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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BBS2 Gene

protein-coding   GIFtS: 53
GCID: GC16M056569

Bardet-Biedl syndrome 2


(Previous symbol: BBS)
 Explore 17 diseases affiliated with
BBS2 via our new
 Human Malady Compendium 
Biological research products
for BBS2
    

(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

External Ids:    HGNC: 9671   Entrez Gene: 5832   Ensembl: ENSG000001251247   OMIM: 6061515   UniProtKB: Q9BXC93   

Export aliases for BBS2 gene to outside databases

Previous GC identifers: GC16M046902 GC16M056238 GC16M056293 GC16M055075 GC16M042388


(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 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.(provided by RefSeq, Jan 2009)

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 RAB3IP/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 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

SwitchGear Promoter luciferase reporter plasmidBBS2 promoter sequence
   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: 16q21

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M056569:  view genomic region     (about GC identifiers)

Start:
56,500,748 bp from pter      End:
56,554,195 bp from pter
Size:
53,448 bases      Orientation:
minus strand

(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 complex
binds 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 centriolar
satellites in the cytoplasm
Secondary accessions: Q96CM0 Q96SN9

Explore the universe of human proteins at neXtProt for BBS2: NX_Q9BXC9

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BXC9

  • BBS2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_114091.3  
    ENSEMBL proteins: 
     ENSP00000463176   ENSP00000463731   ENSP00000456289   ENSP00000245157   ENSP00000454986  
     ENSP00000455651   ENSP00000456741  

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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for BBS2

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005932microtubule basal body IDA18299575
    GO:0031514motile cilium IDA18299575
    GO:0034464BBSome IDA17574030
    GO:0060170cilium membrane IEA--


    BBS2 for ontologies           About GeneDecksing



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    (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:
     IPR016616 Bardet-Biedl_syndrome_2_prot
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q9BXC9

    ProtoNet protein and cluster: Q9BXC9


    (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, 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 RAB3IP/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

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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18000879


    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):
     adipose tissue  behavior/neurological  digestive/alimentary  endocrine/exocrine gland  growth/size 
     integument  limbs/digits/tail  liver/biliary system  nervous system  normal 
     renal/urinary system  reproductive system  taste/olfaction  vision/eye 

    BBS2 for phenotypes           About GeneDecksing


    (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)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALDOBP050621, 3, ENSP000003639884EBI-748297,EBI-1045507 I2D: score=1 STRING: ENSP00000363988
    BBS1Q8NFJ91, 3EBI-748297,EBI-1805484 I2D: score=2 
    BBS9Q3SYG41, 3, ENSP000002420674EBI-748297,EBI-2826852 I2D: score=1 STRING: ENSP00000242067
    BBS7Q8IWZ61, 3, ENSP000002644994EBI-748297,EBI-1806001 I2D: score=2 STRING: ENSP00000264499
    PSME3P612892, 3, ENSP000002933624MINT-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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007288sperm axoneme assembly ISS--
    GO:0008104protein localization ISS--
    GO:0010629negative regulation of gene expression IEA--
    GO:0021756striatum development ISS--
    GO:0021766hippocampus development ISS--


    BBS2 for ontologies           About GeneDecksing



    (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 Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BBS2
    Search CenterWatch for drugs/clinical trials and news about BBS2 

    (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,
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    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: AB208905
    18/21 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


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    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

    (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

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    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, Q9BXC9
    Tissue specificity: Widely expressed

        SABiosciences Expression via Pathway-Focused PCR Array including BBS2: 
              Primary Cilia in human mouse rat

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    (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
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bbs21 , 5 Bardet-Biedl syndrome 2 (human)1, 5 86.87(n)1
    90.15(a)1
      8 (46.14 cM)5
    673781  NM_026116.21  NP_080392.11 
     940679545 
    chicken
    (Gallus gallus)
    Aves BBS21 Bardet-Biedl syndrome 2 72.86(n)
    77.95(a)
      415694  NM_001012777.1  NP_001012795.1 
    lizard
    (Anolis carolinensis)
    Reptilia BBS26
    --
    76(a)
    1 ↔ 1
    GL343675.1(121687-146647)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.143392 Xenopus laevis transcribed sequence with moderate similarity more 78.53(n)    BM192338.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bbs22 Bardet-Biedl syndrome 2 75.54(n)   259187  AF342739.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0096371 AGAP009637-PA 47.79(n)
    36.8(a)
      1279013  XM_318670.4  XP_318670.4 
    worm
    (Caenorhabditis elegans)
    Secernentea F20D12.33
    bbs-21
    Protein BBS-21 32(a)3
    46.63(n)1
    34.85(a)1
      IV(7934315-7937846)3
    2595801  NM_068924.11  NP_501325.11 


    ENSEMBL Gene Tree for BBS2 (if available)
    TreeFam Gene Tree for BBS2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/601 NCBI SNPs in BBS2 are shown (see all 601    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs770195291,2
    C,F,non-pathogenic42414280(+) GAGGTG/TGAGCT 1 -- int11Minor allele frequency- T:0.08WA 118
    rs1219081771,2
    Cpathogenic42407127(-) GTGACC/TGAACT 2 R * stg11Minor allele frequency- T:0.00EU 1313
    rs1219081751,2
    C,pathogenic42424122(-) CGCTAC/GGACGG 2 Y * stg10--------
    rs169575381,2
    C,F,H,untested42404131(+) GTTCTG/ACAATG 2 /A /V mis1 ese319Minor allele frequency- A:0.02NA NS EA WA 6394
    rs173419651,2
    C,F,H,--42388782(+) CTCAAT/CTGCAA 1 -- ut316Minor allele frequency- C:0.03NA NS CSA WA 358
    rs153351,2
    C--42388794(+) TTCAAG/AAAAAA 1 -- ut311Minor allele frequency- A:0.00MN 184
    rs766333841,2
    --42389661(+) TCCTTC/TGGGTT 1 -- int10--------
    rs1126988431,2
    F--42390231(+) TACGGT/ATAAGT 1 -- int12Minor allele frequency- A:0.50CSA 8
    rs781649561,2
    F,--42392311(+) AGAGAT/CAAAGA 1 -- int11Minor allele frequency- C:0.08WA 118
    rs790559071,2
    F,--42392868(+) AGTATT/CAGGGA 1 -- int11Minor allele frequency- C:0.06NA 120

    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
    DNA2.0 Custom Variant and Variant Library Synthesis for BBS2

    (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 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

    17 diseases for BBS2:    About MalaCards
    bardet-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

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bardet-biedl syndrome 95.5 8 20142850 (2), 16606853 (1), 12677556 (1), 11285252 (1) (see all 5)
    polydactyly 87.2 4 16606853 (1), 20142850 (1)
    heart defects congenital 65.5 1 16606853 (1)
    retinitis pigmentosa 63.9 1 16606853 (1)
    disease transmission 59.9 1 12677556 (1)
    obesity 51.7 4 16606853 (1), 20142850 (1)

    GeneTests: BBS2
    Bardet-Biedl Syndrome

    Human Genome Epidemiology (HuGE) Navigator: BBS2 (6 documents)

    Export disorders for BBS2 gene to outside databases

    (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

    1. 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)
    2. 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)
    3. Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder. (PubMed id 11567139)1, 2, 9 Katsanis N.... Lupski J.R. (2001)
    4. 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)
    5. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. (PubMed id 16327777)1, 2 Badano J.L....Katsanis N. (2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. 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)
    8. 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)
    9. 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)
    10. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    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, Kegg, 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 PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BBS2 Pharmacogenomics, SNPs, Pathways
    Mutations of the BBS2 genehttp://www.retina-international.org/files/sci-news/bbs2mut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BBS2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    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



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     Regulatory tfbs in BBS2 promoter
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