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Aliases for BBS2 Gene

Aliases for BBS2 Gene

  • Bardet-Biedl Syndrome 2 2 3 5
  • RP74 3
  • BBS 3

External Ids for BBS2 Gene

Previous HGNC Symbols for BBS2 Gene

  • BBS

Previous GeneCards Identifiers for BBS2 Gene

  • GC16M046902
  • GC16M056569
  • GC16M056238
  • GC16M056293
  • GC16M055075
  • GC16M042388

Summaries for BBS2 Gene

Entrez Gene Summary for BBS2 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 and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their 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 forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014]

GeneCards Summary for BBS2 Gene

BBS2 (Bardet-Biedl Syndrome 2) is a Protein Coding gene. Diseases associated with BBS2 include bardet-biedl syndrome 2 and retinitis pigmentosa 74. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. GO annotations related to this gene include RNA polymerase II repressing transcription factor binding.

UniProtKB/Swiss-Prot for BBS2 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 BBS2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BBS2 Gene

Genomics for BBS2 Gene

Regulatory Elements for BBS2 Gene

Promoters for BBS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BBS2 on UCSC Golden Path with GeneCards custom track

Genomic Location for BBS2 Gene

Chromosome:
16
Start:
56,466,836 bp from pter
End:
56,520,283 bp from pter
Size:
53,448 bases
Orientation:
Minus strand

Genomic View for BBS2 Gene

Genes around BBS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BBS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BBS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BBS2 Gene

Proteins for BBS2 Gene

  • Protein details for BBS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXC9-BBS2_HUMAN
    Recommended name:
    Bardet-Biedl syndrome 2 protein
    Protein Accession:
    Q9BXC9
    Secondary Accessions:
    • Q96CM0
    • Q96SN9

    Protein attributes for BBS2 Gene

    Size:
    721 amino acids
    Molecular mass:
    79871 Da
    Quaternary structure:
    • Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts (via C-terminus) with BBS7. Interacts (via coiled coil domain) with MKKS. Interacts with CCDC28B and ALDOB.

neXtProt entry for BBS2 Gene

Proteomics data for BBS2 Gene at MOPED

Post-translational modifications for BBS2 Gene

  • Ubiquitination at Lys 9, Lys 39, Lys 231, Lys 345, Lys 360, Lys 609, Lys 659, Lys 673, Lys 691, and Lys 712
  • Modification sites at PhosphoSitePlus

Other Protein References for BBS2 Gene

No data available for DME Specific Peptides for BBS2 Gene

Domains & Families for BBS2 Gene

Gene Families for BBS2 Gene

Suggested Antigen Peptide Sequences for BBS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BBS2: view

No data available for UniProtKB/Swiss-Prot for BBS2 Gene

Function for BBS2 Gene

Molecular function for BBS2 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.
genes like me logo Genes that share phenotypes with BBS2: view

Human Phenotype Ontology for BBS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BBS2 Gene

MGI Knock Outs for BBS2:

Animal Model Products

  • Taconic Biosciences Mouse Models for BBS2

miRNA for BBS2 Gene

miRTarBase miRNAs that target BBS2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for BBS2 Gene

Localization for BBS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BBS2 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BBS2 Gene COMPARTMENTS Subcellular localization image for BBS2 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
cytosol 4
mitochondrion 3
nucleus 1

Gene Ontology (GO) - Cellular Components for BBS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0036064 ciliary basal body IDA 18299575
genes like me logo Genes that share ontologies with BBS2: view

Pathways & Interactions for BBS2 Gene

genes like me logo Genes that share pathways with BBS2: view

Gene Ontology (GO) - Biological Process for BBS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006996 organelle organization TAS --
GO:0007288 sperm axoneme assembly IEA,ISS --
GO:0007601 visual perception IEA,IMP 25541840
GO:0010629 negative regulation of gene expression IEA --
GO:0014824 artery smooth muscle contraction IEA --
genes like me logo Genes that share ontologies with BBS2: view

No data available for SIGNOR curated interactions for BBS2 Gene

Drugs & Compounds for BBS2 Gene

No Compound Related Data Available

Transcripts for BBS2 Gene

Unigene Clusters for BBS2 Gene

Bardet-Biedl syndrome 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BBS2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b · 13c · 13d ^ 14a ·
SP1: - - - - - -
SP2:
SP3: - - -
SP4: -
SP5: - -
SP6:
SP7:
SP8: -
SP9:
SP10: - -
SP11:

ExUns: 14b ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b
SP1: - -
SP2: - -
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for BBS2 Gene

GeneLoc Exon Structure for
BBS2
ECgene alternative splicing isoforms for
BBS2

Expression for BBS2 Gene

mRNA expression in normal human tissues for BBS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BBS2 Gene

This gene is overexpressed in Retina (31.5), Testis (12.5), Ovary (7.8), and Heart (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for BBS2 Gene



SOURCE GeneReport for Unigene cluster for BBS2 Gene Hs.333738

mRNA Expression by UniProt/SwissProt for BBS2 Gene

Q9BXC9-BBS2_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with BBS2: view

Protein tissue co-expression partners for BBS2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for BBS2 Gene

Orthologs for BBS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for BBS2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BBS2 35
  • 89.64 (n)
  • 91.4 (a)
BBS2 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BBS2 35
  • 90.95 (n)
  • 92.79 (a)
BBS2 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bbs2 35
  • 86.87 (n)
  • 90.15 (a)
Bbs2 16
Bbs2 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BBS2 35
  • 99.58 (n)
  • 99.72 (a)
BBS2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bbs2 35
  • 86.13 (n)
  • 89.88 (a)
oppossum
(Monodelphis domestica)
Mammalia BBS2 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 84 (a)
OneToMany
-- 36
  • 70 (a)
OneToMany
chicken
(Gallus gallus)
Aves BBS2 35
  • 72.86 (n)
  • 77.95 (a)
BBS2 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BBS2 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493660 35
  • 72.35 (n)
  • 78.64 (a)
Str.13526 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.14339 35
zebrafish
(Danio rerio)
Actinopterygii bbs2 35
  • 68.67 (n)
  • 75.07 (a)
bbs2 36
  • 74 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10857 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009637 35
  • 47.93 (n)
  • 36.95 (a)
worm
(Caenorhabditis elegans)
Secernentea F20D12.3 37
  • 32 (a)
bbs-2 35
  • 47.07 (n)
  • 35.34 (a)
bbs-2 36
  • 31 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
OneToOne
Species with no ortholog for BBS2:
  • 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)
  • 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 BBS2 Gene

ENSEMBL:
Gene Tree for BBS2 (if available)
TreeFam:
Gene Tree for BBS2 (if available)

Paralogs for BBS2 Gene

(1) SIMAP similar genes for BBS2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with BBS2: view

No data available for Paralogs for BBS2 Gene

Variants for BBS2 Gene

Sequence variations from dbSNP and Humsavar for BBS2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs4784677 Bardet-Biedl syndrome 2 (BBS2) 56,514,589(+) TAATG(C/T)TGAGA nc-transcript-variant, reference, missense
VAR_013163 Bardet-Biedl syndrome 2 (BBS2)
VAR_013164 Bardet-Biedl syndrome 2 (BBS2)
VAR_013164 Retinitis pigmentosa 74 (RP74)
rs11373 - 56,511,263(-) ATGCA(A/G)TTGTG nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for BBS2 Gene

Variant ID Type Subtype PubMed ID
nsv833243 CNV Gain 17160897

Variation tolerance for BBS2 Gene

Residual Variation Intolerance Score: 58.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.79; 66.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BBS2 Gene

HapMap Linkage Disequilibrium report
BBS2
Human Gene Mutation Database (HGMD)
BBS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BBS2 Gene

Disorders for BBS2 Gene

MalaCards: The human disease database

(15) MalaCards diseases for BBS2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bardet-biedl syndrome 2
  • bbs2
retinitis pigmentosa 74
  • rp74
bbs2-related bardet-biedl syndrome
  • bardet-biedl syndrome 2
bardet-biedl syndrome
  • laurence-moon syndrome
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search BBS2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BBS2_HUMAN
  • Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]: 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:11285252, ECO:0000269 PubMed:11567139, ECO:0000269 PubMed:12677556, ECO:0000269 PubMed:12872256, ECO:0000269 PubMed:12920096, ECO:0000269 PubMed:15666242, ECO:0000269 PubMed:16823392, ECO:0000269 PubMed:21344540}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Retinitis pigmentosa 74 (RP74) [MIM:616562]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:25541840}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for BBS2

Genetic Association Database (GAD)
BBS2
Human Genome Epidemiology (HuGE) Navigator
BBS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BBS2
genes like me logo Genes that share disorders with BBS2: view

No data available for Genatlas for BBS2 Gene

Publications for BBS2 Gene

  1. Positional cloning of a novel gene on chromosome 16q causing Bardet- Biedl syndrome (BBS2). (PMID: 11285252) Nishimura D.Y. … Sheffield V.C. (Hum. Mol. Genet. 2001) 2 3 4 23 67
  2. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. (PMID: 12677556) Beales P.L. … Katsanis N. (Am. J. Hum. Genet. 2003) 3 23
  3. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. (PMID: 11567139) Katsanis N. … Lupski J.R. (Science 2001) 3 23
  4. Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort. (PMID: 24400638) Sathya Priya C. … Sripriya S. (Clin. Genet. 2015) 3
  5. Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. (PMID: 25541840) Shevach E. … Sharon D. (JAMA Ophthalmol 2015) 3

Products for BBS2 Gene

Sources for BBS2 Gene

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