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

BBS4 Gene

protein-coding   GIFtS: 60
GCID: GC15P072978

Bardet-Biedl Syndrome 4

  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 41 2
Bardet-Biedl Syndrome 4 Protein2

External Ids:    HGNC: 9691   Entrez Gene: 5852   Ensembl: ENSG000001404637   OMIM: 6003745   UniProtKB: Q96RK43   

Export aliases for BBS4 gene to outside databases

Previous GC identifers: GC15P068984 GC15P066083 GC15P070554 GC15P070694 GC15P070765 GC15P049809


(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 BBS4 Gene:
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal
recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and
mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar
phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's 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 has sequence similarity to O-linked
N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein
'BBSome' complex with six other BBS proteins. Alternative splice variants have been described but their predicted
protein products have not been experimentally verified.(provided by RefSeq, Jan 2009)

GeneCards Summary for BBS4 Gene: 
BBS4 (Bardet-Biedl syndrome 4) is a protein-coding gene. Diseases associated with BBS4 include bardet-biedl syndrome 4, and bbs4-related bardet-biedl syndrome. GO annotations related to this gene include microtubule motor activity and alpha-tubulin binding. An important paralog of this gene is TTC8.

UniProtKB/Swiss-Prot: BBS4_HUMAN, Q96RK4
Function: May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome. Required
for microtubule anchoring at the centrosome but not for microtubule nucleation. 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 BBS4 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_000015.9  NC_018926.2  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BBS4 gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   oct-B3   oct-B2   Nkx2-5   POU2F2   POU2F2C   POU2F1   POU2F1a   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBBS4 promoter sequence
   Search SABiosciences Chromatin IP Primers for BBS4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BBS4


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

Entrez Gene cytogenetic band: 15q22.3-q23   Ensembl cytogenetic band:  15q24.1   HGNC cytogenetic band: 15q22.3-q23

BBS4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BBS4 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P072978:  view genomic region     (about GC identifiers)

Start:
72,978,526 bp from pter      End:
73,030,817 bp from pter
Size:
52,292 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: BBS4_HUMAN, Q96RK4 (See protein sequence)
Recommended Name: Bardet-Biedl syndrome 4 protein  
Size: 519 amino acids; 58282 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. Interacts with DCTN1. Interacts with CCDC28B
Subcellular location: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton.
Cell projection, cilium membrane. Cytoplasm. Note=Localizes to the pericentriolar region throughout the cell
cycle. Centrosomal localization requires dynein. Localizes to nonmembranous centriolar satellites in the
cytoplasm
Secondary accessions: B4E178 Q53DZ5 Q8NHU9 Q96H45
Alternative splicing: 3 isoforms:  Q96RK4-1   Q96RK4-2   Q96RK4-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BBS4: NX_Q96RK4

Explore proteomics data for BBS4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96RK4

  • BBS4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BBS4 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001239607.1  NP_149017.2  

    ENSEMBL proteins: 
     ENSP00000456759   ENSP00000268057   ENSP00000455412   ENSP00000457795   ENSP00000457753  
     ENSP00000457958   ENSP00000456463   ENSP00000456664   ENSP00000454718   ENSP00000456758  
     ENSP00000455958   ENSP00000457479   ENSP00000378631   ENSP00000442492   ENSP00000445964  

    Human Recombinant Protein Products for BBS4: 
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    Novus Biologicals BBS4 Protein
    Novus Biologicals BBS4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for BBS4 

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000242pericentriolar material IDA15107855
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome IDA14520415
    GO:0005814centriole IDA15107855
    GO:0005932microtubule basal body IDA15107855

    BBS4 for ontologies           About GeneDecksing



    BBS4 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for BBS4 

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    Cloud-Clone Corp. CLIAs for BBS4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    TTC: Tetratricopeptide (TTC) repeat domain containing

    3 InterPro protein domains:
     IPR011990 TPR-like_helical
     IPR013026 TPR-contain_dom
     IPR019734 TPR_repeat

    Graphical View of Domain Structure for InterPro Entry Q96RK4

    ProtoNet protein and cluster: Q96RK4

    UniProtKB/Swiss-Prot: BBS4_HUMAN, Q96RK4
    Similarity: Belongs to the BBS4 family
    Similarity: Contains 10 TPR repeats


    BBS4 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: BBS4_HUMAN, Q96RK4
    Function: May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome. Required
    for microtubule anchoring at the centrosome but not for microtubule nucleation. 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): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003777microtubule motor activity IMP15107855
    GO:0005515protein binding IPI15107855
    GO:0034452dynactin binding IDA15107855
    GO:0043014alpha-tubulin binding IDA17574030
    GO:0048487beta-tubulin binding IDA17574030
         
    BBS4 for ontologies           About GeneDecksing


    Phenotypes:
         15/22 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Bbs4) (see all 22):
     adipose tissue  behavior/neurological  cardiovascular system  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size  hearing/vestibular/ear  homeostasis/metabolism 
     immune system  integument  liver/biliary system  mortality/aging  nervous system 

    BBS4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Bbs4tm1Vcs for BBS4

       inGenious Targeting Laboratory - Custom generated mouse model solutions for BBS4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for BBS4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BBS4 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BBS4 

    miRNA
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    hsa-miR-516b hsa-miR-204 hsa-miR-3907 hsa-miR-1299 hsa-miR-211
    SwitchGear 3'UTR luciferase reporter plasmidBBS4 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS4


    (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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BBS4

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

    5/35 Interacting proteins for BBS4 (Q96RK41, 3 ENSP000002680574) via UniProtKB, MINT, STRING, and/or I2D (see all 35)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PCM1Q151541, 3, ENSP000003270774EBI-1805814,EBI-741421 I2D: score=3 STRING: ENSP00000327077
    DCTN1Q142031, 3, ENSP000003547914EBI-1805814,EBI-724352 I2D: score=2 STRING: ENSP00000354791
    ALDOBP050621, 3, ENSP000003639884EBI-1805814,EBI-1045507 I2D: score=1 STRING: ENSP00000363988
    EPAS1Q998141, 3, ENSP000002637344EBI-1805814,EBI-447470 I2D: score=1 STRING: ENSP00000263734
    BBS1Q8NFJ91, 3EBI-1805814,EBI-1805484 I2D: score=1 
    About this table

    Gene Ontology (GO): 5/40 biological process terms (GO ID links to tree view) (see all 40):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000226microtubule cytoskeleton organization ISS--
    GO:0000910cytokinesis IMP15107855
    GO:0001843neural tube closure ISS--
    GO:0001895retina homeostasis ISS--
    GO:0001947heart looping ISS--

    BBS4 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 BBS4

    Search CenterWatch for drugs/clinical trials and news about BBS4

    (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,
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    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 BBS4 gene (2 alternative transcripts): 
    NM_001252678.1  NM_033028.4  

    Unigene Cluster for BBS4:

    Bardet-Biedl syndrome 4
    Hs.208681  [show with all ESTs]
    Unigene Representative Sequence: NR_045566
    18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000566400 ENST00000268057(uc010ukv.2 uc002avd.3 uc002avb.3 uc002avc.3)
    ENST00000565160 ENST00000561914 ENST00000563600 ENST00000569440 ENST00000566938
    ENST00000567279 ENST00000562084 ENST00000569338 ENST00000566829 ENST00000564239
    ENST00000569001 ENST00000562219(uc010bja.3) ENST00000569151 ENST00000566197
    ENST00000568535 ENST00000395205
    miRNA
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    hsa-miR-516b hsa-miR-204 hsa-miR-3907 hsa-miR-1299 hsa-miR-211
    SwitchGear 3'UTR luciferase reporter plasmidBBS4 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BBS4

    Additional mRNA sequence: 

    AF359281.1 AK075321.1 AK298922.1 AK302224.1 AK303706.1 AK310106.1 AK314507.1 AY457143.1 
    BC008923.2 BC027624.2 BX647855.1 NR_045565.1 NR_045566.1 

    16 DOTS entries:

    DT.216161  DT.100773220  DT.100667713  DT.91662306  DT.100784184  DT.95157580  DT.206033  DT.91692876 
    DT.92017117  DT.97858728  DT.99953205  DT.121050800  DT.121050810  DT.40311376  DT.92427711  DT.95290037 

    24/173 AceView cDNA sequences (see all 173):

    AA025945 BU155510 AI860812 NM_033028 F28587 W95777 AI365354 AI979055 
    AA384693 AV728503 AI336198 BM715046 BX118734 BM664845 AI459162 AI685504 
    BM702149 AK075321 BC008923 AA745661 BF437788 BU616847 CA944679 AL047899 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for BBS4 (see all 9)    About this scheme

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


    ECgene alternative splicing isoforms for BBS4

    (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

    BBS4 expression in normal human tissues (normalized intensities)      BBS4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGCTGTCTG
    BBS4 Expression
    About this image


    BBS4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/19 selected tissues (see all 19) fully expand
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Epithelium (Reproductive System)    fully expand to see all 3 entries
             cervix, uterine ; squamous epithelial cells   
             bronchial epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Islets of Langerhans
             pancreas ; exocrine glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             rectum ; glandular cells   

    See BBS4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BBS4

    SOURCE GeneReport for Unigene cluster: Hs.208681

    UniProtKB/Swiss-Prot: BBS4_HUMAN, Q96RK4
    Tissue specificity: Ubiquitously expressed. The highest level of expression is found in the kidney

        SABiosciences Expression via Pathway-Focused PCR Array including BBS4: 
              Primary Cilia in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BBS4

    (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 BBS4 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 Bbs41 , 5 Bardet-Biedl syndrome 4 (human)1, 5 88.67(n)1
    90.15(a)1
      9 (32.01 cM)5
    1027741  NM_175325.31  NP_780534.11 
     593219665 
    chicken
    (Gallus gallus)
    Aves BBS41 Bardet-Biedl syndrome 4 74.44(n)
    77.26(a)
      415318  XM_413706.3  XP_413706.2 
    lizard
    (Anolis carolinensis)
    Reptilia BBS46
    Bardet-Biedl syndrome 4
    74(a)
    1 ↔ 1
    GL343872.1(49259-76891)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.164192 Xenopus laevis transcribed sequences 72.41(n)    BM179755.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bbs41 Bardet-Biedl syndrome 4 73(n)
    82.12(a)
      768303  NM_001077466.1  NP_001070934.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG132323
    BBS41
    BBS41 33(a)3
    46.67(n)1
    35.5(a)1
      361671  NM_136792.11  NP_610636.11 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_F58A4.141 Protein F58A4.14 48.48(n)
    36.36(a)
      3565681  NM_001027454.1  NP_001022625.1 


    ENSEMBL Gene Tree for BBS4 (if available)
    TreeFam Gene Tree for BBS4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BBS4 gene
    TTC82  

    BBS4 for paralogs           About GeneDecksing



    (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

    10/1204 SNPs in BBS4 are shown (see all 1204)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0170524
    Bardet-Biedl syndrome 4 (BBS4)4--see VAR_0170522 S I mis40--------
    VAR_0131704
    Bardet-Biedl syndrome 4 (BBS4)4--see VAR_0131702 R P mis40--------
    VAR_0388954
    Bardet-Biedl syndrome 4 (BBS4)4--see VAR_0388952 L R mis40--------
    VAR_0170504
    Bardet-Biedl syndrome 4 (BBS4)4--see VAR_0170502 L P mis40--------
    VAR_0170514
    Bardet-Biedl syndrome 4 (BBS4)4--see VAR_0170512 A E mis40--------
    VAR_0170494
    Bardet-Biedl syndrome 4 (BBS4)4--see VAR_0170492 N H mis40--------
    VAR_0388974
    Bardet-Biedl syndrome 4 (BBS4)4--see VAR_0388972 P L mis40--------
    VAR_0388964
    Bardet-Biedl syndrome 4 (BBS4)4--see VAR_0388962 D G mis40--------
    rs22775961,2,4
    C,F,HBardet-Biedl syndrome 4 (BBS4)4 --53078803(-) AGACAT/CTGCCT 6 /M /V nc-transcript-variantmis18Minor allele frequency- C:0.01EA NS NA 2164
    rs563687161,2
    Cnon-pathogenic153028191(+) CGCAGA/C/TGGTGG 4 -- nc-transcript-variantut510--------

    HapMap Linkage Disequilibrium report for BBS4 (72978526 - 73030817 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for BBS4:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2749867CNV Deletion23290073
    nsv94389CNV Loss16902084
    nsv483057CNV Loss15286789
    nsv428307CNV Gain18775914
    dgv755e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): BBS4

    Locus Specific Mutation Databases (LSDB): BBS4
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing BBS4
    DNA2.0 Custom Variant and Variant Library Synthesis for BBS4

    (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.)
    About This Section
    OMIM gene information: 600374   
    OMIM disorders: 209900  
    UniProtKB/Swiss-Prot: BBS4_HUMAN, Q96RK4
  • Bardet-Biedl syndrome 4 (BBS4) [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

  • 20 diseases for BBS4:    About MalaCards
    bardet-biedl syndrome 4    bbs4-related bardet-biedl syndrome    pigmentary retinopathy    mckusick-kaufman syndrome
    bardet-biedl syndrome    polydactyly    meckel syndrome    asphyxiating thoracic dystrophy
    tetralogy of fallot    obesity    fundus dystrophy    retinal degeneration
    retinal disease    intellectual disability    retinitis    mental retardation
    diabetes mellitus    cerebritis    hypertension    breast cancer

    4 diseases from the University of Copenhagen DISEASES database for BBS4:
    Bardet-Biedl syndrome     Polydactyly     Fundus dystrophy     Retinal degeneration

    BBS4 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for BBS4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bardet-biedl syndrome 95.2 9 12365916 (3), 15654695 (1), 15107855 (1), 18762586 (1) (see all 6)
    polydactyly 83.6 1 12365916 (1)
    retinal degeneration 67.4 1 15173597 (1)
    retinitis pigmentosa 55.6 1 12365916 (1)
    obesity 49.4 3 12365916 (1), 11381270 (1), 15173597 (1)

    GeneTests: BBS4
    GeneReviews: BBS4
    Genetic Association Database (GAD): BBS4
    Human Genome Epidemiology (HuGE) Navigator: BBS4 (7 documents)

    Export disorders for BBS4 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 BBS4 gene, integrated from 9 sources (see all 38):
    (articles sorted by number of sources associating them with BBS4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. (PubMed id 11381270)1, 2, 3, 9 Mykytyn K.... Sheffield V.C. (2001)
    2. The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. (PubMed id 15107855)1, 2, 9 Kim J.C.... Beales P.L. (2004)
    3. Cloning and characterization of a splice variant of human Bardet- Biedl syndrome 4 gene (BBS4). (PubMed id 15497446)1, 2, 9 Ye X....Mao Y. (2004)
    4. Centrosome-related genes, genetic variation, and risk of breast cancer. (PubMed id 20508983)1, 4 Olson J.E....Couch F.J. (2010)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. 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)
    7. 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)
    8. 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)
    9. Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians. (PubMed id 17003356)1, 4 Benzinou M....Froguel P. (2006)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    (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: 585 HGNC: 969 AceView: BBS4 Ensembl:ENSG00000140463 euGenes: HUgn585
    ECgene: BBS4 H-InvDB: BBS4

    (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 BBS4 Pharmacogenomics, SNPs, Pathways
    Mutations of the BBS4 genehttp://www.retina-international.org/files/sci-news/bbs4mut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BBS4

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BBS4 gene:
    Search GeneIP for patents involving BBS4

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



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    About This Section

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