Version 5.4
Bos taurus Gene: BT.41087
Summary
InnateDB Gene IDBG-632026.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BT.41087
Gene Name Bardet-Biedl syndrome 2 protein
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000014923
Encoded Proteins
IDBP-683610
Bardet-Biedl syndrome 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000125124:
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 18:24205242-24231176
Strand Forward strand
Band
Transcripts
ENSBTAT00000032389 ENSBTAP00000032322
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 39 interaction(s) predicted by orthology.
Predicted by orthology
Total 39 [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: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: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:0031514 motile cilium
GO:0034464 BBSome
GO:0036064 ciliary basal body
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
ENSG00000125124
View Gene Order
ENSMUSG00000031755
View Gene Order
Cross-References
SwissProt
TrEMBL F1MU26
UniProt Splice Variant
Entrez Gene 533611
UniGene Bt.41087
RefSeq NM_001038160
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL DAAA02046495 DAAA02046496
GenPept
RNA Seq Atlas 533611

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca