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

BBS4 Gene

protein-coding   GIFtS: 56
GCID: GC15P072978

Bardet-Biedl syndrome 4
 Explore 16 diseases affiliated with
BBS4 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for BBS4    

Aliases
for BBS4 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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


Summaries
for BBS4 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.1  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 plasmid: BBS4 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

Proteins
for BBS4 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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, 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: Q53DZ5 Q8NHU9 Q96H45
Alternative splicing: 2 isoforms:  Q96RK4-1   Q96RK4-2   (No experimental confirmation available)

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96RK4

    • BBS4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    Novus Biologicals BBS4 Protein
    Novus Biologicals BBS4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for BBS4

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000242pericentriolar material IDA15107855
    GO:0005622intracellular ----
    GO:0005634nucleus ----
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome IDA14520415


    BBS4 for ontologies           About GeneDecksing



    BBS4 Antibody Products: 
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    Uscn Antibodies for BBS4
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    Uscn ELISAs and CLIAs for BBS4

    Protein Domains /
    Families
    for BBS4 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    BBS4 for domains           About GeneDecksing

    3 InterPro domains/families:
     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


    Function
    for BBS4 gene

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

         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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BBS4
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate BBS4:
    hsa-miR-516b hsa-miR-204 hsa-miR-3907 hsa-miR-1299 hsa-miR-211
    SwitchGear 3'UTR luciferase reporter plasmid: BBS4 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BBS4 (see all 7)
    OriGene shRNA RFP: BBS4
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    Gene Editing
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    Clone
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    In Situ Assay
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    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 IPI17574030
    GO:0034452dynactin binding IDA15107855
    GO:0043014alpha-tubulin binding IDA17574030
    GO:0048487beta-tubulin binding IDA17574030


    BBS4 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Bbs4tm1Vcs for BBS4
         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


    Pathways & Interactions
    for BBS4 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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)

    5/32 Interacting proteins for BBS4 (Q96RK41, 3 ENSP000002680574) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PCM1Q151541, 3, ENSP000003270774EBI-1805814,EBI-2563316 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): 5/39 biological process terms (GO ID links to tree view) (see all 39):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000226microtubule cytoskeleton organization ISS--
    GO:0001843neural tube closure ISS--
    GO:0001895retina homeostasis ISS--
    GO:0001947heart looping ISS--
    GO:0003085negative regulation of systemic arterial blood pressure IEA--


    BBS4 for ontologies           About GeneDecksing



    Drugs & Compounds
    for BBS4 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 

    Transcripts
    for BBS4 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate BBS4:
    hsa-miR-516b hsa-miR-204 hsa-miR-3907 hsa-miR-1299 hsa-miR-211
    SwitchGear 3'UTR luciferase reporter plasmid: BBS4 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BBS4 (see all 7)
    OriGene shRNA RFP: BBS4
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BBS4
    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BBS4

    Additional cDNA 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.121050800  DT.40311376  DT.92427711  DT.95290037  DT.121050810  DT.99953205 

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

    AI139162 AV728952 AI979055 AI365354 CR594102 AI813772 CA944679 AI291032 
    AV728503 AI459162 AA384693 AK075321 AI685504 NM_033028 AA025945 W95777 
    AI336198 BM664845 BU155510 BU616847 BF435399 BM702149 AI859323 BM744744 

    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

    Expression
    for BBS4 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATGCTGTCTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    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

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for BBS4 gene

    (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 7/23 species (see all 23)    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
    		 --
    		 76(a)
    		 1 ↔ 1
    		 GL343872.1(49298-67250)
    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
    for BBS4 gene

    (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



    Genomic Variants
    for BBS4 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/954 NCBI SNPs in BBS4 are shown (see all 954)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 15 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs563687161,2
    		C,non-pathogenic72978552(+) CGCAGA/C/TGGTGG 9 -- nc-transcript-variantus2k1 ut510--------
    rs80336041,2
    		C,F,H,non-pathogenic73002035(+) ATGCTA/GCCTAG 4 -- int121Minor allele frequency- G:0.07NS EA NA WA CSA EU 2661
    rs1139941821,2
    		Cnon-pathogenic73002055(+) TTCCTA/GTTTTG 5 I V mis1 ut511Minor allele frequency- G:0.00EU 1287
    rs758479601,2
    		C,F,non-pathogenic73029774(+) TCTTCT/CGAAAT 4 -- int14Minor allele frequency- C:0.08CSA WA NA 246
    rs1136780461,2
    		C,F,non-pathogenic73029929(+) AATAAG/CAATAG 4 -- ut31 nc-transcript-variant4Minor allele frequency- C:0.02CSA WA NA EU 5437
    rs763171571,2
    		C,--72976521(+) AGTACA/CCTCCA 5 -- int1 us2k13Minor allele frequency- C:0.06CSA WA NA 240
    rs118561101,2
    		C,F,A,H,--72976650(+) ATGAAG/ATAAAG 5 -- us2k1 int111Minor allele frequency- A:0.26NA WA CSA EA 373
    rs759272411,2
    		F,--72976667(+) AGACAT/CTTATG 5 -- us2k1 int11Minor allele frequency- C:0.10NA 120
    rs1439518351,2
    		--72976685(+) CCCTAC/TGGACA 5 -- us2k1 int10--------
    rs1468753371,2
    		--72976720(+) TGTGAA/GTTGGC 5 -- int1 us2k10--------

    HapMap Linkage Disequilibrium report for BBS4 (72978526 - 73030817 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for BBS4
         5 CNVs: 77000 87739 5795 0189 3967
    Human Gene Mutation Database (HGMD): BBS4

    Locus Specific Mutation Databases (LSDB): BBS4

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BBS4
    DNA2.0 Custom Variant and Variant Library Synthesis for BBS4

    Disorders / Diseases
    for BBS4 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    BBS4 for disorders           About GeneDecksing

    OMIM gene information: 600374   
    OMIM disorders: 209900  
    UniProtKB/Swiss-Prot: BBS4_HUMAN, Q96RK4
  • Defects in BBS4 are the cause of Bardet-Biedl syndrome type 4 (BBS4) [MIM:209900]. Bardet-Biedl syndrome (BBS)
    • is a genetically heterogeneous, autosomal recessive disorder 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. A relatively high incidence of BBS is found in
    the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high
    rate of consaguinity in these populations and a founder effect

    16 diseases for BBS4:    About MalaCards
    bardet-biedl syndrome    bardet-biedl syndrome 4    pigmentary retinopathy    polydactyly
    mckusick-kaufman syndrome    asphyxiating thoracic dystrophy    obesity    tetralogy of fallot
    fundus dystrophy    retinal degeneration    intellectual disability    meckel syndrome
    retinitis    retinal disease    breast cancer    cerebritis

    3 diseases from the University of Copenhagen DISEASES database for BBS4:
    Polydactyly     Fundus dystrophy     Retinal degeneration

    5 Novoseek 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
    Bardet-Biedl Syndrome

    Human Genome Epidemiology (HuGE) Navigator: BBS4 (7 documents)

    Export disorders for BBS4 gene to outside databases

    Publications
    for BBS4 gene

    (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 37):
    (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. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique. (PubMed id 12872256)1, 2 Hoskins B.E....Beales P.L. (2003)
    8. BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. (PubMed id 12016587)1, 2 Katsanis N.... Lupski J.R. (2002)
    9. Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. (PubMed id 7711739)1, 3 Carmi R....Sheffield V.C. (1995)
    10. The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene. (PubMed id 12365916)1, 9 Riise R....Sheffield V.C. (2002)

    External Searches for BBS4 gene

    (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)

    Genome Databases showing BBS4 gene

    (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

    Other Databases showing BBS4 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing BBS4 gene

    (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

    Intellectual Property
    for BBS4 gene

    (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



    Products
    for BBS4 gene

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    In Situ Hybridization Assays from
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    About This Section

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