InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Bbs2

Summary

InnateDB Gene

IDBG-181517.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Bbs2

Gene Name

Bardet-Biedl syndrome 2 (human)

Synonyms

2410125H22Rik; AI447581

Species

Mus musculus

Ensembl Gene

ENSMUSG00000031755

Encoded Proteins

IDBP-181519

Bardet-Biedl syndrome 2 (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 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 8:94067954-94098811

Strand

Reverse strand

Band

Transcripts

ENSMUST00000034206	ENSMUSP00000034206
ENSMUST00000170208
ENSMUST00000172347

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
They are also associated with 32 interaction(s) predicted by orthology.

Experimentally validated
Total	13 [view]
Protein-Protein	13 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	32 [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:0005737	cytoplasm
GO:0031514	motile cilium
GO:0034464	BBSome
GO:0036064	ciliary basal body
GO:0060170	ciliary membrane

Orthologs

Species

Homo sapiens

Bos taurus

Gene ID

Gene Order

ENSG00000125124

View Gene Order

ENSBTAG00000014923

Not yet available

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Mm.292107

RefSeq

NM_026116

OMIM

CCDS

CCDS40434

HPRD

IMGT

MGI ID

MGI Symbol

EMBL

GenPept

RNA Seq Atlas