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BBS9 Gene

protein-coding   GIFtS: 54
GCID: GC07P033168

Bardet-Biedl Syndrome 9

  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)
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Aliases
Bardet-Biedl Syndrome 91 2     B12
PTHB12 3 5     C182
Bardet-Biedl Syndrome 9 Protein2 3     D12
Parathyroid Hormone-Responsive B1 Gene Protein2 3     Protein PTHB12
Parathyroid Hormone Responsive B1 Gene1     PTH-Responsive Osteosarcoma B1 Protein2

External Ids:    HGNC: 300001   Entrez Gene: 272412   Ensembl: ENSG000001225077   OMIM: 6079685   UniProtKB: Q3SYG43   

Export aliases for BBS9 gene to outside databases

Previous GC identifers: GC07P033136 GC07P033048


(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 BBS9 Gene:
This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved
in parathyroid hormone action in bones. The exact function of this gene has not yet been determined.
Alternatively spliced transcript variants encoding different isoforms have been identified. (provided by RefSeq,
Jul 2008)

GeneCards Summary for BBS9 Gene:
BBS9 (Bardet-Biedl syndrome 9) is a protein-coding gene. Diseases associated with BBS9 include bbs9-related bardet-biedl syndrome, and bardet-biedl syndrome 9.

UniProtKB/Swiss-Prot: PTHB1_HUMAN, Q3SYG4
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. Required for proper BBSome complex assembly and
its ciliary localization

Gene Wiki entry for BBS9 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:
NC_000007.14  NT_007819.18  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BBS9 gene promoter:
         AML1a   FOXC1   c-Myb   CUTL1   GCNF-2   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BBS9 promoter sequence
   Search Chromatin IP Primers for BBS9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BBS9


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

Entrez Gene cytogenetic band: 7p14   Ensembl cytogenetic band:  7p14.3   HGNC cytogenetic band: 7p14

BBS9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BBS9 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P033168:  view genomic region     (about GC identifiers)

Start:
33,168,856 bp from pter      End:
33,645,680 bp from pter
Size:
476,825 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 33,213,680-33,690,276     

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PTHB1_HUMAN, Q3SYG4 (See protein sequence)
Recommended Name: Protein PTHB1  
Size: 887 amino acids; 99280 Da
Subunit: Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts
with LZTL1; the interaction mediates the association of LZTL1 with the BBsome complex and regulates BBSome
ciliary trafficking
Sequence caution: Sequence=AAD25980.1; Type=Miscellaneous discrepancy; Note=Chimera; Sequence=AAD25981.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: P78514 Q7KYS6 Q7KYS7 Q8N570 Q99844 Q99854 Q9Y699 Q9Y6A0
Alternative splicing: 6 isoforms:  Q3SYG4-1   Q3SYG4-2   Q3SYG4-3   Q3SYG4-4   Q3SYG4-5   Q3SYG4-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BBS9: NX_Q3SYG4

Explore proteomics data for BBS9 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See BBS9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001028776.1  NP_001028777.1  NP_055266.2  NP_940820.1  

    ENSEMBL proteins: 
     ENSP00000415794   ENSP00000242067   ENSP00000313122   ENSP00000379433   ENSP00000347182  
     ENSP00000412159   ENSP00000388646   ENSP00000388114   ENSP00000346214   ENSP00000405151  

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    Cloud-Clone Corp. Proteins for BBS9

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    Cloud-Clone Corp. CLIAs for BBS9


    (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:
     IPR026511 PTHB1
     IPR028073 PHTB1_N_dom
     IPR028074 PHTB1_C_dom

    Graphical View of Domain Structure for InterPro Entry Q3SYG4

    ProtoNet protein and cluster: Q3SYG4


    BBS9 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PTHB1_HUMAN, Q3SYG4
    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. Required for proper BBSome complex assembly and
    its ciliary localization
    Induction: Down-regulated by parathyroid hormone

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding IPI17574030
         
    BBS9 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BBS9:
     Increased S DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BBS9
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BBS9
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    miRNA
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    miRTarBase miRNAs that target BBS9:
    hsa-mir-335-5p (MIRT017564)

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    8 qRT-PCR Assays for microRNAs that regulate BBS9:
    hsa-miR-1290 hsa-miR-569 hsa-miR-200c* hsa-miR-944 hsa-miR-550a* hsa-miR-221* hsa-miR-143 hsa-miR-1264
    SwitchGear 3'UTR luciferase reporter plasmidBBS9 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BBS9

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    GenScript: all cDNA clones in your preferred vector (see all 4): BBS9 (NM_014451)
    Browse Sino Biological Human cDNA Clones
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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
    PTHB1_HUMAN, Q3SYG4: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium
    membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane5
    nucleus4
    cytosol3
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm IEA--
    GO:0005815microtubule organizing center IEA--
    GO:0005886plasma membrane ----
    GO:0034464BBSome IDA17574030

    BBS9 for ontologies           About GeneDecksing


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BBS9
    Interactions:

        Search GeneGlobe Interaction Network for BBS9

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for BBS9 (Q3SYG41, 3 ENSP000002420674) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BBS2Q9BXC91, 3, ENSP000002451574EBI-2826852,EBI-748297 I2D: score=1 STRING: ENSP00000245157
    BBS1Q8NFJ91, 3EBI-2826852,EBI-1805484 I2D: score=1 
    BBS5Q8N3I71, 3, ENSP000002952404EBI-2826852,EBI-2892592 I2D: score=1 STRING: ENSP00000295240
    TTC8Q8TAM21, 3, ENSP000003700314EBI-2826852,EBI-2892638 I2D: score=1 STRING: ENSP00000370031
    BBS4Q96RK43, ENSP000002680574I2D: score=1 STRING: ENSP00000268057
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007601visual perception IEA--
    GO:0015031protein transport IEA--
    GO:0030030cell projection organization IEA--
    GO:0045444fat cell differentiation ISS--
    GO:0050896response to stimulus IEA--

    BBS9 for ontologies           About GeneDecksing



    (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 BBS9 (PTHB1)

    2 Novoseek inferred chemical compound relationships for BBS9 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dopamine 12.2 3 1826762 (2), 11270582 (1)
    tyrosine 4.75 1 9164677 (1)



    BBS9 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for BBS9 gene (4 alternative transcripts): 
    NM_001033604.1  NM_001033605.1  NM_014451.3  NM_198428.2  

    Unigene Cluster for BBS9:

    Bardet-Biedl syndrome 9
    Hs.372360  [show with all ESTs]
    Unigene Representative Sequence: NM_198428
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000432983 ENST00000242067(uc003tdn.1 uc010kwn.1 uc003tds.1)
    ENST00000350941(uc003tdq.1) ENST00000396127(uc003tdo.1) ENST00000355070(uc003tdp.1)
    ENST00000465037 ENST00000433714(uc011kao.1) ENST00000482941 ENST00000442858
    ENST00000434373(uc003tdr.1) ENST00000496029 ENST00000495426 ENST00000489708
    ENST00000498189 ENST00000354265 ENST00000425508(uc011kan.1)
    miRNA
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    8 qRT-PCR Assays for microRNAs that regulate BBS9:
    hsa-miR-1290 hsa-miR-569 hsa-miR-200c* hsa-miR-944 hsa-miR-550a* hsa-miR-221* hsa-miR-143 hsa-miR-1264
    SwitchGear 3'UTR luciferase reporter plasmidBBS9 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat BBS9
      QuantiFast Probe-based Assays in human, mouse, rat BBS9

    Additional mRNA sequence: 

    AF095769.1 AF095771.1 AK057660.1 AK091361.1 AK297436.1 AK314627.1 BC032715.1 BC103831.2 
    BX647385.1 U85994.1 U85995.1 U87408.1 

    14 DOTS entries:

    DT.86847330  DT.452811  DT.86847328  DT.100817594  DT.40116860  DT.100728394  DT.100660674  DT.100817597 
    DT.121042747  DT.95208083  DT.121042730  DT.121042741  DT.91989058  DT.70104182 

    Selected AceView cDNA sequences (see all 26):

    BM541803 BX494907 AL712323 CB216100 AL704922 BX510041 BX504089 CB267053 
    BG716896 BM926128 BM473370 BC032715 BX471621 AA218585 BX470520 BG724201 
    NM_198428 NM_014451 BE314581 BX647385 AF095771 AK057660 BX394950 BG820988 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for BBS9    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b · 16c ^ 17 ^ 18
    SP1:                                                                                      -     -     -     -     -           -                           
    SP2:                                                                                                                          -           -               
    SP3:              -                                                                                                                                       
    SP4:              -     -                                                                                                                                 
    SP5:                                                                                                                                      -               


    ECgene alternative splicing isoforms for BBS9

    (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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    BBS9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    BBS9 Expression
    About this image


    BBS9 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Gut Tube (Gastrointestinal Tract)
             Midgut
    BBS9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BBS9 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.372360

    UniProtKB/Swiss-Prot: PTHB1_HUMAN, Q3SYG4
    Tissue specificity: Widely expressed. Expressed in adult heart, skeletal muscle, lung, liver, kidney, placenta and
    brain, and in fetal kidney, lung, liver and brain

        Custom PCR Arrays for BBS9
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS9

    (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 BBS9 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bbs91 , 5 Bardet-Biedl syndrome 9 (human)1, 5 84.2(n)1
    87.84(a)1
      9 (9.17 cM)5
    3198451  NM_178415.11  NP_848502.11 
     224757155 
    chicken
    (Gallus gallus)
    Aves BBS91 Bardet-Biedl syndrome 9 74.55(n)
    74.29(a)
      420745  XM_418843.4  XP_418843.4 
    lizard
    (Anolis carolinensis)
    Reptilia BBS96
    Bardet-Biedl syndrome 9
    71(a)
    1 ↔ 1
    6(45417136-45674907)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL890590.22   -- 77.9(n)    AL890590.2 
    zebrafish
    (Danio rerio)
    Actinopterygii bbs91 Bardet-Biedl syndrome 9 63.15(n)
    63.11(a)
      100333716  XM_002664792.2  XP_002664838.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG156661 CG15666 43.55(n)
    31.66(a)
      37439  NM_001144255.2  NP_001137727.2 
    worm
    (Caenorhabditis elegans)
    Secernentea bbs-91 bbs-9 42.59(n)
    26.67(a)
      183572  NM_059572.4  NP_491973.4 


    ENSEMBL Gene Tree for BBS9 (if available)
    TreeFam Gene Tree for BBS9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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 BBS9 (see all 9543)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0263894
    Bardet-Biedl syndrome 9 (BBS9)4--see VAR_0263892 G R mis40--------
    rs353147971,2
    C--33082570(-) ATAGAC/ACAATA 4 -- int12Minor allele frequency- A:0.25NA 4
    rs340088121,2
    C--33091070(+) GCAGG-/GAAAGC 4 -- int10--------
    rs709899381,2
    C--33099403(+) TTGCC-/TTGCTG 4 -- int11Minor allele frequency- T:0.00NA 2
    rs357464581,2
    C--33103497(+) ACCAAAA/-GAGAT 4 -- int11Minor allele frequency- -:0.00NA 2
    rs2022141211,2
    --33114801(+) ACACT-/TTTA  
            
    TTTCT
    4 -- int10--------
    rs58833881,2
    C--33114802(+) CACTTTTATC/
            
    TTCTC
    4 -- int1 trp31Minor allele frequency- -:0.00CSA 2
    rs1461637811,2
    --33139800(+) AGACAA/GTCTTG 4 -- us2k10--------
    rs1394567971,2
    --33139888(+) CATGCC/GTCAGC 4 -- us2k10--------
    rs102369271,2
    C--33140022(+) ctcccG/Accttg 4 -- us2k12Minor allele frequency- A:0.25NA 4

    HapMap Linkage Disequilibrium report for BBS9 (33168856 - 33418856 bp, first 250kb of BBS9)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for BBS9 (see all 38):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2734231CNV Deletion23290073
    esv2657892CNV Deletion23128226
    esv1937243CNV Deletion18987734
    dgv1127e201CNV Deletion23290073
    esv5341CNV Deletion18987735
    esv2633060CNV Deletion19546169
    esv2734230CNV Deletion23290073
    esv2672273CNV Deletion23128226
    esv2674206CNV Deletion23128226
    esv2734232CNV Deletion23290073

    Human Gene Mutation Database (HGMD): BBS9
    Locus Specific Mutation Databases (LSDB): BBS9

    Site Specific Mutation Identification with PCR Assays
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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.)
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    OMIM gene information: 607968   
    OMIM disorders: 209900  
    UniProtKB/Swiss-Prot: PTHB1_HUMAN, Q3SYG4
  • Note=A chromosomal aberration involving PTHB1 has been found in Wilms tumor. Translocation
    t(1;7)(q42;p15) with OBSCN
  • Bardet-Biedl syndrome 9 (BBS9) [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 BBS9 (see all 22):    
    About MalaCards
    bbs9-related bardet-biedl syndrome    bardet-biedl syndrome 9    osteosarcoma    bardet-biedl syndrome
    bardet-biedl syndrome, modifier of    pigmentary retinopathy    craniosynostosis    premature ovarian failure
    polydactyly    retinal disease    wilms tumor    age related macular degeneration
    retinitis    kidney disease    mental retardation    obesity
    hypertension    multiple myeloma    myeloma    breast cancer

    1 disease from the University of Copenhagen DISEASES database for BBS9:
    Bardet-Biedl syndrome

    BBS9 for disorders           About GeneDecksing

    GeneTests: BBS9
    GeneReviews: BBS9
    Genetic Association Database (GAD): BBS9
    Human Genome Epidemiology (HuGE) Navigator: BBS9 (4 documents)

    Export disorders for BBS9 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 BBS9 gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with BBS9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. (PubMed id 16380913)1, 2, 3, 9 Nishimura D.Y....Sheffield V.C. (Am. J. Hum. Genet. 2005)
    2. Identification of a novel parathyroid hormone-responsive gene in human osteoblastic cells. (PubMed id 10221542)1, 2, 3 Adams A.E.... Suva L.J. (Bone 1999)
    3. The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour. (PubMed id 12618763)1, 2, 9 Vernon E.G.... Brown K.W. (Oncogene 2003)
    4. Parathyroid hormone-responsive B1 gene is associated with premature ovarian failure. (PubMed id 18349106)1, 4, 9 Kang H....Kwack K. (Hum. Reprod. 2008)
    5. 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)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. 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)
    8. 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. (Genome Res. 2004)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response. (PubMed id 21993531)4 Kuparinen T....Hurme M. (Genes Immun. 2012)

    (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: 27241 HGNC: 30000 AceView: B1 Ensembl:ENSG00000122507 euGenes: HUgn27241
    ECgene: BBS9 H-InvDB: BBS9

    (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 BBS9 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=BBS9[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 BBS9 gene:
    Search GeneIP for patents involving BBS9

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



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