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Aliases for BBS5 Gene

Aliases for BBS5 Gene

  • Bardet-Biedl Syndrome 5 2 3 5

External Ids for BBS5 Gene

Previous GeneCards Identifiers for BBS5 Gene

  • GC02U990004
  • GC02P170539
  • GC02P170161
  • GC02P170044
  • GC02P170335
  • GC02P162226

Summaries for BBS5 Gene

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 Bardet-Biedl Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. GO annotations related to this gene include RNA polymerase II repressing transcription factor binding and phosphatidylinositol-3-phosphate binding. An important paralog of this gene is ENSG00000251569.

UniProtKB/Swiss-Prot for BBS5 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BBS5 Gene

Genomics for BBS5 Gene

Regulatory Elements for BBS5 Gene

Enhancers for BBS5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F169477 0.5 ENCODE 12.7 0.0 -41 2.5 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CBX5 BBS5 PHOSPHO2 FASTKD1 KLHL23 GC02P169409
GH02F169507 1.1 Ensembl ENCODE 8 +31.8 31804 7.9 ATF1 PKNOX1 FEZF1 ZNF766 FOS JUNB REST TSHZ1 MEF2D MAFF CCDC173 BBS5 PHOSPHO2 FASTKD1 KLHL23 KLHL41 GC02P169518
GH02F169462 0.2 ENCODE 0.3 -15.5 -15549 1.3 ZNF263 CBX3 OVOL3 OSR2 ZNF600 FOS WT1 MAFK TRIM28 PHOSPHO2 KLHL23 BBS5 GC02P169409
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around BBS5 on UCSC Golden Path with GeneCards custom track

Promoters for BBS5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000304998 622 1600 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CBX5

Genomic Location for BBS5 Gene

Chromosome:
2
Start:
169,479,178 bp from pter
End:
169,506,655 bp from pter
Size:
27,478 bases
Orientation:
Plus strand

Genomic View for BBS5 Gene

Genes around BBS5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BBS5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BBS5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BBS5 Gene

Proteins for BBS5 Gene

  • Protein details for BBS5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N3I7-BBS5_HUMAN
    Recommended name:
    Bardet-Biedl syndrome 5 protein
    Protein Accession:
    Q8N3I7
    Secondary Accessions:
    • D3DPC3
    • Q6PKN0

    Protein attributes for BBS5 Gene

    Size:
    341 amino acids
    Molecular mass:
    38755 Da
    Quaternary structure:
    • 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. Interacts with PKD1 (PubMed:24939912).
    Miscellaneous:
    • BBS5 may interact genetically with BBS1.

    Alternative splice isoforms for BBS5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BBS5 Gene

Post-translational modifications for BBS5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BBS5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BBS5 Gene

Domains & Families for BBS5 Gene

Gene Families for BBS5 Gene

Protein Domains for BBS5 Gene

Suggested Antigen Peptide Sequences for BBS5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N3I7

UniProtKB/Swiss-Prot:

BBS5_HUMAN :
  • Belongs to the BBS5 family.
Family:
  • Belongs to the BBS5 family.
genes like me logo Genes that share domains with BBS5: view

Function for BBS5 Gene

Molecular function for BBS5 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for BBS5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001103 RNA polymerase II repressing transcription factor binding IPI 22302990
GO:0005515 protein binding IPI 16327777
GO:0032266 phosphatidylinositol-3-phosphate binding IDA 17574030
genes like me logo Genes that share ontologies with BBS5: view
genes like me logo Genes that share phenotypes with BBS5: view

Human Phenotype Ontology for BBS5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BBS5 Gene

MGI Knock Outs for BBS5:
  • Bbs5 tm1b(EUCOMM)Wtsi

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for BBS5 Gene

Localization for BBS5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BBS5 Gene

Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Note=Localizes to basal bodies. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BBS5 Gene COMPARTMENTS Subcellular localization image for BBS5 gene
Compartment Confidence
cytosol 4
plasma membrane 4
cytoskeleton 3

Gene Ontology (GO) - Cellular Components for BBS5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with BBS5: view

Pathways & Interactions for BBS5 Gene

genes like me logo Genes that share pathways with BBS5: view

Gene Ontology (GO) - Biological Process for BBS5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001947 heart looping ISS --
GO:0006810 transport IEA --
GO:0007601 visual perception IEA --
GO:0015031 protein transport IEA --
GO:0030030 cell projection organization IEA --
genes like me logo Genes that share ontologies with BBS5: view

No data available for SIGNOR curated interactions for BBS5 Gene

Transcripts for BBS5 Gene

Unigene Clusters for BBS5 Gene

Bardet-Biedl syndrome 5:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BBS5 Gene

No ASD Table

Relevant External Links for BBS5 Gene

GeneLoc Exon Structure for
BBS5
ECgene alternative splicing isoforms for
BBS5

Expression for BBS5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BBS5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BBS5 Gene

This gene is overexpressed in Retina (39.5) and Testis (21.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BBS5 Gene



Protein tissue co-expression partners for BBS5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BBS5 Gene:

BBS5

SOURCE GeneReport for Unigene cluster for BBS5 Gene:

Hs.233398
genes like me logo Genes that share expression patterns with BBS5: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for BBS5 Gene

Orthologs for BBS5 Gene

This gene was present in the common ancestor of animals.

Orthologs for BBS5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BBS5 34
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia BBS5 34
  • 94.13 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 94 (a)
OneToMany
cow
(Bos Taurus)
Mammalia BBS5 34 35
  • 93.55 (n)
mouse
(Mus musculus)
Mammalia Bbs5 34 16 35
  • 88.66 (n)
rat
(Rattus norvegicus)
Mammalia Bbs5 34
  • 88.47 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 56 (a)
OneToMany
chicken
(Gallus gallus)
Aves BBS5 34 35
  • 82.75 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 49 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia bbs5 34
  • 80.49 (n)
Str.466 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.24758 34
zebrafish
(Danio rerio)
Actinopterygii bbs5 34 35
  • 77.48 (n)
zgc56578 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001301 34
  • 52.67 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1126 34 35
  • 52.47 (n)
worm
(Caenorhabditis elegans)
Secernentea bbs-5 34 35
  • 53.15 (n)
Species where no ortholog for BBS5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BBS5 Gene

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

Paralogs for BBS5 Gene

Paralogs for BBS5 Gene

(3) SIMAP similar genes for BBS5 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for BBS5 Gene

genes like me logo Genes that share paralogs with BBS5: view

Variants for BBS5 Gene

Sequence variations from dbSNP and Humsavar for BBS5 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs121908581 Bardet-Biedl syndrome 5 (BBS5) [MIM:615983], Pathogenic 169,487,811(+) CTGTC(A/G)GTTAC reference, missense
rs121908582 Bardet-Biedl syndrome 5 (BBS5) [MIM:615983], Pathogenic 169,493,765(+) TTATT(A/G)CCAAT reference, missense
rs179363897 Pathogenic 169,492,900(+) GTATC(A/G)TGATT reference, missense
rs587777828 Pathogenic 169,493,012(+) CAGGT(A/G)TTGTG intron-variant
rs786205636 Likely pathogenic 169,493,750(+) ATTTA(A/G)GAACC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for BBS5 Gene

Variant ID Type Subtype PubMed ID
dgv7157n54 CNV loss 21841781
esv1600177 CNV deletion 17803354
nsv1011368 CNV loss 25217958
nsv518894 CNV gain 19592680
nsv521651 CNV gain 19592680
nsv583602 CNV loss 21841781
nsv583603 CNV loss 21841781
nsv818095 CNV loss 17921354

Variation tolerance for BBS5 Gene

Residual Variation Intolerance Score: 44.1% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BBS5 Gene

Human Gene Mutation Database (HGMD)
BBS5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BBS5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BBS5 Gene

Disorders for BBS5 Gene

MalaCards: The human disease database

(9) MalaCards diseases for BBS5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bardet-biedl syndrome 5
  • bbs5
bardet-biedl syndrome
  • biedl-bardet syndrome
bardet-biedl syndrome 11
  • bbs11
bardet-biedl syndrome 10
  • bbs10
bardet-biedl syndrome 2
  • bbs2
- elite association - COSMIC cancer census association via MalaCards
Search BBS5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BBS5_HUMAN
  • Bardet-Biedl syndrome 5 (BBS5) [MIM:615983]: 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. {ECO:0000269 PubMed:15137946, ECO:0000269 PubMed:18203199, ECO:0000269 PubMed:21344540}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for BBS5

Genetic Association Database (GAD)
BBS5
Human Genome Epidemiology (HuGE) Navigator
BBS5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BBS5
genes like me logo Genes that share disorders with BBS5: view

No data available for Genatlas for BBS5 Gene

Publications for BBS5 Gene

  1. Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein. (PMID: 24939912) Su X. … Zhou J. (Hum. Mol. Genet. 2014) 3 4 64
  2. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PMID: 20801516) Booij J.C. … Florijn R.J. (Ophthalmology 2011) 3 46 64
  3. Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations. (PMID: 19077438) Chung W.K. … Tiwari H.K. (Hum. Hered. 2009) 3 46 64
  4. Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients. (PMID: 18203199) HjortshA … ndum-Nielsen K. (Am. J. Med. Genet. A 2008) 3 4 64
  5. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. (PMID: 17574030) Nachury M.V. … Jackson P.K. (Cell 2007) 3 4 64

Products for BBS5 Gene

Sources for BBS5 Gene

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