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BBS10 Gene

protein-coding   GIFtS: 56
GCID: GC12M076738

Bardet-Biedl Syndrome 10

(Previous name: chromosome 12 open reading frame 58)
(Previous symbol: C12orf58)
  See BBS10-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 101 2
C12orf581 2 3 5
Chromosome 12 Open Reading Frame 581
Bardet-Biedl Syndrome 10 Protein2
FLJ235605

External Ids:    HGNC: 262911   Entrez Gene: 797382   Ensembl: ENSG000001799417   OMIM: 6101485   UniProtKB: Q8TAM13   

Export aliases for BBS10 gene to outside databases

Previous GC identifers: GC12M075262 GC12M073790


(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 BBS10 Gene:
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal
recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation
and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar
phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia
formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar
regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related
transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence
homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of
other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in
preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. (provided by RefSeq, Jan 2010)

GeneCards Summary for BBS10 Gene:
BBS10 (Bardet-Biedl syndrome 10) is a protein-coding gene. Diseases associated with BBS10 include bardet-biedl syndrome 10, and bbs10-related bardet-biedl syndrome.

UniProtKB/Swiss-Prot: BBS10_HUMAN, Q8TAM1
Function: Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the
BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating
transports vesicles to the cilia. Involved in adipogenic differentiation

Gene Wiki entry for BBS10 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BBS10 gene promoter:
         Nkx2-2   GCNF   Nkx2-5   AP-2gamma   C/EBPalpha   MEF-2A   POU2F1a   GCNF-1   aMEF-2   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBBS10 promoter sequence
   Search Chromatin IP Primers for BBS10

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BBS10


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

Entrez Gene cytogenetic band: 12q21.2   Ensembl cytogenetic band:  12q21.2   HGNC cytogenetic band: 12q21.2

BBS10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BBS10 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M076738:  view genomic region     (about GC identifiers)

Start:
76,738,254 bp from pter      End:
76,742,222 bp from pter
Size:
3,969 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: BBS10_HUMAN, Q8TAM1 (See protein sequence)
Recommended Name: Bardet-Biedl syndrome 10 protein  
Size: 723 amino acids; 80838 Da
Subunit: Component of the BBS/CCT complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3, CCT4, CCT5
AND CCT8
Miscellaneous: Adipocytes derived from BBS-patients' dermal fibroblasts in culture exhibit higher propensity for
fat accumulation when compared to controls. This strongly suggests that a peripheral primary dysfunction of
adipogenesis participates to the pathogenesis of obesity in BBS
Sequence caution: Sequence=AAH13795.1; Type=Erroneous initiation; Sequence=BAB15695.1; Type=Erroneous initiation;
Secondary accessions: Q96CW2 Q9H5D2

Explore the universe of human proteins at neXtProt for BBS10: NX_Q8TAM1

Explore proteomics data for BBS10 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys40, Lys542
  • Modification sites at PhosphoSitePlus

  • See BBS10 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_078961.3  
    ENSEMBL proteins: 
     ENSP00000376946  

    BBS10 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for BBS10

     
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    BBS10 Assay Products:

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    Search eBioscience for ELISAs for BBS10 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CHAP: Heat Shock Proteins / Chaperonins

    2 InterPro protein domains:
     IPR002423 Cpn60/TCP-1
     IPR027413 GROEL-like_equatorial

    Graphical View of Domain Structure for InterPro Entry Q8TAM1

    ProtoNet protein and cluster: Q8TAM1

    UniProtKB/Swiss-Prot: BBS10_HUMAN, Q8TAM1
    Similarity: Belongs to the TCP-1 chaperonin family


    Find genes that share domains with BBS10           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: BBS10_HUMAN, Q8TAM1
    Function: Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the
    BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating
    transports vesicles to the cilia. Involved in adipogenic differentiation

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001103RNA polymerase II repressing transcription factor binding IPI--
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with BBS10           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Bbs10 (no phenotypes)

    Find genes that share phenotypes with BBS10           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Bbs10tm1(KOMP)Vlcg for BBS10

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BBS10
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BBS10

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BBS10
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BBS10

    miRNA
    Products:
        
    miRTarBase miRNAs that target BBS10:
    hsa-mir-186-5p (MIRT021120), hsa-mir-340-5p (MIRT019602)

    Block miRNA regulation of human, mouse, rat BBS10 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate BBS10:
    hsa-miR-501-5p hsa-miR-3919 hsa-miR-548n
    SwitchGear 3'UTR luciferase reporter plasmidBBS10 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for BBS10
    Predesigned siRNA for gene silencing in human, mouse, rat BBS10

    Gene Editing
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: BBS10 (NM_024685)
    Sino Biological Human cDNA Clone for BBS10
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BBS10
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BBS10

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS10


    (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
    BBS10_HUMAN, Q8TAM1: Cell projection, cilium. Note=Located within the basal body of the primary cilium of
    differentiating preadipocytes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol1
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005929cilium IEA--

    Find genes that share ontologies with BBS10           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BBS10
    Interactions:

        Search GeneGlobe Interaction Network for BBS10

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

    Selected Interacting proteins for BBS10 (Q8TAM11, 2, 3 ENSP000003769464) via UniProtKB, MINT, STRING, and/or I2D (see all 126)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K7O433182, 3, ENSP000003583354MINT-8259888 I2D: score=2 STRING: ENSP00000358335
    RASA1P209362, 3, ENSP000002743764MINT-8268196 I2D: score=2 STRING: ENSP00000274376
    YAE1D1Q9NRH12, 3, ENSP000002232734MINT-8250123 I2D: score=2 STRING: ENSP00000223273
    CSNK1EP496742, 3MINT-8252692 I2D: score=2 
    FRZBQ927652, 3MINT-8255448 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001895retina homeostasis IMP17980398
    GO:0007601visual perception IEA--
    GO:0035058nonmotile primary cilium assembly IMP17980398
    GO:0043254regulation of protein complex assembly IMP--
    GO:0044267cellular protein metabolic process IEA--

    Find genes that share ontologies with BBS10           About GenesLikeMe



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

    Browse Tocris compounds for BBS10



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BBS10 gene: 
    NM_024685.3  

    Unigene Cluster for BBS10:

    Bardet-Biedl syndrome 10
    Hs.96322  [show with all ESTs]
    Unigene Representative Sequence: NM_024685
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000393262(uc001syd.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat BBS10 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate BBS10:
    hsa-miR-501-5p hsa-miR-3919 hsa-miR-548n
    SwitchGear 3'UTR luciferase reporter plasmidBBS10 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for BBS10
    Predesigned siRNA for gene silencing in human, mouse, rat BBS10
    Clone
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    OriGene clones in human, mouse for BBS10 (see all 8)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: BBS10 (NM_024685)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BBS10
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BBS10
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for BBS10
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BBS10
      QuantiTect SYBR Green Assays in human, mouse, rat BBS10
      QuantiFast Probe-based Assays in human, mouse, rat BBS10

    Additional mRNA sequence: 

    AK027213.1 AK225585.1 AK304178.1 BC026355.1 

    3 DOTS entries:

    DT.409971  DT.91906473  DT.95120172 

    Selected AceView cDNA sequences (see all 58):

    BM543326 BI756814 AI559305 AW963976 BM904438 AI673014 N51560 AI357206 
    BC013795 BM453668 BE891236 AA376889 AW001748 AI982730 BI462570 BU178958 
    CK000385 BM714502 BC026355 BG701297 CA430896 AW271255 CB267432 BX641894 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for BBS10    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b
    SP1:                              
    SP2:                              


    ECgene alternative splicing isoforms for BBS10

    (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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    BBS10 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATTTACTGG
    BBS10 Expression
    About this image


    BBS10 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
    BBS10 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BBS10 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.96322
        Custom PCR Arrays for BBS10
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS10

    (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 chordates.

    Orthologs for BBS10 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bbs101 , 5 Bardet-Biedl syndrome 10 (human)1, 5 78.29(n)1
    68.07(a)1
      10 (58.46 cM)5
    717691  NM_027914.11  NP_082190.11 
     1112986795 
    chicken
    (Gallus gallus)
    Aves BBS101 Bardet-Biedl syndrome 10 47.54(n)
    37.17(a)
      417865  XM_416107.4  XP_416107.4 
    lizard
    (Anolis carolinensis)
    Reptilia BBS106
    Bardet-Biedl syndrome 10
    37(a)
    1 ↔ 1
    4(5811505-5817703)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia bbs101 Bardet-Biedl syndrome 10 55.23(n)
    42.12(a)
      100145168  XM_004912954.1  XP_004913011.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bbs101 Bardet-Biedl syndrome 10 47.61(n)
    34.34(a)
      100034535  NM_001089463.1  NP_001082932.1 


    ENSEMBL Gene Tree for BBS10 (if available)
    TreeFam Gene Tree for BBS10 (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 BBS10 (see all 202)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1416479311,2,,4
    CBardet-Biedl syndrome 10 (BBS10)4 --76587099(+) AAGATA/GGTAAT 2 H Y mis11Minor allele frequency- G:0.00NA 4540
    rs1415219251,2,,4
    C,FBardet-Biedl syndrome 10 (BBS10)4 probable-pathogenic176587200(+) GTAACT/CTACAG 2 /K /R mis11Minor allele frequency- C:0.00NA 4536
    VAR_0662604
    Bardet-Biedl syndrome 10 (BBS10)4--see VAR_0662602 L P mis40--------
    VAR_0264084
    Bardet-Biedl syndrome 10 (BBS10)4--see VAR_0264082 T P mis40--------
    VAR_0263984
    Bardet-Biedl syndrome 10 (BBS10)4--see VAR_0263982 L F mis40--------
    VAR_0263914
    Bardet-Biedl syndrome 10 (BBS10)4--see VAR_0263912 R P mis40--------
    VAR_0263974
    Bardet-Biedl syndrome 10 (BBS10)4--see VAR_0263972 V G mis40--------
    VAR_0264034
    Bardet-Biedl syndrome 10 (BBS10)4--see VAR_0264032 L S mis40--------
    VAR_0662574
    Bardet-Biedl syndrome 10 (BBS10)4--see VAR_0662572 H Q mis40--------
    VAR_0263924
    Bardet-Biedl syndrome 10 (BBS10)4--see VAR_0263922 R W mis40--------

    HapMap Linkage Disequilibrium report for BBS10 (76738254 - 76742222 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for BBS10:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv520195CNV Gain19592680

    Human Gene Mutation Database (HGMD): BBS10
    Locus Specific Mutation Databases (LSDB): BBS10

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BBS10
    DNA2.0 Custom Variant and Variant Library Synthesis for BBS10

    (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: 610148   
    OMIM disorders: 209900  
    UniProtKB/Swiss-Prot: BBS10_HUMAN, Q8TAM1
  • Bardet-Biedl syndrome 10 (BBS10) [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 BBS10 (see all 26):    
    About MalaCards
    bardet-biedl syndrome 10    bbs10-related bardet-biedl syndrome    bardet-biedl syndrome 1, modifier of    labyrinthitis
    bardet-biedl syndrome 15    bardet-biedl syndrome 3    bardet-biedl syndrome 2    bardet-biedl syndrome 14, modifier of
    bardet-biedl syndrome 11    bardet-biedl syndrome 8    bardet-biedl syndrome 13    bardet-biedl syndrome 5
    bardet-biedl syndrome 4    bardet-biedl syndrome 17    bardet-biedl syndrome 9    bardet-biedl syndrome 19
    bardet-biedl syndrome 12    bardet-biedl syndrome 7    bardet-biedl syndrome 1    bardet-biedl syndrome 6

    2 diseases from the University of Copenhagen DISEASES database for BBS10:
    Bardet-Biedl syndrome     Polydactyly

    Find genes that share disorders with BBS10           About GenesLikeMe

    GeneTests: BBS10
    GeneReviews: BBS10
    Genetic Association Database (GAD): BBS10
    Human Genome Epidemiology (HuGE) Navigator: BBS10 (2 documents)

    Export disorders for BBS10 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 BBS10 gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with BBS10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. (PubMed id 16582908)1, 2, 3 Stoetzel C.... Dollfus H. (Nat. Genet. 2006)
    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. Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. (PubMed id 19190184)1, 2 Marion V.... Dollfus H. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome. (PubMed id 23219996)1 Khan S....Ahmad W. (Gene 2013)
    7. A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family. (PubMed id 23403234)1 Agha Z....Qamar R. (Gene 2013)
    8. Proteome-wide identification of ubiquitylation sites by conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (J. Proteome Res. 2012)
    9. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    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. (Hum. Mutat. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79738 HGNC: 26291 AceView: FLJ23560 Ensembl:ENSG00000179941 euGenes: HUgn79738
    ECgene: BBS10 H-InvDB: BBS10

    (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 BBS10 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=BBS10[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 BBS10 gene:
    Search GeneIP for patents involving BBS10

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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