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Aliases for BBS4 Gene

Aliases for BBS4 Gene

  • Bardet-Biedl Syndrome 4 2 3 5

External Ids for BBS4 Gene

Previous GeneCards Identifiers for BBS4 Gene

  • GC15P068984
  • GC15P066083
  • GC15P070554
  • GC15P070694
  • GC15P070765
  • GC15P072978
  • GC15P049809

Summaries for BBS4 Gene

Entrez Gene Summary for BBS4 Gene

  • This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

GeneCards Summary for BBS4 Gene

BBS4 (Bardet-Biedl Syndrome 4) is a Protein Coding gene. Diseases associated with BBS4 include bardet-biedl syndrome 4 and 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 microtubule motor activity and RNA polymerase II repressing transcription factor binding. An important paralog of this gene is TTC8.

UniProtKB/Swiss-Prot for BBS4 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 proper BBSome complex assembly and its ciliary localization. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome.

Gene Wiki entry for BBS4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BBS4 Gene

Genomics for BBS4 Gene

Regulatory Elements for BBS4 Gene

Promoters for BBS4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BBS4 on UCSC Golden Path with GeneCards custom track

Genomic Location for BBS4 Gene

Chromosome:
15
Start:
72,686,179 bp from pter
End:
72,738,476 bp from pter
Size:
52,298 bases
Orientation:
Plus strand

Genomic View for BBS4 Gene

Genes around BBS4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BBS4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BBS4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BBS4 Gene

Proteins for BBS4 Gene

  • Protein details for BBS4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96RK4-BBS4_HUMAN
    Recommended name:
    Bardet-Biedl syndrome 4 protein
    Protein Accession:
    Q96RK4
    Secondary Accessions:
    • B4E178
    • Q53DZ5
    • Q8NHU9
    • Q96H45

    Protein attributes for BBS4 Gene

    Size:
    519 amino acids
    Molecular mass:
    58282 Da
    Quaternary structure:
    • Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with PCM1 and DCTN1. Interacts with DC28B. Interacts with ALDOB and C2CD3. Interacts with PKD1 (PubMed:24939912).

    Alternative splice isoforms for BBS4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BBS4 Gene

Proteomics data for BBS4 Gene at MOPED

Post-translational modifications for BBS4 Gene

  • Ubiquitination at Lys 20
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for BBS4 Gene

Domains & Families for BBS4 Gene

Protein Domains for BBS4 Gene

Suggested Antigen Peptide Sequences for BBS4 Gene

Graphical View of Domain Structure for InterPro Entry

Q96RK4

UniProtKB/Swiss-Prot:

BBS4_HUMAN :
  • Belongs to the BBS4 family.
  • Contains 10 TPR repeats.
Family:
  • Belongs to the BBS4 family.
Similarity:
  • Contains 10 TPR repeats.
genes like me logo Genes that share domains with BBS4: view

Function for BBS4 Gene

Molecular function for BBS4 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 proper BBSome complex assembly and its ciliary localization. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome.
genes like me logo Genes that share phenotypes with BBS4: view

Human Phenotype Ontology for BBS4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BBS4 Gene

MGI Knock Outs for BBS4:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for BBS4 Gene

Localization for BBS4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BBS4 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton. Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Cell projection, cilium, flagellum. Note=Localizes to the pericentriolar region throughout the cell cycle. Centrosomal localization requires dynein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BBS4 Gene COMPARTMENTS Subcellular localization image for BBS4 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 5
plasma membrane 5

Gene Ontology (GO) - Cellular Components for BBS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IGI 15107855
GO:0005829 cytosol TAS --
GO:0031513 nonmotile primary cilium IDA 17574030
GO:0031514 motile cilium IDA 18299575
GO:0032391 photoreceptor connecting cilium IEA --
genes like me logo Genes that share ontologies with BBS4: view

Pathways & Interactions for BBS4 Gene

genes like me logo Genes that share pathways with BBS4: view

Gene Ontology (GO) - Biological Process for BBS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization ISS --
GO:0000281 mitotic cytokinesis IMP 15107855
GO:0001764 neuron migration IEA --
GO:0001895 retina homeostasis ISS --
GO:0001947 heart looping ISS --
genes like me logo Genes that share ontologies with BBS4: view

No data available for SIGNOR curated interactions for BBS4 Gene

Drugs & Compounds for BBS4 Gene

No Compound Related Data Available

Transcripts for BBS4 Gene

Unigene Clusters for BBS4 Gene

Bardet-Biedl syndrome 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BBS4 Gene

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:
SP6: - - - -
SP7: - -
SP8: - - -
SP9:

Relevant External Links for BBS4 Gene

GeneLoc Exon Structure for
BBS4
ECgene alternative splicing isoforms for
BBS4

Expression for BBS4 Gene

mRNA expression in normal human tissues for BBS4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BBS4 Gene

This gene is overexpressed in Testis (31.2), Retina (19.5), and Ovary (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for BBS4 Gene



SOURCE GeneReport for Unigene cluster for BBS4 Gene Hs.208681

mRNA Expression by UniProt/SwissProt for BBS4 Gene

Q96RK4-BBS4_HUMAN
Tissue specificity: Ubiquitously expressed. The highest level of expression is found in the kidney.
genes like me logo Genes that share expression patterns with BBS4: view

Protein tissue co-expression partners for BBS4 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for BBS4 Gene

Orthologs for BBS4 Gene

This gene was present in the common ancestor of animals.

Orthologs for BBS4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BBS4 35
  • 90.56 (n)
  • 90.56 (a)
BBS4 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BBS4 35
  • 88.48 (n)
  • 90.62 (a)
BBS4 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bbs4 35
  • 88.16 (n)
  • 89.19 (a)
Bbs4 16
Bbs4 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BBS4 35
  • 99.81 (n)
  • 100 (a)
BBS4 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bbs4 35
  • 87.9 (n)
  • 89.38 (a)
oppossum
(Monodelphis domestica)
Mammalia BBS4 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BBS4 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves BBS4 35
  • 74.25 (n)
  • 77.26 (a)
BBS4 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BBS4 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bbs4 35
  • 69.13 (n)
  • 72.94 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16419 35
zebrafish
(Danio rerio)
Actinopterygii bbs4 35
  • 73 (n)
  • 82.12 (a)
bbs4 36
  • 71 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG13232 37
  • 33 (a)
BBS4 35
  • 48.16 (n)
  • 36.66 (a)
BBS4 36
  • 30 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004828 35
  • 48.39 (n)
  • 38.96 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_F58A4.14 35
  • 48.57 (n)
  • 36.36 (a)
bbs-4 36
  • 28 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5416 35
Species with no ortholog for BBS4:
  • 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 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 BBS4 Gene

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

Paralogs for BBS4 Gene

Paralogs for BBS4 Gene

genes like me logo Genes that share paralogs with BBS4: view

Variants for BBS4 Gene

Sequence variations from dbSNP and Humsavar for BBS4 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
VAR_013170 Bardet-Biedl syndrome 4 (BBS4)
VAR_017049 Bardet-Biedl syndrome 4 (BBS4)
VAR_017050 Bardet-Biedl syndrome 4 (BBS4)
VAR_017051 Bardet-Biedl syndrome 4 (BBS4)
VAR_017052 Bardet-Biedl syndrome 4 (BBS4)

Structural Variations from Database of Genomic Variants (DGV) for BBS4 Gene

Variant ID Type Subtype PubMed ID
dgv755e1 CNV Complex 17122850
nsv428307 CNV Gain 18775914
nsv483057 CNV Loss 15286789
nsv94389 CNV Loss 16902084
esv2749867 CNV Deletion 23290073

Variation tolerance for BBS4 Gene

Residual Variation Intolerance Score: 36% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.93; 87.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BBS4 Gene

HapMap Linkage Disequilibrium report
BBS4
Human Gene Mutation Database (HGMD)
BBS4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BBS4 Gene

Disorders for BBS4 Gene

MalaCards: The human disease database

(10) MalaCards diseases for BBS4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bardet-biedl syndrome 4
  • bbs4
bardet-biedl syndrome
  • laurence-moon syndrome
bardet-biedl syndrome 1
  • bardet-biedl syndrome 1, modifier of
bbs4-related bardet-biedl syndrome
  • bardet-biedl syndrome 4
polydactyly
  • postaxial polydactyly
- elite association - COSMIC cancer census association via MalaCards
Search BBS4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BBS4_HUMAN
  • Bardet-Biedl syndrome 4 (BBS4) [MIM:615982]: 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:11381270, ECO:0000269 PubMed:12016587, ECO:0000269 PubMed:12677556, ECO:0000269 PubMed:12872256, ECO:0000269 PubMed:15666242, ECO:0000269 PubMed:15770229}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for BBS4

Genetic Association Database (GAD)
BBS4
Human Genome Epidemiology (HuGE) Navigator
BBS4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BBS4
genes like me logo Genes that share disorders with BBS4: view

No data available for Genatlas for BBS4 Gene

Publications for BBS4 Gene

  1. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. (PMID: 11381270) Mykytyn K. … Sheffield V.C. (Nat. Genet. 2001) 2 3 4 23 67
  2. Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses. (PMID: 18762586) Kamiya A. … Sawa A. (Arch. Gen. Psychiatry 2008) 3 23
  3. The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. (PMID: 15107855) Kim J.C. … Beales P.L. (Nat. Genet. 2004) 3 23
  4. Cloning and characterization of a splice variant of human Bardet- Biedl syndrome 4 gene (BBS4). (PMID: 15497446) Ye X. … Mao Y. (DNA Seq. 2004) 3 23
  5. The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene. (PMID: 12365916) Riise R. … Sheffield V.C. (Arch. Ophthalmol. 2002) 3 23

Products for BBS4 Gene

Sources for BBS4 Gene

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