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Aliases for BBS7 Gene

Aliases for BBS7 Gene

  • Bardet-Biedl Syndrome 7 2 3
  • BBS2L1 3 4
  • Bardet-Biedl Syndrome 7 Protein 3
  • BBS2-Like Protein 1 4
  • BBS2-Like 1 3

External Ids for BBS7 Gene

Previous GeneCards Identifiers for BBS7 Gene

  • GC04M123028
  • GC04M123138
  • GC04M123204
  • GC04M123103
  • GC04M122965
  • GC04M122745
  • GC04M118472

Summaries for BBS7 Gene

Entrez Gene Summary for BBS7 Gene

  • This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]

GeneCards Summary for BBS7 Gene

BBS7 (Bardet-Biedl Syndrome 7) is a Protein Coding gene. Diseases associated with BBS7 include bardet-biedl syndrome 7 and bbs7-related bardet-biedl syndrome.

UniProtKB/Swiss-Prot for BBS7 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.

Gene Wiki entry for BBS7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BBS7 Gene

Genomics for BBS7 Gene

Regulatory Elements for BBS7 Gene

Genomic Location for BBS7 Gene

Start:
121,824,329 bp from pter
End:
121,870,497 bp from pter
Size:
46,169 bases
Orientation:
Minus strand

Genomic View for BBS7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BBS7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BBS7 Gene

Proteins for BBS7 Gene

  • Protein details for BBS7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWZ6-BBS7_HUMAN
    Recommended name:
    Bardet-Biedl syndrome 7 protein
    Protein Accession:
    Q8IWZ6
    Secondary Accessions:
    • Q4W5P8
    • Q8N581
    • Q9NVI4

    Protein attributes for BBS7 Gene

    Size:
    715 amino acids
    Molecular mass:
    80353 Da
    Quaternary structure:
    • Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with BBS2 (via C-terminus). Interacts with CCDC28B and ALDOB. Interacts with SMO; the interaction is indicative for the association of SMO with the BBsome complex to facilitate ciliary localization of SMO.

    Alternative splice isoforms for BBS7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BBS7 Gene

Proteomics data for BBS7 Gene at MOPED

Post-translational modifications for BBS7 Gene

  • Ubiquitination at Lys355
  • Modification sites at PhosphoSitePlus

Other Protein References for BBS7 Gene

No data available for DME Specific Peptides for BBS7 Gene

Domains for BBS7 Gene

Protein Domains for BBS7 Gene

Suggested Antigen Peptide Sequences for BBS7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BBS7: view

No data available for Gene Families and UniProtKB/Swiss-Prot for BBS7 Gene

Function for BBS7 Gene

Molecular function for BBS7 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.

Gene Ontology (GO) - Molecular Function for BBS7 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
genes like me logo Genes that share ontologies with BBS7: view
genes like me logo Genes that share phenotypes with BBS7: view

Animal Models for BBS7 Gene

MGI Knock Outs for BBS7:

miRNA for BBS7 Gene

miRTarBase miRNAs that target BBS7

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for BBS7 Gene

Localization for BBS7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BBS7 Gene

Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BBS7 Gene COMPARTMENTS Subcellular localization image for BBS7 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for BBS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005813 centrosome IDA 21399614
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane --
GO:0005930 axoneme IBA --
genes like me logo Genes that share ontologies with BBS7: view

Pathways for BBS7 Gene

SuperPathways for BBS7 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BBS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001654 eye development IEA --
GO:0001947 heart looping ISS --
GO:0006357 regulation of transcription from RNA polymerase II promoter IPI 22302990
GO:0006996 organelle organization TAS --
GO:0007224 smoothened signaling pathway IEA --
genes like me logo Genes that share ontologies with BBS7: view

No data available for Pathways by source for BBS7 Gene

Transcripts for BBS7 Gene

Unigene Clusters for BBS7 Gene

Bardet-Biedl syndrome 7:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BBS7 Gene

No ASD Table

Relevant External Links for BBS7 Gene

GeneLoc Exon Structure for
BBS7
ECgene alternative splicing isoforms for
BBS7

Expression for BBS7 Gene

mRNA expression in normal human tissues for BBS7 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for BBS7 Gene

SOURCE GeneReport for Unigene cluster for BBS7 Gene Hs.591694

mRNA Expression by UniProt/SwissProt for BBS7 Gene

Q8IWZ6-BBS7_HUMAN
Tissue specificity: Isoform 2 is ubiquitously expressed. Isoform 1 is expressed in retina, lung, liver, testis, ovary, prostate, small intestine, liver, brain, heart and pancreas
genes like me logo Genes that share expressions with BBS7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for BBS7 Gene

Orthologs for BBS7 Gene

This gene was present in the common ancestor of animals.

Orthologs for BBS7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BBS7 35
  • 99.62 (n)
  • 99.57 (a)
BBS7 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BBS7 35
  • 92.4 (n)
  • 94.13 (a)
BBS7 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BBS7 35
  • 92.31 (n)
  • 95.38 (a)
BBS7 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bbs7 35
  • 87.55 (n)
  • 91.75 (a)
Bbs7 16
Bbs7 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BBS7 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BBS7 36
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bbs7 35
  • 86.81 (n)
  • 91.61 (a)
chicken
(Gallus gallus)
Aves BBS7 35
  • 76.74 (n)
  • 80.14 (a)
BBS7 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BBS7 36
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.3089 35
tropical clawed frog
(Silurana tropicalis)
Amphibia bbs7 35
  • 75.52 (n)
  • 82.8 (a)
Str.12495 35
zebrafish
(Danio rerio)
Actinopterygii bbs7 35
  • 70.12 (n)
  • 76.36 (a)
bbs7 36
  • 76 (a)
OneToOne
Dr.14345 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011899 35
  • 49.88 (n)
  • 47.67 (a)
worm
(Caenorhabditis elegans)
Secernentea osm-12 35
  • 45.93 (n)
  • 34.71 (a)
osm-12 36
  • 33 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
OneToOne
Species with no ortholog for BBS7:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 BBS7 Gene

ENSEMBL:
Gene Tree for BBS7 (if available)
TreeFam:
Gene Tree for BBS7 (if available)

Paralogs for BBS7 Gene

No data available for Paralogs for BBS7 Gene

Variants for BBS7 Gene

Sequence variations from dbSNP and Humsavar for BBS7 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs966555 -- 121,857,830(+) GAGAT(A/G)GAGTC intron-variant
rs1048433 -- 121,827,841(-) AACCT(G/T)TAGAG utr-variant-3-prime, intron-variant
rs1507994 -- 121,828,386(-) GTGTC(A/G)TCGTG intron-variant
rs1507995 -- 121,827,153(-) CTGTA(C/T)ATAAT intron-variant
rs1532968 -- 121,840,699(-) GTCTC(A/G)AAAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BBS7 Gene

Variant ID Type Subtype PubMed ID
nsv507195 CNV Insertion 20534489

Relevant External Links for BBS7 Gene

HapMap Linkage Disequilibrium report
BBS7
Human Gene Mutation Database (HGMD)
BBS7
Locus Specific Mutation Databases (LSDB)
BBS7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BBS7 Gene

Disorders for BBS7 Gene

(1) OMIM Diseases for BBS7 Gene (607590)

UniProtKB/Swiss-Prot

BBS7_HUMAN
  • Note=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including BBS7, influence the clinical outcome.
  • Bardet-Biedl syndrome 7 (BBS7) [MIM:615984]: 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:12567324, ECO:0000269 PubMed:12677556, ECO:0000269 PubMed:15770229, ECO:0000269 PubMed:21344540}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for BBS7 Gene

(1) Novoseek inferred disease relationships for BBS7 Gene

Disease -log(P) Hits PubMed IDs
bardet-biedl syndrome 92.9 3

Relevant External Links for BBS7

GeneTests
BBS7
GeneReviews
BBS7
Genetic Association Database (GAD)
BBS7
Human Genome Epidemiology (HuGE) Navigator
BBS7
genes like me logo Genes that share disorders with BBS7: view

Publications for BBS7 Gene

  1. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. (PMID: 12567324) Badano J.L. … Katsanis N. (Am. J. Hum. Genet. 2003) 3 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4
  5. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. (PMID: 16327777) Badano J.L. … Katsanis N. (Nature 2006) 3 4

Products for BBS7 Gene

Sources for BBS7 Gene

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