Homo sapiens Gene: BBS9
Summary
InnateDB Gene IDBG-11848.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BBS9
Gene Name Bardet-Biedl syndrome 9
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000122507
Encoded Proteins
Bardet-Biedl syndrome 9
Bardet-Biedl syndrome 9
Bardet-Biedl syndrome 9
Bardet-Biedl syndrome 9
Bardet-Biedl syndrome 9
Bardet-Biedl syndrome 9
Bardet-Biedl syndrome 9
Bardet-Biedl syndrome 9
Bardet-Biedl syndrome 9
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:33129244-33606068
Strand Forward strand
Band p14.3
Transcripts
ENST00000242067 ENSP00000242067
ENST00000355070 ENSP00000347182
ENST00000350941 ENSP00000313122
ENST00000396127 ENSP00000379433
ENST00000432983 ENSP00000415794
ENST00000425508 ENSP00000405151
ENST00000433714 ENSP00000412159
ENST00000442858 ENSP00000388646
ENST00000434373 ENSP00000388114
ENST00000465037
ENST00000482941
ENST00000496029
ENST00000495426
ENST00000489708
ENST00000498189
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated
Total 11 [view]
Protein-Protein 11 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0005515 protein binding
Biological Process
GO:0007601 visual perception
GO:0015031 protein transport
GO:0030030 cell projection organization
GO:0042384 cilium assembly
GO:0045444 fat cell differentiation
GO:0050896 response to stimulus
Cellular Component
GO:0005737 cytoplasm
GO:0005815 microtubule organizing center
GO:0005929 cilium
GO:0034464 BBSome
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
UniGene Hs.372360
RefSeq NM_001033604 NM_001033605 NM_014451 NM_198428 XM_005249700 XM_006715687 XM_006715688
HUGO
OMIM
CCDS CCDS34618 CCDS43566 CCDS47572 CCDS5441
HPRD 16262
IMGT
EMBL
GenPept
RNA Seq Atlas