Version 5.4
Mus musculus Gene: Bbs12
Summary
InnateDB Gene IDBG-140380.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Bbs12
Gene Name Bardet-Biedl syndrome 12 (human)
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000051444
Encoded Proteins
IDBP-140382
Bardet-Biedl syndrome 12 (human)
IDBP-265203
Bardet-Biedl syndrome 12 (human)
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 ENSG00000181004:
The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:37312554-37321453
Strand Forward strand
Band B
Transcripts
ENSMUST00000057975 ENSMUSP00000052179
ENSMUST00000108121 ENSMUSP00000103756
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 0
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 12 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0005515 protein binding
GO:0005524 ATP binding
Biological Process
GO:0042073 intraciliary transport
GO:0042755 eating behavior
GO:0044267 cellular protein metabolic process
GO:0045494 photoreceptor cell maintenance
GO:0045599 negative regulation of fat cell differentiation
GO:0051131 chaperone-mediated protein complex assembly
Cellular Component
GO:0005929 cilium
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000181004
View Gene Order
ENSBTAG00000007564
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.32171 Mm.413870
RefSeq NM_001008502 NM_001255992 XM_006502591 XM_006502592 XM_006502593 XM_006502598 XM_006502599 XM_006502600 XM_006535478 XM_006535479 XM_006535480
OMIM
CCDS CCDS38417 CCDS57209
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas

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