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BBS7 Gene

protein-coding   GIFtS: 54
GCID: GC04M122745

Bardet-Biedl Syndrome 7

  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 71 2
BBS2L12 3
BBS2-Like Protein 12 3
Bardet-Biedl Syndrome 7 Protein2
BBS2-Like 12

External Ids:    HGNC: 187581   Entrez Gene: 552122   Ensembl: ENSG000001386867   OMIM: 6075905   UniProtKB: Q8IWZ63   

Export aliases for BBS7 gene to outside databases

Previous GC identifers: GC04M123028 GC04M123138 GC04M123204 GC04M123103 GC04M122965 GC04M118472


(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 BBS7 Gene:
This gene encodes one of seven proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8
and BBS9. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The
BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and
BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic
disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in
this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found
to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two
transcript variants encoding distinct isoforms have been identified for this gene.(provided by RefSeq, Feb 2011)

GeneCards Summary for BBS7 Gene:
BBS7 (Bardet-Biedl syndrome 7) is a protein-coding gene. Diseases associated with BBS7 include bbs7-related bardet-biedl syndrome, and bardet-biedl syndrome 7.

UniProtKB/Swiss-Prot: BBS7_HUMAN, Q8IWZ6
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 BBS7 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_000004.12  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BBS7 gene promoter:
         TBP   Nkx3-1 v4   Cdc5   GATA-1   SRY   COMP1   TFIID   FOXJ2 (long isoform)   Nkx3-1 v3   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBBS7 promoter sequence
   Search Chromatin IP Primers for BBS7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BBS7


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

Entrez Gene cytogenetic band: 4q27   Ensembl cytogenetic band:  4q27   HGNC cytogenetic band: 4q27

BBS7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BBS7 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M122745:  view genomic region     (about GC identifiers)

Start:
122,745,484 bp from pter      End:
122,791,652 bp from pter
Size:
46,169 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, 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: BBS7_HUMAN, Q8IWZ6 (See protein sequence)
Recommended Name: Bardet-Biedl syndrome 7 protein  
Size: 715 amino acids; 80353 Da
Subunit: Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts
with BBS2 (via C-terminus). Interacts with CCDC28B and ALDOB. Interacts with SMO; the interaction is indicative
for the association of SMO with the BBsome complex to facilitate ciliary localization of SMO
Secondary accessions: Q4W5P8 Q8N581 Q9NVI4
Alternative splicing: 2 isoforms:  Q8IWZ6-1   Q8IWZ6-2   

Explore the universe of human proteins at neXtProt for BBS7: NX_Q8IWZ6

Explore proteomics data for BBS7 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys355
  • Modification sites at PhosphoSitePlus

  • See BBS7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_060660.2  NP_789794.1  

    ENSEMBL proteins: 
     ENSP00000264499   ENSP00000423250   ENSP00000423626  

    BBS7 Human Recombinant Protein Products:

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    Novus Biologicals BBS7 Proteins
    Novus Biologicals BBS7 Lysates
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for BBS7

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    ThermoFisher Antibodies for BBS7
    LSBio Antibodies in human, mouse, rat for BBS7

    BBS7 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for BBS7
    Cloud-Clone Corp. CLIAs for BBS7


    (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:
     IPR016575 Bardet-Biedl_syndrome_7_prot
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q8IWZ6

    ProtoNet protein and cluster: Q8IWZ6


    BBS7 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: BBS7_HUMAN, Q8IWZ6
    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
         
    BBS7 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BBS7:
     Increased gamma-H2AX phosphory 

         9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Bbs7):
     cardiovascular system  craniofacial  digestive/alimentary  embryogenesis  homeostasis/metabolism 
     limbs/digits/tail  mortality/aging  nervous system  vision/eye 

    BBS7 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Bbs7tm1Vcs for BBS7

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BBS7
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BBS7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BBS7
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BBS7

    miRNA
    Products:
        
    miRTarBase miRNAs that target BBS7:
    hsa-mir-215-5p (MIRT024648), hsa-mir-192-5p (MIRT026140), hsa-let-7b-5p (MIRT051927)

    Block miRNA regulation of human, mouse, rat BBS7 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BBS7 (see all 9):
    hsa-miR-34c-3p hsa-miR-154 hsa-miR-4328 hsa-miR-3611 hsa-miR-7-2* hsa-miR-3122 hsa-miR-3913-5p hsa-miR-7-1*
    SwitchGear 3'UTR luciferase reporter plasmidBBS7 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for BBS7
    Predesigned siRNA for gene silencing in human, mouse, rat BBS7

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for BBS7

    Clone
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    OriGene clones in human, mouse for BBS7 (see all 12)
    OriGene ORF clones in mouse, rat for BBS7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): BBS7 (NM_176824)
    Sino Biological Human cDNA Clone for BBS7
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BBS7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BBS7

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for BBS7
    Browse ESI BIO Cell Lines and PureStem Progenitors for BBS7 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS7


    (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
    BBS7_HUMAN, Q8IWZ6: Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing
    center, centrosome, centriolar satellite
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane5
    cytosol2
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005813centrosome IDA--
    GO:0034464BBSome IDA17574030
    GO:0060170ciliary membrane IEA--

    BBS7 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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        Pathway & Disease-focused RT2 Profiler PCR Array including BBS7: 
              Primary Cilia in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for BBS7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for BBS7 (Q8IWZ61, 3 ENSP000002644994) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BBS2Q9BXC91, 3, ENSP000002451574EBI-1806001,EBI-748297 I2D: score=2 STRING: ENSP00000245157
    ALDOBP050621, 3, ENSP000003639884EBI-1806001,EBI-1045507 I2D: score=1 STRING: ENSP00000363988
    BBS1Q8NFJ91, 3EBI-1806001,EBI-1805484 I2D: score=1 
    JUNP054121, 3EBI-1806001,EBI-852823 I2D: score=1 
    ENSG00000206379O759553, ENSP000003728734I2D: score=1 STRING: ENSP00000372873
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    Gene Ontology (GO): Selected biological process terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001654eye development IEA--
    GO:0001947heart looping ISS--
    GO:0006357regulation of transcription from RNA polymerase II promoter IPI--
    GO:0007224smoothened signaling pathway IEA--
    GO:0007368determination of left/right symmetry ISS--

    BBS7 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 BBS7



    (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,
    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 BBS7 gene (2 alternative transcripts): 
    NM_018190.3  NM_176824.2  

    Unigene Cluster for BBS7:

    Bardet-Biedl syndrome 7
    Hs.591694  [show with all ESTs]
    Unigene Representative Sequence: NM_176824
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264499(uc003ied.3) ENST00000507814 ENST00000506636(uc003iee.2)
    ENST00000508536 ENST00000505692 ENST00000502444(uc010inq.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat BBS7 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BBS7 (see all 9):
    hsa-miR-34c-3p hsa-miR-154 hsa-miR-4328 hsa-miR-3611 hsa-miR-7-2* hsa-miR-3122 hsa-miR-3913-5p hsa-miR-7-1*
    SwitchGear 3'UTR luciferase reporter plasmidBBS7 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for BBS7
    Predesigned siRNA for gene silencing in human, mouse, rat BBS7
    Clone
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    OriGene clones in human, mouse for BBS7 (see all 12)
    OriGene ORF clones in mouse, rat for BBS7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): BBS7 (NM_176824)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BBS7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BBS7
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for BBS7
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BBS7
      QuantiTect SYBR Green Assays in human, mouse, rat BBS7
      QuantiFast Probe-based Assays in human, mouse, rat BBS7

    Additional mRNA sequence: 

    AF521643.1 AF521644.1 AK001577.1 AK308076.1 AK309803.1 BC032691.1 

    11 DOTS entries:

    DT.407371  DT.110185  DT.97804822  DT.121256999  DT.121256974  DT.95083764  DT.100779248  DT.100779251 
    DT.121256987  DT.99996212  DT.95286627 

    Selected AceView cDNA sequences (see all 31):

    BU160062 BQ226004 AL705447 AL712966 AI216454 BQ940332 BX505106 BX479600 
    BG717837 BX491325 AL712963 BG720363 BG717780 BU564492 BG720664 BE465114 
    BI596633 BI912874 BX510161 AL710947 BG723685 AW291392 BF701436 AI274295 

    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™, 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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    BBS7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    BBS7 Expression
    About this image

    BBS7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BBS7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591694

    UniProtKB/Swiss-Prot: BBS7_HUMAN, Q8IWZ6
    Tissue specificity: Isoform 2 is ubiquitously expressed. Isoform 1 is expressed in retina, lung, liver, testis,
    ovary, prostate, small intestine, liver, brain, heart and pancreas

        Pathway & Disease-focused RT2 Profiler PCR Array including BBS7: 
              Primary Cilia in human mouse rat

    Primer
    Products:
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BBS7
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS7

    (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 BBS7 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bbs71 , 5 Bardet-Biedl syndrome 7 (human)1, 5 87.55(n)1
    91.75(a)1
      3 (17.72 cM)5
    714921  NM_027810.31  NP_082086.21 
     365731425 
    chicken
    (Gallus gallus)
    Aves BBS71 Bardet-Biedl syndrome 7 76.74(n)
    80.14(a)
      771481  XM_003641194.2  XP_003641242.1 
    lizard
    (Anolis carolinensis)
    Reptilia BBS76
    Bardet-Biedl syndrome 7
    81(a)
    1 ↔ 1
    5(139012861-139035938)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.30892 Xenopus laevis transcribed sequences 77.9(n)    BQ400480.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.143452 Transcribed sequence with weak similarity to protein more 79.68(n)    BM104284.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0118991 AgaP_AGAP011899 49.88(n)
    47.67(a)
      1280761  XM_320627.3  XP_320627.3 
    worm
    (Caenorhabditis elegans)
    Secernentea osm-121 osm-12 45.93(n)
    34.71(a)
      190704  NM_067184.1  NP_499585.1 


    ENSEMBL Gene Tree for BBS7 (if available)
    TreeFam Gene Tree for BBS7 (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 BBS7 (see all 840)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0662864
    Bardet-Biedl syndrome 7 (BBS7)4--see VAR_0662862 G R mis40--------
    VAR_0172124
    Bardet-Biedl syndrome 7 (BBS7)4--see VAR_0172122 T I mis40--------
    VAR_0172134
    Bardet-Biedl syndrome 7 (BBS7)4--see VAR_0172132 H R mis40--------
    VAR_0388934
    Bardet-Biedl syndrome 7 (BBS7)4--see VAR_0388932 I F mis40--------
    rs1194660011,2
    Cpathogenic1122554053(-) CATTCA/GTAAGG 4 H R mis11Minor allele frequency- G:0.00NA 4548
    rs32177571,2
    C,F--118472074(-) CGTCCC/-AGAGC 1 -- ds50012Minor allele frequency- -:0.41NS CSA 166
    rs3758655291,2
    C--118479848(+) CAAAA-/AC/A  
     CACACAC
    ACACA
    2 -- int10--------
    rs355041601,2
    C--118479873(+) ACACA-/AC/ACA
    CACAC
    /CA
    CACAC
    2 -- int11NA 2
    rs1484157721,2
    C--118484807(+) TTTTT-/TGAGAT 2 -- int10--------
    rs1413415711,2
    C--118497425(+) AGCAC-/TTTGGG 2 -- int10--------

    HapMap Linkage Disequilibrium report for BBS7 (122745484 - 122791652 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for BBS7:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv507195CNV Insertion20534489

    Human Gene Mutation Database (HGMD): BBS7
    Locus Specific Mutation Databases (LSDB): BBS7

    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607590   
    OMIM disorders: 209900  
    UniProtKB/Swiss-Prot: BBS7_HUMAN, Q8IWZ6
  • Note=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies.
    Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities,
    fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral
    nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert
    syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others.
    Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders,
    leading to the suggestion that variations across multiple sites of the ciliary proteome, including BBS7,
    influence the clinical outcome
  • Bardet-Biedl syndrome 7 (BBS7) [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 BBS7 (see all 24):    About MalaCards
    bbs7-related bardet-biedl syndrome    bardet-biedl syndrome 7    mckusick-kaufman syndrome    acrocallosal syndrome
    bardet-biedl syndrome    retinal degeneration    asphyxiating thoracic dystrophy    polydactyly
    senior-loken syndrome    bardet-biedl syndrome, modifier of    meckel syndrome    tetralogy of fallot
    pigmentary retinopathy    joubert syndrome    retinal disease    obesity
    retinitis    mental retardation    diabetes mellitus    hypertension

    2 diseases from the University of Copenhagen DISEASES database for BBS7:
    Bardet-Biedl syndrome     Polydactyly

    BBS7 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for BBS7 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bardet-biedl syndrome 92.9 3 19093007 (2), 12567324 (1)

    GeneTests: BBS7
    GeneReviews: BBS7
    Genetic Association Database (GAD): BBS7
    Human Genome Epidemiology (HuGE) Navigator: BBS7 (3 documents)

    Export disorders for BBS7 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 BBS7 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with BBS7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. (PubMed id 12567324)1, 2, 9 Badano J.L....Katsanis N. (Am. J. Hum. Genet. 2003)
    2. 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)
    3. BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. (PubMed id 20080638)1, 2 Seo S....Sheffield V.C. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    4. BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. (PubMed id 19402160)1, 4 Bin J....HAcon E. (Hum. Mutat. 2009)
    5. 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)
    6. Novel interaction partners of Bardet-Biedl syndrome proteins. (PubMed id 18000879)1, 2 Oeffner F....Grzeschik K.H. (Cell Motil. Cytoskeleton 2008)
    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. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. (PubMed id 16327777)1, 2 Badano J.L.... Katsanis N. (Nature 2006)
    9. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    10. 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)

    (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: 55212 HGNC: 18758 AceView: BBS7.1 Ensembl:ENSG00000138686 euGenes: HUgn55212
    ECgene: BBS7 H-InvDB: BBS7

    (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 BBS7 Pharmacogenomics, SNPs, Pathways
    Mutations of the BBS7 genehttp://www.retina-international.org/files/sci-news/bbs7mut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=BBS7[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 BBS7 gene:
    Search GeneIP for patents involving BBS7

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



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