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

BBS5 Gene

protein-coding   GIFtS: 52
GCID: GC02P170335

Bardet-Biedl syndrome 5

 Explore 11 diseases affiliated with
BBS5 via our new
 Human Malady Compendium 
Biological research products
for BBS5
    

(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 51 2
DKFZp762I1941
Bardet-Biedl Syndrome 5 Protein2

External Ids:    HGNC: 9701   Entrez Gene: 1298802   Ensembl: ENSG000001630937   OMIM: 6036505   UniProtKB: Q8N3I73   

Export aliases for BBS5 gene to outside databases

Previous GC identifers: GC02U990004 GC02P170539 GC02P170161 GC02P170044 GC02P162226


(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 BBS5:
This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this
syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities.
Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required
for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully
characterized. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: BBS5_HUMAN, Q8N3I7
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 BBS5


(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_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BBS5 gene promoter:
         TBP   FOXF2   STAT1beta   FOXD3   STAT1alpha   GATA-1   C/EBPalpha   FOXO4   Cart-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBBS5 promoter sequence
   Search SABiosciences Chromatin IP Primers for BBS5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BBS5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q31.1   Ensembl cytogenetic band:  2q31.1   HGNC cytogenetic band: 2q31

BBS5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BBS5 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P170335:  view genomic region     (about GC identifiers)

Start:
170,335,688 bp from pter      End:
170,382,432 bp from pter
Size:
46,745 bases      Orientation:
plus 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: BBS5_HUMAN, Q8N3I7 (See protein sequence)
Recommended Name: Bardet-Biedl syndrome 5 protein  
Size: 341 amino acids; 38755 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. Binds to phosphoinositides. Interacts with CCDC28B
Subcellular location: Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body (By
similarity). Note=Localizes to basal bodies (By similarity). Localizes to nonmembranous centriolar satellites
Miscellaneous: BBS5 may interact genetically with BBS1
Secondary accessions: D3DPC3 Q6PKN0
Alternative splicing: 2 isoforms:  Q8N3I7-1   Q8N3I7-2   

Explore the universe of human proteins at neXtProt for BBS5: NX_Q8N3I7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N3I7

  • BBS5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_689597.1  
    ENSEMBL proteins: 
     ENSP00000295240   ENSP00000376431   ENSP00000406182   ENSP00000452313  

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    Uscn Proteins for BBS5

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA--
    GO:0005737cytoplasm IEA--
    GO:0005932microtubule basal body ISS--
    GO:0034464BBSome IDA17574030
    GO:0060170cilium membrane IEA--


    BBS5 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

    BBS5 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR006606 BBL5

    Graphical View of Domain Structure for InterPro Entry Q8N3I7

    ProtoNet protein and cluster: Q8N3I7

    UniProtKB/Swiss-Prot: BBS5_HUMAN, Q8N3I7
    Similarity: Belongs to the BBS5 family


    (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: BBS5_HUMAN, Q8N3I7
    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

    miRNA
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0032266phosphatidylinositol-3-phosphate binding IDA17574030


    BBS5 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for BBS5:
     Increased gamma-H2AX phosphory 


    (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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BBS5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/9 Interacting proteins for BBS5 (Q8N3I71, 3 ENSP000002952404) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BBS9Q3SYG41, 3, ENSP000002420674EBI-2892592,EBI-2826852 I2D: score=1 STRING: ENSP00000242067
    BBS4Q96RK43, ENSP000002680574I2D: score=1 STRING: ENSP00000268057
    KLC1Q078663I2D: score=4 
    PANK1Q8TE043I2D: score=3 
    BBS1Q8NFJ93I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001947heart looping ISS--
    GO:0007601visual perception IEA--
    GO:0009296flagellum assembly ISS--
    GO:0032402melanosome transport ISS--
    GO:0042384cilium assembly IMP17574030


    BBS5 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 BBS5
    Search CenterWatch for drugs/clinical trials and news about BBS5 

    (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 BBS5 gene: 
    NM_152384.2  

    Unigene Cluster for BBS5:

    Bardet-Biedl syndrome 5
    Hs.233398  [show with all ESTs]
    Unigene Representative Sequence: NM_152384
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000295240(uc002uet.3) ENST00000469980 ENST00000392663(uc010fpw.3)
    ENST00000443151 ENST00000475571 ENST00000472667 ENST00000554017

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    hsa-miR-548a-3p hsa-miR-3607-3p hsa-miR-548d-3p hsa-miR-548am hsa-miR-548x hsa-miR-548e hsa-miR-590-3p hsa-miR-3907
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    Additional cDNA sequence: 

    AK097935.1 AK312680.1 AL834305.1 AY604003.1 AY604004.1 BC044593.1 

    5 DOTS entries:

    DT.408904  DT.91892732  DT.99992499  DT.97798490  DT.97838589 

    24/63 AceView cDNA sequences (see all 63):

    AA448124 AW589856 R59861 AA447982 BX098313 F27824 AW418788 AK097935 
    AW262627 AA724858 BI755030 BP375576 BM552915 AI491795 NM_152384 CA447003 
    AI539135 CA391386 AY604003 AA883999 CB069781 AI093191 BM677433 BC044593 

    GeneLoc Exon Structure


    (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

    BBS5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTCGGTTTAA

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

    About this image
    See BBS5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BBS5

    SOURCE GeneReport for Unigene cluster: Hs.233398
        SABiosciences Custom PCR Arrays for BBS5
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS5

    (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 BBS5 gene from 6/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves BBS51 Bardet-Biedl syndrome 5 82.75(n)
    90(a)
      424165  NM_001252031.1  NP_001238960.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    50(a)
    1 → many
    GL343362.1(399107-426909)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.247582 Xenopus laevis transcribed sequence with weak similarity more 81.88(n)    BX852628.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc565782 hypothetical protein MGC56578 80.19(n)   393269  BC049492.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG11261 CG1126 52.47(n)
    49.11(a)
      40600  NM_141242.2  NP_649499.1 
    worm
    (Caenorhabditis elegans)
    Secernentea bbs-51 Protein BBS-5 52.75(n)
    47.45(a)
      187516  NM_066871.1  NP_499272.1 


    ENSEMBL Gene Tree for BBS5 (if available)
    TreeFam Gene Tree for BBS5 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BBS5 gene
    ENSG000002515692  
    1 SIMAP similar gene for BBS5 using alignment to 3 protein entries:     BBS5_HUMAN (see all proteins):
    SARCOSIN

    BBS5 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for BBS5
    PGOHUM00000241011


    (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

    10/506 NCBI SNPs in BBS5 are shown (see all 506    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1378539211,2
    C,F,untested170350279(+) TACCAA/GTGTGA 2 N S mis12Minor allele frequency- G:0.00NA EU 5847
    rs1893584611,2
    --170334024(+) TCACAC/TTATTA 1 -- us2k10--------
    rs764050071,2
    C,F,--170334071(+) TCCAGA/CTCAGT 1 -- us2k11Minor allele frequency- C:0.04WA 118
    rs739716101,2
    C,--170334271(+) CATGTG/AAGCTG 1 -- us2k13Minor allele frequency- A:0.12WA CSA 121
    rs1123986361,2
    --170334328(+) GTTTCG/ACTCTT 1 -- us2k12Minor allele frequency- A:0.12CSA WA 119
    rs1485382761,2
    --170334366(+) GATCTC/TGGCTC 1 -- us2k10--------
    rs1425965531,2
    --170334368(+) TCTCGA/GCTCAC 1 -- us2k10--------
    rs1925274461,2
    --170334423(+) CTCCCA/GAGTAG 1 -- us2k10--------
    rs765457041,2
    C,--170334596(+) CCAGCC/TCAAGC 1 -- us2k13Minor allele frequency- T:0.14WA CSA 121
    rs1855809091,2
    --170334689(+) TCTCTC/GAGCCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for BBS5 (170335688 - 170382432 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for BBS5
         1 CNV: 9969
    Human Gene Mutation Database (HGMD): BBS5

    Locus Specific Mutation Databases (LSDB): BBS5

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BBS5
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    BBS5 for disorders           About GeneDecksing

    OMIM gene information: 603650   
    OMIM disorders: 209900  
    UniProtKB/Swiss-Prot: BBS5_HUMAN, Q8N3I7
  • Defects in BBS5 are a cause of Bardet-Biedl syndrome type 5 (BBS5) [MIM:209900]. Bardet-Biedl syndrome (BBS)
  • is a genetically heterogeneous 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

    11 diseases for BBS5:    About MalaCards
    bardet-biedl syndrome    bardet-biedl syndrome 5    polydactyly    learning disability
    obesity    retinitis    pigmentary retinopathy    fundus dystrophy
    meckel syndrome    retinal disease    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for BBS5:
    Polydactyly     Fundus dystrophy
    GeneTests: BBS5
    Bardet-Biedl Syndrome

    Human Genome Epidemiology (HuGE) Navigator: BBS5 (2 documents)

    Export disorders for BBS5 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 BBS5 gene, integrated from 9 sources (see all 24):
    (articles sorted by number of sources associating them with BBS5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. (PubMed id 16327777)1, 2 Badano J.L....Katsanis N. (2006)
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    4. Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. (PubMed id 15137946)1, 2 Li J.B....Dutcher S.K. (2004)
    5. 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)
    6. Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus. (PubMed id 9888993)1, 3 Woods M.O....Davidson W.S. (1999)
    7. A fifth locus for Bardet-Biedl syndrome maps to chrom osome 2q31. (PubMed id 10053027)1, 3 Young T.L....Davidson W.S. (1999)
    8. BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. (PubMed id 21344540)2 Deveault C....Heon E. (2011)
    9. Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip. (PubMed id 20801516)1 Booij J.C....Florijn R.J. (2010)
    10. 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 Chung W.K....Tiwari H.K. (2009)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 129880 HGNC: 970 AceView: BBS5 Ensembl:ENSG00000163093 euGenes: HUgn129880
    ECgene: BBS5 H-InvDB: BBS5

    (According to HUGE)
    About This Section
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    (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 BBS5 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BBS5

    (Patent information from GeneIP,
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    Patent Information for BBS5 gene:
    Search GeneIP for patents involving BBS5

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