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Aliases for BBS7 Gene

Aliases for BBS7 Gene

  • Bardet-Biedl Syndrome 7 2 3 5
  • 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 Bardet-Biedl Syndrome. Among its related pathways are Cargo trafficking to the periciliary membrane and Organelle biogenesis and maintenance. GO annotations related to this gene include RNA polymerase II repressing transcription factor binding.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BBS7 Gene

Genomics for BBS7 Gene

Regulatory Elements for BBS7 Gene

Enhancers for BBS7 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
GH04G121788 1.3 ENCODE dbSUPER 11.4 +79.9 79928 3.3 PKNOX1 ATF1 ARNT SIN3A FEZF1 TCF12 ZNF766 GATA2 FOS JUNB TMEM155 PP12613 CCNA2 BBS7 EXOSC9
GH04G121794 1.3 Ensembl ENCODE 11.4 +74.7 74707 2.5 ATF1 PKNOX1 ARNT ZFP64 E2F7 ZNF2 TCF12 ZNF766 GATA2 KLF7 TMEM155 PP12613 CCNA2 BBS7 EXOSC9
GH04G121821 1.1 ENCODE 13.4 +47.3 47328 3.0 PKNOX1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 FOS SP3 EXOSC9 BBS7 CCNA2
GH04G121798 1.1 ENCODE 12.6 +69.7 69739 3.5 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 ZNF207 BBS7 TMEM155 PP12613 EXOSC9
GH04G121783 1.2 Ensembl ENCODE dbSUPER 11.3 +85.3 85344 3.6 PKNOX1 JUN SIN3A CEBPG ZNF316 EED RCOR1 TRIM24 IKZF2 EGR2 TMEM155 PP12613 BBS7 EXOSC9
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BBS7 on UCSC Golden Path with GeneCards custom track

Promoters for BBS7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000172672 197 1800 HDGF PKNOX1 ATF1 ARID4B SIN3A BRCA1 ZNF48 YY1 GATA2 ZNF143

Genomic Location for BBS7 Gene

Chromosome:
4
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

Genes around BBS7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BBS7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for BBS7 Gene

  • Ubiquitination at Lys355
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BBS7 Gene

Domains & Families for BBS7 Gene

Gene Families 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 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

Human Phenotype Ontology for BBS7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BBS7 Gene

MGI Knock Outs for BBS7:

Animal Model Products

CRISPR Products

miRNA for BBS7 Gene

miRTarBase miRNAs that target BBS7

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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. Cytoplasm, cytoskeleton, cilium basal body.

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 BBS7 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 4
plasma membrane 3

Gene Ontology (GO) - Cellular Components for BBS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21399614
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with BBS7: view

Pathways & Interactions for BBS7 Gene

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

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:0006810 transport IEA --
GO:0007224 smoothened signaling pathway IEA --
genes like me logo Genes that share ontologies with BBS7: view

No data available for SIGNOR curated interactions for BBS7 Gene

Transcripts for BBS7 Gene

Unigene Clusters for BBS7 Gene

Bardet-Biedl syndrome 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for BBS7 Gene

Protein differential expression in normal tissues from HIPED for BBS7 Gene

This gene is overexpressed in Retina (31.6), Testis (17.9), and Ovary (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BBS7 Gene



Protein tissue co-expression partners for BBS7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BBS7 Gene:

BBS7

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.

Evidence on tissue expression from TISSUES for BBS7 Gene

  • Nervous system(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BBS7 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 BBS7: view

Primer Products

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 34 35
  • 99.62 (n)
cow
(Bos Taurus)
Mammalia BBS7 34 35
  • 92.4 (n)
dog
(Canis familiaris)
Mammalia BBS7 34 35
  • 92.31 (n)
oppossum
(Monodelphis domestica)
Mammalia BBS7 35
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BBS7 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bbs7 34 16 35
  • 87.55 (n)
rat
(Rattus norvegicus)
Mammalia Bbs7 34
  • 86.81 (n)
chicken
(Gallus gallus)
Aves BBS7 34 35
  • 76.74 (n)
lizard
(Anolis carolinensis)
Reptilia BBS7 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bbs7 34
  • 75.52 (n)
Str.12495 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.3089 34
zebrafish
(Danio rerio)
Actinopterygii bbs7 34 35
  • 70.12 (n)
Dr.14345 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011899 34
  • 49.88 (n)
worm
(Caenorhabditis elegans)
Secernentea osm-12 34 35
  • 45.93 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 53 (a)
OneToOne
Species where no ortholog for BBS7 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)
  • 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
rs119466001 Pathogenic, Bardet-Biedl syndrome 7 (BBS7) [MIM:615984] 121,847,473(-) CATTC(A/G)TAAGG reference, missense
rs119466002 Pathogenic, Bardet-Biedl syndrome 7 (BBS7) [MIM:615984] 121,854,790(-) TGGGA(C/T)ATCAG reference, missense
rs754579374 Bardet-Biedl syndrome 7 (BBS7) [MIM:615984] 121,861,658(+) CGGCC(C/T)GGGTA reference, missense
VAR_038893 Bardet-Biedl syndrome 7 (BBS7) [MIM:615984]
rs587777812 Pathogenic 121,854,710(+) TCCTC(-/TCTT)TTTCT reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
nsv1131823 CNV deletion 24896259
nsv507195 OTHER sequence alteration 20534489
nsv997539 CNV gain 25217958

Variation tolerance for BBS7 Gene

Residual Variation Intolerance Score: 14.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.88; 35.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BBS7 Gene

Human Gene Mutation Database (HGMD)
BBS7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BBS7

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

Disorders for BBS7 Gene

MalaCards: The human disease database

(18) MalaCards diseases for BBS7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bardet-biedl syndrome 7
  • bbs7
bardet-biedl syndrome
  • biedl-bardet syndrome
bardet-biedl syndrome 1
  • bardet-biedl syndrome 1, modifier of
bbs7-related bardet-biedl syndrome
  • bardet-biedl syndrome 7
bardet-biedl syndrome 8
  • bbs8
- elite association - COSMIC cancer census association via MalaCards
Search BBS7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BBS7_HUMAN
  • 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.
  • 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.

Relevant External Links for BBS7

Genetic Association Database (GAD)
BBS7
Human Genome Epidemiology (HuGE) Navigator
BBS7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BBS7
genes like me logo Genes that share disorders with BBS7: view

No data available for Genatlas for BBS7 Gene

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 22 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. BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. (PMID: 20080638) Seo S. … Sheffield V.C. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 4 64
  4. 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
  5. BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. (PMID: 19402160) Bin J. … HAcon E. (Hum. Mutat. 2009) 3 46 64

Products for BBS7 Gene

Sources for BBS7 Gene

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