BBS2 Gene
protein-coding GIFtS: 53
GCID: GC16M056569
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Bardet-Biedl syndrome 2 (Previous symbol: BBS)
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Aliases for BBS2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Bardet-Biedl Syndrome 21 2 | | BBS1 2 | | Bardet-Biedl Syndrome 2 Protein2 |
Export aliases for BBS2 gene to outside databasesPrevious GC identifers: GC16M046902 GC16M056238 GC16M056293 GC16M055075 GC16M042388 |
Summaries for BBS2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for BBS2: This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessivedisorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mentalretardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypesexhibited 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 proteinsmay also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this geneforms a multiprotein BBSome complex with six other BBS proteins.(provided by RefSeq, Jan 2009) UniProtKB/Swiss-Prot: BBS2_HUMAN, Q9BXC9Function: The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. Thisciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body andcontacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly theBBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of theciliary membrane Gene Wiki entry for BBS2
|
Genomic Views for BBS2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000016.9 NC_018927.1 NT_010498.15
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the BBS2 gene promoter: Bach1 CREB NF-AT4 deltaCREB Nkx2-5 NF-kappaB1 GATA-1 Other transcription factors
Search SABiosciences Chromatin IP Primers for BBS2
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BBS2 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 16q21 Ensembl cytogenetic band: 16q12.2 HGNC cytogenetic band: 16q21BBS2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 16 GeneLoc Exon Structure GeneLoc location for GC16M056569: view genomic region
(about GC identifiers)
Start:
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56,500,748 bp from pter |
End:
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56,554,195 bp from pter |
Size:
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53,448 bases |
Orientation:
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minus strand |
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Proteins for BBS2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| 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 complexbinds to PCM1 and tubulin. Interacts (via C-terminus) with BBS7. Interacts (via coiled coil domain) with MKKS.Interacts with CCDC28B
Subcellular location: Cell projection, cilium membrane. Cytoplasm. Note=Localizes to nonmembranous centriolarsatellites in the cytoplasm
Secondary accessions: Q96CM0 Q96SN9Explore the universe of human proteins at neXtProt for BBS2: NX_Q9BXC9
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9BXC9 BBS2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_114091.3 ENSEMBL proteins: ENSP00000463176 ENSP00000463731 ENSP00000456289 ENSP00000245157 ENSP00000454986 ENSP00000455651 ENSP00000456741 Human Recombinant Protein Products:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
BBS2 for ontologies About GeneDecksing
BBS2 Antibody Products: Assay Products for BBS2: |
Protein
Domains / Families for BBS2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
BBS2 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9BXC9ProtoNet protein and cluster: Q9BXC9 |
Function for BBS2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: BBS2_HUMAN, Q9BXC9Function: The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. Thisciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body andcontacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly theBBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of theciliary membrane
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BBS2 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BBS2 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: BBS2 (NM_031885) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BBS2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BBS2  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS2 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table
BBS2 for ontologies About GeneDecksing
Animal Models: Mouse knock-out Bbs2tm1Vcs for BBS2 14 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Bbs2):
BBS2 for phenotypes About GeneDecksing
|
Pathways & Interactions for BBS2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BBS2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
 5/29 Interacting proteins for BBS2 (Q9BXC91, 2, 3 ENSP000002451574) via UniProtKB, MINT, STRING, and/or I2D (see all 29)| Interactant | Interaction Details |
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| GeneCard | External ID(s) |
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| ALDOB | P050621, 3, ENSP000003639884 | EBI-748297,EBI-1045507 I2D:
score=1 STRING: ENSP00000363988 | | BBS1 | Q8NFJ91, 3 | EBI-748297,EBI-1805484 I2D:
score=2 | | BBS9 | Q3SYG41, 3, ENSP000002420674 | EBI-748297,EBI-2826852 I2D:
score=1 STRING: ENSP00000242067 | | BBS7 | Q8IWZ61, 3, ENSP000002644994 | EBI-748297,EBI-1806001 I2D:
score=2 STRING: ENSP00000264499 | | PSME3 | P612892, 3, ENSP000002933624 | MINT-67253 I2D:
score=5 STRING: ENSP00000293362 | About this table
Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20): About this table
BBS2 for ontologies About GeneDecksing
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Drugs & Compounds for BBS2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for BBS2 Search CenterWatch for drugs/clinical trials and news about BBS2 
|
Transcripts for BBS2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for BBS2 gene: NM_031885.3 Unigene Cluster for BBS2: Bardet-Biedl syndrome 2 Hs.333738 [show with all ESTs]Unigene Representative Sequence: AB20890518/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21): ENST00000564123 ENST00000564459 ENST00000568104 ENST00000565781(uc010ccg.2) ENST00000245157(uc002ejd.2) ENST00000562813 ENST00000569192 ENST00000566495 ENST00000561877 ENST00000566410 ENST00000566452 ENST00000566210 ENST00000562012 ENST00000562059 ENST00000569342 ENST00000561951 ENST00000561853 ENST00000565859
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BBS2 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BBS2 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: BBS2 (NM_031885) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BBS2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BBS2  |
Additional cDNA sequence: AB208905.1 AF342736.1 AK027635.1 AK127290.1 AK289604.1 AK309068.1 AL834176.1 BC014140.2 18 DOTS entries: DT.120658081 DT.120658103 DT.120658164 DT.97857879 DT.453804 DT.92445987 DT.120658097 DT.120658139 DT.100656471 DT.101977065 DT.102843313 DT.86843701 DT.97779189 DT.102840067 DT.120658162 DT.40113671 DT.92011461 DT.99974119 24/197 AceView cDNA sequences (see all 197): AA486738 CA388648 AL119173 BQ574271 BM717773 BQ723595 T08772 AI978558 CA431078 AA907233 AI080258 BQ425797 AI825796 AI521029 BE855736 AK127290 BG749914 AL834176 AA724481 BQ637343 BU526632 AA400369 CA417330 BX642756 GeneLoc Exon Structure
5/11 Alternative Splicing Database (ASD) splice patterns (SP) for BBS2 (see all 11) About this scheme
| 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: | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for BBS2
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Expression for BBS2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| BBS2 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TGAAGATAGA
About this image See BBS2 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for BBS2
SOURCE GeneReport for Unigene cluster: Hs.333738 UniProtKB/Swiss-Prot: BBS2_HUMAN, Q9BXC9Tissue specificity: Widely expressed SABiosciences Expression via Pathway-Focused PCR Array including BBS2:
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BBS2 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat BBS2 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BBS2 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BBS2 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS2 |
Orthologs for BBS2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for BBS2 gene from 7/23 species (see all 23) About this table
ENSEMBL Gene Tree for BBS2 (if available) TreeFam Gene Tree for BBS2 (if available)  |
Paralogs for BBS2 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| -- |
Genomic Variants for BBS2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 16 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for BBS2 (56500748 - 56554195 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for BBS2: -- Human Gene Mutation Database (HGMD): BBS2
Locus Specific Mutation Databases (LSDB): BBS2
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BBS2 |
|
Disorders
/ Diseases for BBS2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
BBS2 for disorders About GeneDecksing
OMIM gene information: 606151 OMIM 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 featuresinclude diabetes mellitus, hypertension and congenital heart disease. A relatively high incidence of BBS is found inthe mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the highrate of consaguinity in these populations and a founder effect 17 diseases for BBS2: About MalaCardsbardet-biedl syndrome bardet-biedl syndrome 2 pigmentary retinopathy polydactyly laurence-moon syndrome mckusick-kaufman syndrome obesity tetralogy of fallot fundus dystrophy intellectual disability meckel syndrome hirschsprung's disease retinal degeneration retinitis hypogonadism retinal disease cerebritis 4 diseases from the University of Copenhagen DISEASES database for BBS2:Polydactyly Apperceptive agnosia Associative agnosia Fundus dystrophy 6 Novoseek disease relationships for BBS2 gene About this table
GeneTests: BBS2 Bardet-Biedl Syndrome Human Genome Epidemiology (HuGE) Navigator: BBS2 (6 documents) Export disorders for BBS2 gene to outside databases
|
Publications for BBS2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for BBS2 gene, integrated from 9 sources (see all 45): (articles sorted by number of sources associating them with BBS2) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Positional cloning of a novel gene on chromosome 16q causing Bardet- Biedl syndrome (BBS2). (PubMed id 11285252)1, 2, 3, 9 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, 2, 9 Beales P.L.... Katsanis N. (2003)
- Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder. (PubMed id 11567139)1, 2, 9 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)1, 2 Nachury M.V....Jackson P.K. (2007)
- Dissection of epistasis in oligogenic Bardet-Biedl syndrome. (PubMed id 16327777)1, 2 Badano J.L....Katsanis N. (2006)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique. (PubMed id 12872256)1, 2 Hoskins B.E....Beales P.L. (2003)
- Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
- The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)
|
External Searches for BBS2 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing BBS2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing BBS2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing BBS2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for BBS2 | Pharmacogenomics, SNPs, Pathways | | Mutations of the BBS2 gene | http://www.retina-international.org/files/sci-news/bbs2mut.htm | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BBS2 |
|
| | |
About This Section
| Patent Information for BBS2 gene: Search GeneIP for patents involving BBS2
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for BBS2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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| | | | Browse OriGene Antibodies | | OriGene shRNA RFP for BBS2 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BBS2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BBS2 | | OriGene Protein Over-expression Lysate for BBS2 | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for BBS2 | | OriGene 3'-UTR Clone for BBS2 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BBS2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BBS2 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for BBS2 | | OriGene Custom Protein Services for BBS2 | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat BBS2 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BBS2 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BBS2 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BBS2 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BBS2 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BBS2 |
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| | | Search Tocris compounds for BBS2 |
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 | | BBS2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS2 |
|  |  |  | | | Search ThermoFisher Antibodies for BBS2 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BBS2 |
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