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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. Gene Ontology (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

Additional gene information for BBS5 Gene

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

Genomics for BBS5 Gene

GeneHancer (GH) Regulatory Elements for BBS5 Gene

Promoters and enhancers for BBS5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I169477 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.1 65 2.7 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF213 E2F8 ENSG00000251569 BBS5 PHOSPHO2 FASTKD1 KLHL23
GH02I169507 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 18.8 +31.8 31804 7.9 PKNOX1 FOXA2 FEZF1 FOS JUNB TSHZ1 MEF2D ATF4 MAFF SMARCA4 KLHL41 BBS5 PPIG CCDC173 PHOSPHO2 FASTKD1 KLHL23 GC02P169518 ENSG00000251569
GH02I169462 Enhancer 0.6 ENCODE 0.4 -15.5 -15548 1.3 ZNF189 MZF1 OVOL3 OSR2 PRDM6 ZNF600 FOS WT1 ZBTB17 TRIM28 PHOSPHO2 KLHL23 BBS5 GC02P169409
GH02I169504 Enhancer 0.3 dbSUPER 0.3 +25.6 25581 0.7 ZBTB33 PHOSPHO2 KLHL41 ENSG00000251569 BBS5
GH02I169494 Enhancer 0.2 dbSUPER 0.4 +16.3 16329 1.7 KLHL23 KLHL41 BBS5 ENSG00000251569
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BBS5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BBS5 gene promoter:

Genomic Locations for BBS5 Gene

Genomic Locations for BBS5 Gene
chr2:169,479,178-169,506,655
(GRCh38/hg38)
Size:
27,478 bases
Orientation:
Plus strand
chr2:170,335,688-170,382,432
(GRCh37/hg19)

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

No Post-translational modifications

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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

CRISPR Products

miRNA for BBS5 Gene

miRTarBase miRNAs that target BBS5

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BBS5 gene
Compartment Confidence
cytoskeleton 4
cytosol 4
plasma membrane 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BBS5 Gene

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

Drugs & Compounds for BBS5 Gene

No Compound Related Data Available

Transcripts for BBS5 Gene

Unigene Clusters for BBS5 Gene

Bardet-Biedl syndrome 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone 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 CGAP 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

Phenotype-based relationships between genes and organs from Gene ORGANizer for BBS5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • olfactory bulb
  • pituitary gland
  • skull
  • tooth
Thorax:
  • breast
  • bronchus
  • heart
  • heart valve
  • lung
Abdomen:
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with BBS5: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES 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 33
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia BBS5 33
  • 94.13 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 94 (a)
OneToMany
cow
(Bos Taurus)
Mammalia BBS5 33 34
  • 93.55 (n)
mouse
(Mus musculus)
Mammalia Bbs5 33 16 34
  • 88.66 (n)
rat
(Rattus norvegicus)
Mammalia Bbs5 33
  • 88.47 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 56 (a)
OneToMany
chicken
(Gallus gallus)
Aves BBS5 33 34
  • 82.75 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 49 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia bbs5 33
  • 80.49 (n)
Str.466 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.24758 33
zebrafish
(Danio rerio)
Actinopterygii bbs5 33 34
  • 77.48 (n)
zgc56578 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001301 33
  • 52.67 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1126 33 34
  • 52.47 (n)
worm
(Caenorhabditis elegans)
Secernentea bbs-5 33 34
  • 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 Variation AA Info Type
rs10188609 benign, not specified, Bardet-Biedl syndrome 169,479,592(+) C/G coding_sequence_variant, synonymous_variant
rs121908581 pathogenic, Bardet-Biedl syndrome 5, Bardet-Biedl syndrome 5 (BBS5) [MIM:615983] 169,487,811(+) G/A coding_sequence_variant, missense_variant
rs121908582 pathogenic, Bardet-Biedl syndrome 5, Bardet-Biedl syndrome 5 (BBS5) [MIM:615983] 169,493,765(+) A/G coding_sequence_variant, missense_variant
rs137853921 likely-benign, conflicting-interpretations-of-pathogenicity, likely-pathogenic, not provided, not specified, Bardet-Biedl syndrome, Cone/cone-rod dystrophy 169,493,769(+) A/G coding_sequence_variant, missense_variant
rs143113298 uncertain-significance, Bardet-Biedl syndrome 169,499,555(+) A/G coding_sequence_variant, missense_variant

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)

Additional Variant Information 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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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.

Additional Disease Information for BBS5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Human molecular genetics 2014) 3 4 58
  2. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PMID: 20801516) Booij JC … Florijn RJ (Ophthalmology 2011) 3 44 58
  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 WK … Tiwari HK (Human heredity 2009) 3 44 58
  4. Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients. (PMID: 18203199) Hjortshøj TD … Brøndum-Nielsen K (American journal of medical genetics. Part A 2008) 3 4 58
  5. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. (PMID: 17574030) Nachury MV … Jackson PK (Cell 2007) 3 4 58

Products for BBS5 Gene

Sources for BBS5 Gene

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