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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 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.

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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for BBS7 Gene

Promoters and enhancers for BBS7 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
GH04I121869 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 563.1 +0.2 214 1.8 HDGF PKNOX1 ATF1 ARID4B BRCA1 ZNF48 YY1 ETS1 POLR2B ZNF143 BBS7 ENSG00000261501 CCNA2
GH04I122150 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 14.5 -281.5 -281506 3.7 HDGF PKNOX1 ATF1 SMAD1 ARID4B SIN3A DMAP1 ZNF48 YY1 POLR2B KIAA1109 ENSG00000273007 BBS7 IL2 IL21 RN7SL335P
GH04I121821 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 13.4 +47.3 47327 3 PKNOX1 CLOCK SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 CCNA2 EXOSC9 BBS7 ENSG00000237868
GH04I121798 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.6 +69.7 69738 3.5 SMAD1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B EXOSC9 BBS7 TMEM155 PP12613 ENSG00000237868
GH04I122731 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.5 -862.7 -862706 2.9 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 YY1 POLR2B ZNF143 FOS CETN4P BBS12 EXOSC9 SPATA5 KIAA1109 BBS7 ENSG00000273007 TRPC3 LOC727709
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BBS7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BBS7 gene promoter:

Genomic Locations for BBS7 Gene

Genomic Locations for BBS7 Gene
chr4:121,824,329-121,870,497
(GRCh38/hg38)
Size:
46,169 bases
Orientation:
Minus strand
chr4:122,745,484-122,791,652
(GRCh37/hg19)

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

No data available for DME Specific Peptides for BBS7 Gene

Domains & Families for BBS7 Gene

Gene Families for BBS7 Gene

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

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.

Phenotypes From GWAS Catalog for BBS7 Gene

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:

miRNA for BBS7 Gene

miRTarBase miRNAs that target BBS7

Clone 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BBS7 Gene

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 by RNA polymerase II 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

Drugs & Compounds for BBS7 Gene

No Compound Related Data Available

Transcripts for BBS7 Gene

Unigene Clusters for BBS7 Gene

Bardet-Biedl syndrome 7:
Representative Sequences:

Clone 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

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 33 34
  • 99.62 (n)
cow
(Bos Taurus)
Mammalia BBS7 33 34
  • 92.4 (n)
dog
(Canis familiaris)
Mammalia BBS7 33 34
  • 92.31 (n)
oppossum
(Monodelphis domestica)
Mammalia BBS7 34
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BBS7 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bbs7 33 16 34
  • 87.55 (n)
rat
(Rattus norvegicus)
Mammalia Bbs7 33
  • 86.81 (n)
chicken
(Gallus gallus)
Aves BBS7 33 34
  • 76.74 (n)
lizard
(Anolis carolinensis)
Reptilia BBS7 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bbs7 33
  • 75.52 (n)
Str.12495 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.3089 33
zebrafish
(Danio rerio)
Actinopterygii bbs7 33 34
  • 70.12 (n)
Dr.14345 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011899 33
  • 49.88 (n)
worm
(Caenorhabditis elegans)
Secernentea osm-12 33 34
  • 45.93 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs1053813063 uncertain-significance, Bardet-Biedl syndrome 121,824,864(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1057519027 likely-pathogenic, Bardet-Biedl syndrome 7 121,828,271(-) T/G splice_acceptor_variant
rs114718913 uncertain-significance, Bardet-Biedl syndrome, not specified 121,835,150(-) T/C coding_sequence_variant, missense_variant
rs119466001 pathogenic, Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7 (BBS7) [MIM:615984] 121,847,473(-) T/C coding_sequence_variant, missense_variant
rs119466002 pathogenic, Bardet-Biedl syndrome 1/7, digenic, Bardet-Biedl syndrome, Bardet-Biedl syndrome 7 (BBS7) [MIM:615984] 121,854,790(-) G/A coding_sequence_variant, missense_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)

Additional Variant Information 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

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

- 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.

Additional Disease Information for BBS7

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 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 JL … Katsanis N (American journal of human genetics 2003) 3 4 22 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. A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened. (PMID: 22072986) Seo S … Sheffield VC (PLoS genetics 2011) 3 4 58
  4. BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. (PMID: 20080638) Seo S … Sheffield VC (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4 58
  5. 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

Products for BBS7 Gene

Sources for BBS7 Gene

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