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BBS2 Gene

protein-coding   GIFtS: 57
GCID: GC16M056500

Bardet-Biedl Syndrome 2


(Previous symbol: BBS)
  See BBS2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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 GC16M056569 GC16M056238 GC16M056293 GC16M055075 GC16M042388


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for BBS2 Gene:
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)

GeneCards Summary for BBS2 Gene:
BBS2 (Bardet-Biedl syndrome 2) is a protein-coding gene. Diseases associated with BBS2 include pigmentary retinopathy, and agnosia.

UniProtKB/Swiss-Prot: BBS2_HUMAN, Q9BXC9
Function: The BBSome complex is thought to function as a coat complex required for sorting of specific membrane
proteins to the primary cilia. 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. The BBSome complex, together with the LTZL1,
controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for
proper BBSome complex assembly and its ciliary localization

Gene Wiki entry 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_010498.16  NC_018927.2  
Regulatory elements:
   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 Chromatin IP Primers for BBS2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC16M056500:  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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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/TTC8, BBS9 and BBIP10. Interacts
(via C-terminus) with BBS7. Interacts (via coiled coil domain) with MKKS. Interacts with CCDC28B and ALDOB
Secondary accessions: Q96CM0 Q96SN9

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

Explore proteomics data for BBS2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys39, Lys231, Lys345, Lys360, Lys609, Lys659, Lys673, Lys691, Lys712
  • Modification sites at PhosphoSitePlus

  • See BBS2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    BBS2 Human Recombinant Protein Products:

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    antibodies-online proteins for BBS2 (3 products) 

     
    antibodies-online peptides for BBS2

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     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


    Find genes that share domains with BBS2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BBS2_HUMAN, Q9BXC9
    Function: The BBSome complex is thought to function as a coat complex required for sorting of specific membrane
    proteins to the primary cilia. 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. The BBSome complex, together with the LTZL1,
    controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for
    proper BBSome complex assembly and its ciliary localization

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001103RNA polymerase II repressing transcription factor binding IPI--
    GO:0005515protein binding IPI16327777
         
    Find genes that share ontologies with BBS2           About GenesLikeMe


    Phenotypes:
         14 MGI mutant phenotypes (inferred from 1 allele(MGI details for Bbs2):
     adipose tissue  behavior/neurological  digestive/alimentary  endocrine/exocrine gland  growth/size/body 
     integument  limbs/digits/tail  liver/biliary system  nervous system  normal 
     renal/urinary system  reproductive system  taste/olfaction  vision/eye 

    Find genes that share phenotypes with BBS2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Bbs2tm1Vcs for BBS2

       genOway: Develop your customized and physiologically relevant rodent model for BBS2

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    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BBS2_HUMAN, Q9BXC9: Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing
    center, centrosome, centriolar satellite
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton4
    mitochondrion3
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0031514motile cilium IDA18299575
    GO:0034464BBSome IDA17574030
    GO:0036064ciliary basal body IDA18299575
    GO:0060170ciliary membrane IEA--

    Find genes that share ontologies with BBS2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including BBS2: 
              Primary Cilia in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BBS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for BBS2 (Q9BXC91, 2, 3 ENSP000002451574) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALDOBP050621, 3, ENSP000003639884EBI-748297,EBI-1045507 I2D: score=1 STRING: ENSP00000363988
    BBS1Q8NFJ91, 3EBI-748297,EBI-1805484 I2D: score=2 
    ENSG00000206379O759553, ENSP000003728734I2D: score=1 STRING: ENSP00000372873
    ENSG00000206480O759553I2D: score=1 
    ENSG00000230143O759553I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 26):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007288sperm axoneme assembly ISS--
    GO:0007601visual perception IEA--
    GO:0008104protein localization ISS--
    GO:0010629negative regulation of gene expression IEA--
    GO:0014824artery smooth muscle contraction IEA--

    Find genes that share ontologies with BBS2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BBS2



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    Selected 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

    miRNA
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    hsa-miR-498
    SwitchGear 3'UTR luciferase reporter plasmidBBS2 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat BBS2

    Additional mRNA sequence: 

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

    20 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.40113671  DT.100827814 
    DT.100827819  DT.120658162  DT.92011461  DT.99974119 

    Selected AceView cDNA sequences (see all 197):

    BX642756 BU526632 BG749914 BM750412 AI214476 T08772 AA453929 BM997019 
    AI825796 AA425759 BM717773 BQ929061 CA431078 AK127290 CA388648 AA716390 
    AA724481 BQ723595 AI080258 NM_031885 AL834176 AI419181 N29085 AI978558 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BBS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAAGATAGA
    BBS2 Expression
    About this image


    BBS2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Ovary (Reproductive System)
             Oviduct
     
     Eye (Sensory Organs)
             Retina
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Adrenal Gland (Endocrine System)
    BBS2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BBS2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.333738

    UniProtKB/Swiss-Prot: BBS2_HUMAN, Q9BXC9
    Tissue specificity: Widely expressed

        Pathway & Disease-focused RT2 Profiler PCR Array including BBS2: 
              Primary Cilia in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS2

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for BBS2 gene from Selected species (see all 16)    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
    Bardet-Biedl syndrome 2
    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 AgaP_AGAP009637 47.93(n)
    36.95(a)
      1279013  XM_318670.4  XP_318670.4 
    worm
    (Caenorhabditis elegans)
    Secernentea F20D12.33
    bbs-21
    bbs-21 32(a)3
    47.07(n)1
    35.34(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)
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    Paralogs for BBS2 gene
    1 SIMAP similar gene for BBS2 using alignment to 6 protein entries:     BBS2_HUMAN (see all proteins):
    DKFZp434I052

    Find genes that share paralogs with BBS2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BBS2 (see all 800)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs47846771,2,,4
    C,F,HBardet-Biedl syndrome 2 (BBS2)4 pathogenic157561797(+) TAATGT/CTGAGA 2 /N /S mis123Minor allele frequency- C:0.00NS EA WA NA CSA EU 7276
    VAR_0388914
    Bardet-Biedl syndrome 2 (BBS2)4--see VAR_0388912 L W mis40--------
    VAR_0662814
    Bardet-Biedl syndrome 2 (BBS2)4--see VAR_0662812 L R mis40--------
    VAR_0131634
    Bardet-Biedl syndrome 2 (BBS2)4--see VAR_0131632 V G mis40--------
    VAR_0662834
    Bardet-Biedl syndrome 2 (BBS2)4--see VAR_0662832 C W mis40--------
    VAR_0131664
    Bardet-Biedl syndrome 2 (BBS2)4--see VAR_0131662 R Q mis40--------
    VAR_0662844
    Bardet-Biedl syndrome 2 (BBS2)4--see VAR_0662842 Y C mis40--------
    VAR_0131644
    Bardet-Biedl syndrome 2 (BBS2)4--see VAR_0131642 D A mis40--------
    VAR_0131694
    Bardet-Biedl syndrome 2 (BBS2)4--see VAR_0131692 R P mis40--------
    VAR_0388894
    Bardet-Biedl syndrome 2 (BBS2)4--see VAR_0388892 R P mis40--------

    HapMap Linkage Disequilibrium report for BBS2 (56500748 - 56554195 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for BBS2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833243CNV Gain17160897

    Human Gene Mutation Database (HGMD): BBS2
    Locus Specific Mutation Databases (LSDB): BBS2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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.)
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    OMIM gene information: 606151   
    OMIM disorders: 209900  
    UniProtKB/Swiss-Prot: BBS2_HUMAN, Q9BXC9
  • Bardet-Biedl syndrome 2 (BBS2) [MIM:209900]: A syndrome 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. Bardet-Biedl syndrome
    inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus)
    may be required for clinical manifestation of some forms of the disease. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for BBS2 (see all 32):    
    About MalaCards
    pigmentary retinopathy    agnosia    bardet-biedl syndrome 2    bbs2-related bardet-biedl syndrome
    apperceptive agnosia    associative agnosia    cold-induced sweating syndrome 1    cold-induced sweating syndrome
    bardet-biedl syndrome 10    bardet-biedl syndrome 1, modifier of    bardet-biedl syndrome 15    bardet-biedl syndrome 12
    bardet-biedl syndrome 1    mckusick-kaufman syndrome    bardet-biedl syndrome 3    bardet-biedl syndrome 8
    bardet-biedl syndrome 13    bardet-biedl syndrome    bardet-biedl syndrome 9    bardet-biedl syndrome 14, modifier of

    5 diseases from the University of Copenhagen DISEASES database for BBS2:
    Bardet-Biedl syndrome     Polydactyly     Apperceptive agnosia     Associative agnosia
    Fundus dystrophy

    Find genes that share disorders with BBS2           About GenesLikeMe

    6 Novoseek inferred 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
    GeneReviews: BBS2
    Genetic Association Database (GAD): BBS2
    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)
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    PubMed articles for BBS2 gene, integrated from 10 sources (see all 49):
    (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. (Hum. Mol. Genet. 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. (Am. J. Hum. Genet. 2003)
    3. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. (PubMed id 11567139)1, 2, 9 Katsanis N.... Lupski J.R. (Science 2001)
    4. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (Ophthalmology 2011)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. 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)1, 4 Chung W.K....Tiwari H.K. (Hum. Hered. 2009)
    7. Novel interaction partners of Bardet-Biedl syndrome proteins. (PubMed id 18000879)1, 2 Oeffner F....Grzeschik K.H. (Cell Motil. Cytoskeleton 2008)
    8. 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. (Cell 2007)
    9. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. (PubMed id 16327777)1, 2 Badano J.L.... Katsanis N. (Nature 2006)
    10. Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians. (PubMed id 17003356)1, 4 Benzinou M....Froguel P. (Diabetes 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 583 HGNC: 967 AceView: BBS2 Ensembl:ENSG00000125124 euGenes: HUgn583
    ECgene: BBS2 H-InvDB: BBS2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/books/NBK1116/?term=BBS2[genesymbol]

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