAs for BBS2

Sigma-Aldrich siRNA for BBS2

Sigma-Aldrich shRNA for BBS2

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for BBS2
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_031885
Myc/DDK tagged cDNA clone in CMV expression vector: NM_031885
untagged cDNA clone in CMV expression vector: NM_031885

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_031885

UniProtKB/Swiss-Prot: BBS2_HUMAN, Q9BXC9

Function: The BBSome complex is required for ciliogenesis but is dispensable for centriolar

satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange

factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary

cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the

ciliary membrane and binds to Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the

Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base

of the ciliary membrane

15 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Bbs2):

adipose tissue	behavior/neurological	digestive/alimentary	endocrine/exocrine gland	growth/size
hearing/vestibular/ear	limbs/digits/tail	liver/biliary system	nervous system	normal
renal/urinary system	reproductive system	taste/olfaction	touch/vibrissae	vision/eye

1 Gene Ontology (GO) molecular function term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	18000879

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Gene Network Central^TM Interacting Genes and Proteins Network for BBS2

3 Interacting proteins for BBS2 (Q9BXC9^{1, 2}) via UniProtKB, MINT, and/or STRING
Interactant Interaction Details
GeneCard External ID(s)
ALDOB P05062¹ EBI-748297, EBI-1045507
EEF1A1 P68104¹ EBI-748297, EBI-352162
PSME3 P61289² MINT-67253
About this table
5/15 Gene Ontology (GO) biological process terms (links to tree view) (see all 15 ):
GO ID Qualified GO term Evidence PubMed IDs
GO:0007288 sperm axoneme assembly IEA --
GO:0008104 protein localization IEA --
GO:0021756 striatum development IEA --
GO:0021766 hippocampus development IEA --
GO:0021987 cerebral cortex development IEA --
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for BBS2

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (BBS2)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_031885

Sigma-Aldrich siRNA for BBS2

Sigma-Aldrich shRNA for BBS2

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_031885

REFSEQ mRNAs for BBS2 gene:

NM_031885.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_031885

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_031885
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_031885
                                 untagged cDNA clone in CMV expression vector: NM_031885

Additional cDNA sequence:

AB208905.1 AF342736.1 AK027635.1 AK127290.1 AK289604.1 AK309068.1 AL834176.1 BC014140.2

21 DOTS entries:

DT.120658081 DT.120658103 DT.120658164 DT.453804 DT.97857879 DT.92445987 DT.120658097 DT.120658139

DT.100656471 DT.101977065 DT.102843313 DT.86843701 DT.97779189 DT.102840067 DT.120658083 DT.120658162

DT.40113671 DT.92011461 DT.100827814 DT.100827819 DT.99974119

24/197 AceView cDNA sequences (see all 197 ):

BM750412 AA453929 BQ723595 BQ637343 AI186341 AA886451 AI825796 NM_031885

AA425190 AA400369 CA417330 AL834176 AA486738 CA431078 BM982214 AK127290

AI214476 AI419181 AA758478 BQ425797 AA907233 BG749914 BU526632 BQ929061

highest scoring ESTs for BBS2:

AA355548 AI825796 AI978558 AL602803 AU279779 BF515367 BF966526 BG480793 BG699292 BG703722

Unigene Cluster for BBS2:

Bardet-Biedl syndrome 2

Hs.333738 [show with all ESTs]

Unigene Representative Sequence: AB208905

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for BBS2 (see all 11 )

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3	^	4a	·	4b	^	5	^	6a	·	6b	·	6c	^	7	^	8	^	9a	·	9b	^	10	^	11	^	12a	·	12b	·	12c	^	13a	·	13b	·	13c	·	13d	^	14a	·
SP1:									-						-										-												-		-												-
SP2:
SP3:							-		-						-
SP4:															-
SP5:																																											-								-

ExUns:	14b	^	15a	·	15b	·	15c	^	16	^	17a	·	17b	^	18a	·	18b	^	19a	·	19b
SP1:			-								-
SP2:			-								-
SP3:
SP4:
SP5:			-

About this scheme

ECgene alternative splicing isoforms for BBS2

1 Ensembl transcript including schematic representation:

ENST00000245157

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

BBS2 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for BBS2

¹ / ² / ³

5 probe-sets matching BBS2 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
72933_r_at²^{, 3}	U95-E	1	1.00	1.00	0.73	0.90	AA355548	1.00	1.00	1.00	1
50398_at²^{, 3}	U95-B	1	1.00	1.00	0.89	1.20	N73642	0.80	1.00	0.91	1
70203_at²^{, 3}	U95-E	1	1.00	1.00	0.95	0.91	T78936	0.60	1.00	0.82	1
223227_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AF342736	0.80	0.88	0.84	1
223227_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks BBS2 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TGAAGATAGA

SOURCE GeneReport for Unigene cluster: Hs.333738
UniProtKB/Swiss-Prot: BBS2_HUMAN, Q9BXC9
Tissue specificity: Widely expressed

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for BBS2 gene from 5/12 species (see all 12 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	BBS2¹	--	Bardet-Biedl syndrome 2	91.38(n) 93.29(a)	478121 XM_535296.2 XP_535296.2
chimpanzee (Pan troglodytes)	BBS2¹	--	Bardet-Biedl syndrome 2	99.54(n) 99.58(a)	454102 XM_510980.2 XP_510980.2
cow (Bos taurus)	BBS2¹	--	Bardet-Biedl syndrome 2	89.6(n) 91.26(a)	533611 NM_001038160.1 NP_001033249.1
rat (Rattus norvegicus)	Bbs2¹	--	Bardet-Biedl syndrome 2 homolog (human)	86.08(n) 89.74(a)	113948 NM_053618.1 NP_446070.1
mouse (Mus musculus)	Bbs2^{1, 5}	8⁵	Bardet-Biedl syndrome 2 (human)^{1, 5}	86.82(n)¹ 90.01(a)¹	67378¹ NM_026116.2¹ NP_080392.1¹ AF342737⁵ AI447581⁵ (see all 10)

About this table Species with no ortholog for BBS2

ENSEMBL Gene Tree for BBS2

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/131 NCBI SNPs in BBS2 are shown (see all 131 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 71)

AB	SNP ID	Valid	Chr 16 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs4784677^1,2	C,F,H	55106002(+)	`TAATGT/CTGAGA`	1	N/S	mis¹		8	EU EA WA	838
	rs11373^1,2	C,F,H	55102676(-)	`ATGCAA/GTTGTG`	1	I/V	mis¹		11	EU EA WA MN NA	1204
	rs16957538^1,2	C,F,H	55091207(+)	`GTTCTG/ACAATG`	1	V/A	mis¹ ese³		12	NA EU EA WA	1052
	rs1128808^1,2	C,H	55092275(-)	`GGTTAC/AAGAAG`	1	X/Y	non¹		4	EU EA WA	404
	rs7184983^1,2	F,H	55112210(+)	`GTGAGG/ACCCCC`	1	--	ng3¹		4	EU EA WA	416
	rs17841923^1,2	F,H	55111619(+)	`AACTCT/CACTGA`	1	--	ut5¹ ese³		6	NA EU EA	440
	rs9889162^1,2	F,H	55113289(+)	`TTTAGT/ACCCCA`	1	--	ng3¹		4	EU EA WA	414
--	rs2303284^1,2	C,F	55111514(+)	`GGCTGC/TGCGGT`	1	--	ut5¹ ese³		3	EA MN	2002
	rs16964239^1,2	F,H	55111466(+)	`CCGTCC/AGCTCT`	1	--	ut5¹ ese³		7	NA EU EA WA	562
	rs4996619^1,2	H	55113471(+)	`gttctA/Cgacgg`	1	--	ng3¹		4	EU EA WA	420

About this table

HapMap Linkage Disequilibrium images for BBS2 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 606151 disorders: 209900

UniProtKB/Swiss-Prot: BBS2_HUMAN, Q9BXC9

Defects in BBS2 are the cause of Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900].

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder

characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly,

hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes

mellitus, hypertension and congenital heart disease. A relatively high incidence of BBS is found

in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most

likely due to the high rate of consaguinity in these populations and a founder effect

6 Novoseek disease relationships for BBS2 gene

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
bardet-biedl syndrome	95.42	4	16606853 (1), 12677556 (1), 11285252 (1), 16823392 (1)
polydactyly	86.38	1	16606853 (1)
heart defects congenital	67.27	1	16606853 (1)
retinitis pigmentosa	65.72	1	16606853 (1)
disease transmission	62.29	1	12677556 (1)
obesity	51.10	1	16606853 (1)

About this table

GeneTests: BBS2

Bardet-Biedl Syndrome

Human Gene Mutation Database: BBS2
Human Genome Epidemiology Navigator: BBS2 (2 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/29 PubMed articles for BBS2 gene (see all 29 ):

Positional cloning of a novel gene on chromosome 16q causing Bardet- Biedl syndrome (BBS2). (PubMed id 11285252)^{1, 2, 3, 4} Nishimura D.Y.... Sheffield V.C. (2001)
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. (PubMed id 12677556)^{1, 3, 4} Beales P.L....Katsanis N. (2003)
Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder. (PubMed id 11567139)^{1, 3, 4} Katsanis N.... Lupski J.R. (2001)
A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. (PubMed id 17574030)^{3, 4} Nachury M.V....Jackson P.K. (2007)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{3, 4} Ota T....Sugano S. (2004)
Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique. (PubMed id 12872256)^{3, 4} Hoskins B.E....Beales P.L. (2003)
Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations. (PubMed id 19077438)³ Chung W.K....Tiwari H.K. (2009)
Novel interaction partners of Bardet-Biedl syndrome proteins. (PubMed id 18000879)³ Oeffner F....Grzeschik K.H. (2008)
Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia. (PubMed id 18299575)³ Shah A.S....Welsh M.J. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 583	HGNC: 967	AceView: BBS2	Ensembl:ENSG00000125124	euGenes: HUgn583
ECgene: BBS2	H-InvDB: BBS2

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
Mutations of the BBS2 gene	http://www.retina-international.com/sci-news/bbs2mut.htm
GeneReviews	http://www.genetests.org/query?gene=BBS2

Licensable Technologies for BBS2
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for BBS2:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for BBS2-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for BBS2		Browse antibodies at Sigma-Aldrich
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for BBS2		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

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Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for BBS2

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BBS2 Gene

protein-coding GIFtS: 59

Aliases &
Descriptions
for BBS2

Summaries
for BBS2

Genomic Location
for BBS2

Proteins
for BBS2

Protein Domains/
Families
for BBS2

Gene Function
for BBS2

Pathways & Interactions
for BBS2

Drugs & Compounds
for BBS2

Transcripts
for BBS2

Expression
for BBS2

Orthologs
for BBS2

Paralogs
for BBS2

SNPs/Variants
for BBS2

Disorders & Mutations
for BBS2

Medical News
for BBS2

Publications
for BBS2

Search for BBS2

Genome Databases showing BBS2

Other Databases showing BBS2

Specialized Databases showing BBS2

Licensable Technologies
for BBS2

Services
for BBS2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

BBS2 Gene

protein-coding GIFtS: 59

Aliases & Descriptionsfor BBS2

Summariesfor BBS2

Genomic Locationfor BBS2

Proteinsfor BBS2

Protein Domains/Familiesfor BBS2

Gene Functionfor BBS2

Pathways & Interactionsfor BBS2

Drugs & Compoundsfor BBS2

Transcriptsfor BBS2

Expression for BBS2

Orthologsfor BBS2

Paralogsfor BBS2

SNPs/Variantsfor BBS2

Disorders & Mutationsfor BBS2

Medical Newsfor BBS2

Publicationsfor BBS2

Search for BBS2

Genome Databases showing BBS2

Other Databases showing BBS2

Specialized Databases showing BBS2

Licensable Technologiesfor BBS2

Servicesfor BBS2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for BBS2

Summaries
for BBS2

Genomic Location
for BBS2

Proteins
for BBS2

Protein Domains/
Families
for BBS2

Gene Function
for BBS2

Pathways & Interactions
for BBS2

Drugs & Compounds
for BBS2

Transcripts
for BBS2

Expression
for BBS2

Orthologs
for BBS2

Paralogs
for BBS2

SNPs/Variants
for BBS2

Disorders & Mutations
for BBS2

Medical News
for BBS2

Publications
for BBS2

Licensable Technologies
for BBS2

Services
for BBS2