Homo sapiens Gene: BBS2
Summary
InnateDB Gene IDBG-32014.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BBS2
Gene Name Bardet-Biedl syndrome 2
Synonyms BBS;
Species Homo sapiens
Ensembl Gene ENSG00000125124
Encoded Proteins
Bardet-Biedl syndrome 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 six other BBS proteins.[provided by RefSeq, Jan 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:56466836-56520283
Strand Reverse strand
Band q13
Transcripts
ENST00000245157 ENSP00000245157
ENST00000569342
ENST00000566410
ENST00000565378
ENST00000561853
ENST00000569941 ENSP00000456741
ENST00000562813
ENST00000562012 ENSP00000455651
ENST00000561951
ENST00000566495
ENST00000566210
ENST00000568104 ENSP00000456289
ENST00000565859
ENST00000566689
ENST00000569192
ENST00000565781
ENST00000564123 ENSP00000463176
ENST00000562059
ENST00000561877 ENSP00000454986
ENST00000566452
ENST00000564459 ENSP00000463731
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Experimentally validated
Total 29 [view]
Protein-Protein 29 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 7 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001103 RNA polymerase II repressing transcription factor binding
GO:0005515 protein binding
Biological Process
GO:0007288 sperm axoneme assembly
GO:0007601 visual perception
GO:0008104 protein localization
GO:0010629 negative regulation of gene expression
GO:0014824 artery smooth muscle contraction
GO:0021756 striatum development
GO:0021766 hippocampus development
GO:0021987 cerebral cortex development
GO:0030534 adult behavior
GO:0032402 melanosome transport
GO:0033210 leptin-mediated signaling pathway
GO:0033365 protein localization to organelle
GO:0035058 nonmotile primary cilium assembly
GO:0038108 negative regulation of appetite by leptin-mediated signaling pathway
GO:0040015 negative regulation of multicellular organism growth
GO:0040018 positive regulation of multicellular organism growth
GO:0042311 vasodilation
GO:0042384 cilium assembly
GO:0043001 Golgi to plasma membrane protein transport
GO:0044321 response to leptin
GO:0045444 fat cell differentiation
GO:0045494 photoreceptor cell maintenance
GO:0048854 brain morphogenesis
GO:0051216 cartilage development
GO:0060271 cilium morphogenesis
GO:0060296 regulation of cilium beat frequency involved in ciliary motility
Cellular Component
GO:0005737 cytoplasm
GO:0031514 motile cilium
GO:0034464 BBSome
GO:0036064 ciliary basal body
GO:0060170 ciliary membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 583
UniGene Hs.333738 Hs.616713 Hs.732699
RefSeq NM_031885 XM_005256080
HUGO HGNC:967
OMIM 606151
CCDS CCDS32451
HPRD 05855
IMGT
EMBL
GenPept
RNA Seq Atlas 102724038 583