Free for academic non-profit institutions. Other users need a Commercial license

Aliases for BBS2 Gene

Aliases for BBS2 Gene

  • Bardet-Biedl Syndrome 2 2 3
  • Bardet-Biedl Syndrome 2 Protein 3
  • BBS 3

External Ids for BBS2 Gene

Previous Symbols for BBS2 Gene

  • BBS

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 apperceptive agnosia and bardet-biedl syndrome 2.

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

Genomic Location for BBS2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BBS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BBS2 Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys39, Lys231, Lys345, Lys360, Lys609, Lys659, Lys673, Lys691, and Lys712

Other Protein References for BBS2 Gene

No data available for DME Specific Peptides for BBS2 Gene

Domains for BBS2 Gene

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

No data available for Gene Families and 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.

Gene Ontology (GO) - Molecular Function for BBS2 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 16189514
genes like me logo Genes that share ontologies with BBS2: view
genes like me logo Genes that share phenotypes with BBS2: view

Animal Models for BBS2 Gene

MGI Knock Outs for BBS2:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
plasma membrane 5
cytoskeleton 4
mitochondrion 3
nucleus 1

Gene Ontology (GO) - Cellular Components for BBS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane --
GO:0016020 membrane IBA --
GO:0031514 motile cilium IDA 18299575
genes like me logo Genes that share ontologies with BBS2: view

Pathways for BBS2 Gene

SuperPathways for BBS2 Gene

No Data Available

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 ISS --
GO:0007601 visual perception IEA --
GO:0008104 protein localization ISS --
GO:0010629 negative regulation of gene expression IEA --
genes like me logo Genes that share ontologies with BBS2: view

No data available for Pathways by source for BBS2 Gene

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

Integrated Proteomics: protein expression 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 expressions with BBS2: view

Orthologs for BBS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for BBS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BBS2 36
  • 99.58 (n)
  • 99.72 (a)
BBS2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BBS2 36
  • 89.64 (n)
  • 91.4 (a)
BBS2 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BBS2 36
  • 90.95 (n)
  • 92.79 (a)
BBS2 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bbs2 36
  • 86.87 (n)
  • 90.15 (a)
Bbs2 16
Bbs2 37
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BBS2 37
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 84 (a)
OneToMany
-- 37
  • 70 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Bbs2 36
  • 86.13 (n)
  • 89.88 (a)
chicken
(Gallus gallus)
Aves BBS2 36
  • 72.86 (n)
  • 77.95 (a)
BBS2 37
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BBS2 37
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.14339 36
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493660 36
  • 72.35 (n)
  • 78.64 (a)
Str.13526 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10857 36
zebrafish
(Danio rerio)
Actinopterygii bbs2 36
  • 68.67 (n)
  • 75.07 (a)
bbs2 37
  • 74 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009637 36
  • 47.93 (n)
  • 36.95 (a)
worm
(Caenorhabditis elegans)
Secernentea bbs-2 36
  • 47.07 (n)
  • 35.34 (a)
bbs-2 37
  • 31 (a)
OneToOne
F20D12.3 38
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs11373 - 56,511,263(-) ATGCA(A/G)TTGTG reference, missense
rs15335 -- 56,484,457(+) TTCAA(A/G)AAAAA utr-variant-3-prime, intron-variant
rs918784 -- 56,478,857(+) GTTAC(A/G)TCATC intron-variant
rs1128808 -- 56,500,862(-) GGTTA(A/C)AGAAG stop-gained, reference
rs1469141 -- 56,489,355(+) TTTTT(A/T)AAAAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv833243 CNV Gain 17160897

Relevant External Links for BBS2 Gene

HapMap Linkage Disequilibrium report
BBS2
Human Gene Mutation Database (HGMD)
BBS2
Locus Specific Mutation Databases (LSDB)
BBS2

Disorders for BBS2 Gene

(1) OMIM Diseases for BBS2 Gene (606151)

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:21344540}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(6) Novoseek inferred disease relationships for BBS2 Gene

Disease -log(P) Hits PubMed IDs
bardet-biedl syndrome 95.5 6
polydactyly 87.2 2
heart defects congenital 65.5 1
retinitis pigmentosa 63.9 1
disease transmission 59.9 1

Relevant External Links for BBS2

GeneTests
BBS2
GeneReviews
BBS2
Genetic Association Database (GAD)
BBS2
Human Genome Epidemiology (HuGE) Navigator
BBS2
genes like me logo Genes that share disorders with BBS2: view

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
  2. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. (PMID: 11567139) Katsanis N. … Lupski J.R. (Science 2001) 3 4 23
  3. 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 4 23
  4. Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique. (PMID: 12872256) Hoskins B.E. … Beales P.L. (Hum. Mutat. 2003) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for BBS2 Gene

Sources for BBS2 Gene

Back to Top

Content