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BBS5 Gene

protein-coding   GIFtS: 53
GCID: GC02P170335

Bardet-Biedl Syndrome 5

  See BBS5-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 51 2
Bardet-Biedl Syndrome 5 Protein2

External Ids:    HGNC: 9701   Entrez Gene: 1298802   Ensembl: ENSG000001630937   OMIM: 6036505   UniProtKB: Q8N3I73   

Export aliases for BBS5 gene to outside databases

Previous GC identifers: GC02U990004 GC02P170539 GC02P170161 GC02P170044 GC02P162226


(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 BBS5 Gene:
This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this
syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities.
Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is
required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not
been fully characterized. (provided by RefSeq, Jul 2008)

GeneCards Summary for BBS5 Gene:
BBS5 (Bardet-Biedl syndrome 5) is a protein-coding gene. Diseases associated with BBS5 include bardet-biedl syndrome 5, and bbs5-related bardet-biedl syndrome. GO annotations related to this gene include phosphatidylinositol-3-phosphate binding. An important paralog of this gene is ENSG00000251569.

UniProtKB/Swiss-Prot: BBS5_HUMAN, Q8N3I7
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
BBSome complex ciliary localization but not for the proper complex assembly

Gene Wiki entry for BBS5 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_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the BBS5 gene promoter:
         TBP   FOXF2   STAT1beta   FOXD3   STAT1alpha   GATA-1   C/EBPalpha   FOXO4   Cart-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBBS5 promoter sequence
   Search Chromatin IP Primers for BBS5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BBS5


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

Entrez Gene cytogenetic band: 2q31.1   Ensembl cytogenetic band:  2q31.1   HGNC cytogenetic band: 2q31

BBS5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BBS5 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P170335:  view genomic region     (about GC identifiers)

Start:
170,335,688 bp from pter      End:
170,382,432 bp from pter
Size:
46,745 bases      Orientation:
plus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BBS5_HUMAN, Q8N3I7 (See protein sequence)
Recommended Name: Bardet-Biedl syndrome 5 protein  
Size: 341 amino acids; 38755 Da
Subunit: Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Binds to
phosphoinositides. Interacts with CCDC28B. Interacts with SMO; the interaction is indicative for the association
of SMO with the BBsome complex to facilitate ciliary localization of SMO
Miscellaneous: BBS5 may interact genetically with BBS1
Secondary accessions: D3DPC3 Q6PKN0
Alternative splicing: 2 isoforms:  Q8N3I7-1   Q8N3I7-2   

Explore the universe of human proteins at neXtProt for BBS5: NX_Q8N3I7

Explore proteomics data for BBS5 at MOPED


See BBS5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_689597.1  
ENSEMBL proteins: 
 ENSP00000295240   ENSP00000376431   ENSP00000406182   ENSP00000452313  

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antibodies-online proteins for BBS5 (3 products) 

 
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antibodies-online antibodies for BBS5 (22 products) 

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR006606 BBL5

Graphical View of Domain Structure for InterPro Entry Q8N3I7

ProtoNet protein and cluster: Q8N3I7

UniProtKB/Swiss-Prot: BBS5_HUMAN, Q8N3I7
Similarity: Belongs to the BBS5 family


Find genes that share domains with BBS5           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: BBS5_HUMAN, Q8N3I7
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
BBSome complex ciliary localization but not for the proper complex assembly

     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 IPI16327777
GO:0032266phosphatidylinositol-3-phosphate binding IDA17574030
     
Find genes that share ontologies with BBS5           About GenesLikeMe


Phenotypes:
     1 GenomeRNAi human phenotype for BBS5:
 Increased gamma-H2AX phosphory 

     1 MGI phenotypic allele for Bbs5 (no phenotypes)

Find genes that share phenotypes with BBS5           About GenesLikeMe

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BBS5
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Selected qRT-PCR Assays for microRNAs that regulate BBS5 (see all 9):
hsa-miR-548a-3p hsa-miR-3607-3p hsa-miR-548d-3p hsa-miR-548am hsa-miR-548x hsa-miR-548e hsa-miR-590-3p hsa-miR-3907
SwitchGear 3'UTR luciferase reporter plasmidBBS5 3' UTR sequence
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Predesigned siRNA for gene silencing in human, mouse, rat BBS5

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
BBS5_HUMAN, Q8N3I7: Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body (By
similarity). Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.
Note=Localizes to basal bodies (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane5
cytoskeleton3
cytosol2
nucleus2

Gene Ontology (GO): 5 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005622intracellular IDA--
GO:0005737cytoplasm IEA--
GO:0034464BBSome IDA17574030
GO:0036064ciliary basal body ISS--
GO:0060170ciliary membrane IEA--

Find genes that share ontologies with BBS5           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 BBS5
Interactions:

    Search GeneGlobe Interaction Network for BBS5

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

Selected Interacting proteins for BBS5 (Q8N3I71, 3 ENSP000002952404) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
InteractantInteraction Details
GeneCardExternal ID(s)
BBS9Q3SYG41, 3, ENSP000002420674EBI-2892592,EBI-2826852 I2D: score=1 STRING: ENSP00000242067
BBS4Q96RK43, ENSP000002680574I2D: score=1 STRING: ENSP00000268057
KLC1Q078663, ENSP000004149824I2D: score=4 STRING: ENSP00000414982
PANK1Q8TE043I2D: score=3 
BBS1Q8NFJ93I2D: score=1 
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Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0001947heart looping ISS--
GO:0007601visual perception IEA--
GO:0015031protein transport IEA--
GO:0032402melanosome transport ISS--
GO:0042384cilium assembly IMP17574030

Find genes that share ontologies with BBS5           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 BBS5



(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 BBS5 gene: 
NM_152384.2  

Unigene Cluster for BBS5:

Bardet-Biedl syndrome 5
Hs.233398  [show with all ESTs]
Unigene Representative Sequence: NM_152384
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000295240(uc002uet.3) ENST00000469980 ENST00000392663(uc010fpw.3)
ENST00000443151 ENST00000475571 ENST00000472667 ENST00000554017
miRNA
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Selected qRT-PCR Assays for microRNAs that regulate BBS5 (see all 9):
hsa-miR-548a-3p hsa-miR-3607-3p hsa-miR-548d-3p hsa-miR-548am hsa-miR-548x hsa-miR-548e hsa-miR-590-3p hsa-miR-3907
SwitchGear 3'UTR luciferase reporter plasmidBBS5 3' UTR sequence
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat BBS5
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OriGene ORF clones in mouse, rat for BBS5
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: BBS5 (NM_152384)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for BBS5
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BBS5
Primer
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OriGene qPCR primer pairs and template standards for BBS5
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Pre-validated RT2 qPCR Primer Assay in human, mouse / rat BBS5
  QuantiTect SYBR Green Assays in human, mouse, rat BBS5
  QuantiFast Probe-based Assays in human, mouse, rat BBS5

Additional mRNA sequence: 

AK097935.1 AK312680.1 AL834305.1 AY604003.1 AY604004.1 BC044593.1 

5 DOTS entries:

DT.408904  DT.91892732  DT.99992499  DT.97798490  DT.97838589 

Selected AceView cDNA sequences (see all 63):

AA448124 AW589856 BX098313 AA447982 R59861 AI491795 AA054234 AI858037 
BP375576 AY604003 AA724858 AW418788 BC044593 AA043705 AW196355 AL834305 
CA391386 AI651117 BI755030 AI539135 CB069781 AA883999 CA447003 AI093191 

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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BBS5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TTCGGTTTAA
BBS5 Expression
About this image


BBS5 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Eye (Sensory Organs)
         Retina
 
 Testis (Reproductive System)
BBS5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

BBS5 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.233398
    Custom PCR Arrays for BBS5
Primer
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QuantiFast Probe-based Assays in human, mouse, rat BBS5
In Situ
Assay Products:
 

 
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(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 BBS5 gene from Selected species (see all 15)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Bbs51 , 5 Bardet-Biedl syndrome 5 (human)1, 5 88.66(n)1
96.48(a)1
  2 (40.91 cM)5
725691  NM_028284.21  NP_082560.11 
 696471715 
chicken
(Gallus gallus)
Aves BBS51 Bardet-Biedl syndrome 5 82.75(n)
90(a)
  424165  NM_001252031.1  NP_001238960.1 
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
49(a)
1 → many
GL343362.1(399089-428802)
African clawed frog
(Xenopus laevis)
Amphibia Xl.247582 Xenopus laevis transcribed sequence with weak similarity more 81.88(n)    BX852628.1 
zebrafish
(Danio rerio)
Actinopterygii zgc565782 hypothetical protein MGC56578 80.19(n)   393269  BC049492.1 
fruit fly
(Drosophila melanogaster)
Insecta CG11261 CG1126 52.47(n)
49.11(a)
  40600  NM_141242.3  NP_649499.1 
worm
(Caenorhabditis elegans)
Secernentea bbs-51 bbs-5 53.15(n)
47.45(a)
  187516  NM_066871.1  NP_499272.1 


ENSEMBL Gene Tree for BBS5 (if available)
TreeFam Gene Tree for BBS5 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for BBS5 gene
ENSG000002515692  
3 SIMAP similar genes for BBS5 using alignment to 3 protein entries:     BBS5_HUMAN (see all proteins):
KLHL41    SARCOSIN    KLHL40

Find genes that share paralogs with BBS5           About GenesLikeMe


1 Pseudogenes.org Pseudogene for BBS5
PGOHUM00000241011


(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 BBS5 (see all 622)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0662904
Bardet-Biedl syndrome 5 (BBS5)4--see VAR_0662902 G S mis40--------
rs1378539211,2
C,Funtested1170350279(+) TACCAA/GTGTGA 2 N S mis12Minor allele frequency- G:0.00NA EU 5847
rs1893584611,2
--170334024(+) TCACAC/TTATTA 1 -- us2k10--------
rs764050071,2
C,F--170334071(+) TCCAGA/CTCAGT 1 -- us2k11Minor allele frequency- C:0.04WA 118
rs739716101,2
C,F--170334271(+) CATGTG/AAGCTG 1 -- us2k13Minor allele frequency- A:0.12WA CSA 121
rs1123986361,2
C,F--170334328(+) GTTTCG/ACTCTT 1 -- us2k12Minor allele frequency- A:0.12CSA WA 119
rs1485382761,2
--170334366(+) GATCTC/TGGCTC 1 -- us2k10--------
rs1425965531,2
--170334368(+) TCTCGA/GCTCAC 1 -- us2k10--------
rs1925274461,2
--170334423(+) CTCCCA/GAGTAG 1 -- us2k10--------
rs765457041,2
C,F--170334596(+) CCAGCC/TCAAGC 1 -- us2k13Minor allele frequency- T:0.14WA CSA 121

HapMap Linkage Disequilibrium report for BBS5 (170335688 - 170382432 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for BBS5 (see all 14):    About this table    
Variant IDTypeSubtypePubMed ID
esv1600177CNV Deletion17803354
nsv818095CNV Loss17921354
nsv875389CNV Loss21882294
nsv875406CNV Loss21882294
dgv4361n71CNV Loss21882294
dgv4358n71CNV Loss21882294
dgv4360n71CNV Loss21882294
nsv875401CNV Loss21882294
nsv875385CNV Loss21882294
dgv4357n71CNV Loss21882294

Human Gene Mutation Database (HGMD): BBS5
Locus Specific Mutation Databases (LSDB): BBS5

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing BBS5
DNA2.0 Custom Variant and Variant Library Synthesis for BBS5

(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: 603650   
OMIM disorders: 209900  
UniProtKB/Swiss-Prot: BBS5_HUMAN, Q8N3I7
  • Bardet-Biedl syndrome 5 (BBS5) [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 BBS5 (see all 22):    
    About MalaCards
    bardet-biedl syndrome 5    bbs5-related bardet-biedl syndrome    bardet-biedl syndrome 2    bardet-biedl syndrome 10
    bardet-biedl syndrome 4    bardet-biedl syndrome 1, modifier of    bardet-biedl syndrome 15    bardet-biedl syndrome 3
    bardet-biedl syndrome 12    bardet-biedl syndrome 1    bardet-biedl syndrome 14, modifier of    bardet-biedl syndrome 11
    bardet-biedl syndrome 8    bardet-biedl syndrome 13    bardet-biedl syndrome 17    bardet-biedl syndrome 9
    bardet-biedl syndrome 19    bardet-biedl syndrome 7    bardet-biedl syndrome 6    bardet-biedl syndrome 14

    3 diseases from the University of Copenhagen DISEASES database for BBS5:
    Bardet-Biedl syndrome     Polydactyly     Fundus dystrophy

    Find genes that share disorders with BBS5           About GenesLikeMe

    GeneTests: BBS5
    GeneReviews: BBS5
    Genetic Association Database (GAD): BBS5
    Human Genome Epidemiology (HuGE) Navigator: BBS5 (2 documents)

    Export disorders for BBS5 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 BBS5 gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with BBS5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. 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)
    4. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. (PubMed id 16327777)1, 2 Badano J.L.... Katsanis N. (Nature 2006)
    5. 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)
    6. Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. (PubMed id 15137946)1, 2 Li J.B....Dutcher S.K. (Cell 2004)
    7. 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)
    8. Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus. (PubMed id 9888993)1, 3 Woods M.O....Davidson W.S. (Genomics 1999)
    9. A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31. (PubMed id 10053027)1, 3 Young T.L....Davidson W.S. (Am. J. Hum. Genet. 1999)
    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: 129880 HGNC: 970 AceView: BBS5 Ensembl:ENSG00000163093 euGenes: HUgn129880
    ECgene: BBS5 H-InvDB: BBS5

    (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 BBS5 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=BBS5[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 BBS5 gene:
    Search GeneIP for patents involving BBS5

    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, antibodies-online, 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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