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

BBS5 Gene

protein-coding   GIFtS: 54
GCID: GC02P170335

Bardet-Biedl Syndrome 5

  See 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)
About This Section

Aliases
Bardet-Biedl Syndrome 51 2
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 Gene:
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)

GeneCards Summary for BBS5 Gene: 
BBS5 (Bardet-Biedl syndrome 5) is a protein-coding gene. Diseases associated with BBS5 include bbs5-related bardet-biedl syndrome, and bardet-biedl syndrome 5. GO annotations related to this gene include protein binding and phosphatidylinositol-3-phosphate binding. An important paralog of this gene is ENSG00000251569.

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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for BBS5 at MOPED 

Post-translational modifications:

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

  • BBS5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BBS5 Protein Expression
    REFSEQ proteins: NP_689597.1  
    ENSEMBL proteins: 
     ENSP00000295240   ENSP00000376431   ENSP00000406182   ENSP00000452313  

    Human Recombinant Protein Products for BBS5: 
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    Cloud-Clone Corp. 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 HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     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


    BBS5 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16327777
    GO:0032266phosphatidylinositol-3-phosphate binding IDA17574030
         
    BBS5 for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for BBS5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for BBS5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BBS5 
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    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BBS5
    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate BBS5 (see all 9):
    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
    SwitchGear 3'UTR luciferase reporter plasmidBBS5 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for BBS5
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS5


    (Pathways according to EMD Millipore, 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 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 Oct 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:0032402melanosome transport ISS--
    GO:0042384cilium assembly IMP17574030
    GO:0044458motile cilium assembly ISS--

    BBS5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 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,
    Conferences by KenesGroup, 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, Sirion Biotech, 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
    miRNA
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    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate BBS5 (see all 9):
    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
    SwitchGear 3'UTR luciferase reporter plasmidBBS5 3' UTR sequence
    Inhib. RNA
    Products:
         
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BBS5
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BBS5

    Additional mRNA 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 BX098313 R59861 AA447982 AW589856 F27824 AW196355 AI539135 
    AW262627 AI093191 AY604004 BM677433 AA883999 NM_152384 CA391386 BC044593 
    AW418788 CB069781 AL834305 AI651117 AY604003 BI755030 AI480311 BP375576 

    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)      BBS5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCGGTTTAA
    BBS5 Expression
    About this image


    BBS5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Retina
             retina   
     
     Epithelium (Respiratory System)    fully expand to see all 2 entries
             bronchial epithelial cells   
     
     Ovary (Reproductive System)
             oocyte   
     
     Testis (Reproductive System)

    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 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bbs51 , 5 Bardet-Biedl syndrome 5 (human)1, 5 88.66(n)1
    96.48(a)1
      2 (40.91 cM)5
    725691  NM_028284.21  NP_082560.11 
     696471715 
    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 --
    Uncharacterized protein
    49(a)
    1 → many
    GL343362.1(399089-428802)
    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  
    3 SIMAP similar genes for BBS5 using alignment to 3 protein entries:     BBS5_HUMAN (see all proteins):
    KLHL41    SARCOSIN    KLHL40

    BBS5 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for BBS5
    PGOHUM00000241011


    (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) 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

    10/622 SNPs in BBS5 are shown (see all 622)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0662904
    Bardet-Biedl syndrome 5 (BBS5)4--see VAR_0662902 G S mis40--------
    rs1378539211,2
    C,Funtested1170350279(+) TACCAA/GTGTGA 2 N S mis12Minor allele frequency- G:0.00NA EU 5847
    VAR_0253164
    ----see VAR_0253162 N S mis40--------
    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,F--170334271(+) CATGTG/AAGCTG 1 -- us2k13Minor allele frequency- A:0.12WA CSA 121
    rs1123986361,2
    C,F--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--------

    HapMap Linkage Disequilibrium report for BBS5 (170335688 - 170382432 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/14 variations for BBS5 (see all 14):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1600177CNV Deletion17803354
    nsv818095CNV Loss17921354
    nsv875389CNV Loss21882294
    nsv875406CNV Loss21882294
    dgv4361n71CNV Loss21882294
    dgv4358n71CNV Loss21882294
    dgv4360n71CNV Loss21882294
    nsv875401CNV Loss21882294
    nsv875385CNV Loss21882294
    dgv4357n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): BBS5

    Locus Specific Mutation Databases (LSDB): BBS5
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603650   
    OMIM disorders: 209900  
    UniProtKB/Swiss-Prot: BBS5_HUMAN, Q8N3I7
  • Bardet-Biedl syndrome 5 (BBS5) [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

  • 14 diseases for BBS5:    About MalaCards
    bbs5-related bardet-biedl syndrome    bardet-biedl syndrome 5    learning disability    bardet-biedl syndrome
    meckel syndrome    polydactyly    pigmentary retinopathy    fundus dystrophy
    retinal disease    obesity    retinitis    mental retardation
    diabetes mellitus    hypertension

    3 diseases from the University of Copenhagen DISEASES database for BBS5:
    Bardet-Biedl syndrome     Polydactyly     Fundus dystrophy

    BBS5 for disorders           About GeneDecksing

    GeneTests: BBS5
    GeneReviews: BBS5
    Genetic Association Database (GAD): BBS5
    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. 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. (2010)
    2. 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. (2009)
    3. 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)
    4. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. (PubMed id 16327777)1, 2 Badano J.L....Katsanis N. (2006)
    5. 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)
    6. 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)
    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. 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)
    9. A fifth locus for Bardet-Biedl syndrome maps to chrom osome 2q31. (PubMed id 10053027)1, 3 Young T.L....Davidson W.S. (1999)
    10. 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)

    (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: 129880 HGNC: 970 AceView: BBS5 Ensembl:ENSG00000163093 euGenes: HUgn129880
    ECgene: BBS5 H-InvDB: BBS5

    (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 BBS5 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BBS5

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BBS5 gene:
    Search GeneIP for patents involving BBS5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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