HUMAN:BBS2

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	BBS2
Protein Name(s)	Bardet-Biedl syndrome 2 protein
External Links
UniProt	Q9BXC9
EMBL	AF342736 AK027635 BC014140
CCDS	CCDS32451.1
RefSeq	NP_114091.3
UniGene	Hs.333738
ProteinModelPortal	Q9BXC9
BioGrid	107059
DIP	DIP-46563N
IntAct	Q9BXC9
MINT	MINT-1454659
STRING	9606.ENSP00000245157
PhosphoSite	Q9BXC9
DMDM	20454827
MaxQB	Q9BXC9
PaxDb	Q9BXC9
PRIDE	Q9BXC9
DNASU	583
Ensembl	ENST00000245157
GeneID	583
KEGG	hsa:583
UCSC	uc002ejd.2
CTD	583
GeneCards	GC16M056500
GeneReviews	BBS2
HGNC	HGNC:967
HPA	HPA041315
MIM	606151 615981
neXtProt	NX_Q9BXC9
Orphanet	110
PharmGKB	PA25276
eggNOG	NOG87621
HOGENOM	HOG000007549
HOVERGEN	HBG031114
InParanoid	Q9BXC9
KO	K16747
PhylomeDB	Q9BXC9
TreeFam	TF313236
ChiTaRS	BBS2
GeneWiki	BBS2
GenomeRNAi	583
NextBio	2387
PRO	PR:Q9BXC9
Proteomes	UP000005640
Bgee	Q9BXC9
CleanEx	HS_BBS2
ExpressionAtlas	Q9BXC9
Genevestigator	Q9BXC9
GO	GO:0034464 GO:0036064 GO:0060170 GO:0005737 GO:0031514 GO:0001103 GO:0030534 GO:0014824 GO:0048854 GO:0051216 GO:0021987 GO:0060271 GO:0045444 GO:0043001 GO:0021766 GO:0032402 GO:0038108 GO:0010629 GO:0040015 GO:0035058 GO:0045494 GO:0040018 GO:0008104 GO:0033365 GO:0060296 GO:0007288 GO:0021756 GO:0042311 GO:0007601
Gene3D	2.130.10.10
InterPro	IPR016616 IPR029333 IPR029429 IPR029430 IPR015943 IPR017986
PANTHER	PTHR32465:SF0
Pfam	PF14782 PF14783 PF14781
PIRSF	PIRSF013684
SUPFAM	SSF50978

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
involved_in	GO:0007601	visual perception	PMID:25541840^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0060296	regulation of cilium beat frequency involved in ciliary motility	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9CWF6	P	Seeded From UniProt	complete
involved_in	GO:0060271	cilium assembly	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9CWF6	P	Seeded From UniProt	complete
involved_in	GO:0048854	brain morphogenesis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9CWF6	P	Seeded From UniProt	complete
involved_in	GO:0045494	photoreceptor cell maintenance	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9CWF6	P	Seeded From UniProt	complete
involved_in	GO:0045444	fat cell differentiation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9CWF6	P	Seeded From UniProt	complete
involved_in	GO:0040015	negative regulation of multicellular organism growth	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9CWF6	P	Seeded From UniProt	complete
involved_in	GO:0038108	negative regulation of appetite by leptin-mediated signaling pathway	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9CWF6	P	Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	PMID:18299575^[2]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0034464	BBSome	PMID:17574030^[3]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0033365	protein localization to organelle	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9CWF6	P	Seeded From UniProt	complete
involved_in	GO:0032402	melanosome transport	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q98SP7	P	Seeded From UniProt	complete
part_of	GO:0031514	motile cilium	PMID:18299575^[2]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0030534	adult behavior	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9CWF6	P	Seeded From UniProt	complete
involved_in	GO:0021987	cerebral cortex development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9CWF6	P	Seeded From UniProt	complete
involved_in	GO:0021766	hippocampus development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9CWF6	P	Seeded From UniProt	complete
involved_in	GO:0021756	striatum development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9CWF6	P	Seeded From UniProt	complete
involved_in	GO:0008104	protein localization	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9CWF6	P	Seeded From UniProt	complete
involved_in	GO:0007288	sperm axoneme assembly	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q9CWF6	P	Seeded From UniProt	complete
part_of	GO:0034464	BBSome	PMID:24550735^[4]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	PMID:21873635^[5]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000795297 UniProtKB:Q9BXC9 WB:WBGene00000242	C	Seeded From UniProt	complete
part_of	GO:0034464	BBSome	PMID:21873635^[5]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:2135267 PANTHER:PTN000795297 UniProtKB:Q9BXC9	C	Seeded From UniProt	complete
part_of	GO:0031514	motile cilium	PMID:21873635^[5]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:2135267 PANTHER:PTN000795297 UniProtKB:Q9BXC9	C	Seeded From UniProt	complete
part_of	GO:0016020	membrane	PMID:21873635^[5]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:2135267 PANTHER:PTN000795297	C	Seeded From UniProt	complete
involved_in	GO:0043001	Golgi to plasma membrane protein transport	PMID:19150989^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
enables	GO:0001103	RNA polymerase II repressing transcription factor binding	PMID:22302990^[7]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q99496	F	Seeded From UniProt	complete
involved_in	GO:1905515	non-motile cilium assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	P	Seeded From UniProt	complete
involved_in	GO:0060296	regulation of cilium beat frequency involved in ciliary motility	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	P	Seeded From UniProt	complete
involved_in	GO:0060271	cilium assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	P	Seeded From UniProt	complete
involved_in	GO:0051216	cartilage development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	P	Seeded From UniProt	complete
involved_in	GO:0048854	brain morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	P	Seeded From UniProt	complete
involved_in	GO:0045494	photoreceptor cell maintenance	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	P	Seeded From UniProt	complete
involved_in	GO:0045444	fat cell differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	P	Seeded From UniProt	complete
involved_in	GO:0044321	response to leptin	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	P	Seeded From UniProt	complete
involved_in	GO:0042311	vasodilation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	P	Seeded From UniProt	complete
involved_in	GO:0040018	positive regulation of multicellular organism growth	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	P	Seeded From UniProt	complete
involved_in	GO:0040015	negative regulation of multicellular organism growth	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	P	Seeded From UniProt	complete
involved_in	GO:0038108	negative regulation of appetite by leptin-mediated signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	P	Seeded From UniProt	complete
part_of	GO:0034464	BBSome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	C	Seeded From UniProt	complete
involved_in	GO:0033365	protein localization to organelle	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	P	Seeded From UniProt	complete
involved_in	GO:0033210	leptin-mediated signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	P	Seeded From UniProt	complete
part_of	GO:0032420	stereocilium	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	C	Seeded From UniProt	complete
part_of	GO:0031514	motile cilium	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	C	Seeded From UniProt	complete
involved_in	GO:0030534	adult behavior	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	P	Seeded From UniProt	complete
involved_in	GO:0021987	cerebral cortex development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	P	Seeded From UniProt	complete
involved_in	GO:0021766	hippocampus development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	P	Seeded From UniProt	complete
involved_in	GO:0021756	striatum development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	P	Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	C	Seeded From UniProt	complete
involved_in	GO:0014824	artery smooth muscle contraction	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	P	Seeded From UniProt	complete
involved_in	GO:0010629	negative regulation of gene expression	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	P	Seeded From UniProt	complete
involved_in	GO:0008104	protein localization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	P	Seeded From UniProt	complete
involved_in	GO:0007288	sperm axoneme assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	P	Seeded From UniProt	complete
part_of	GO:0005902	microvillus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9CWF6 ensembl:ENSMUSP00000034206	C	Seeded From UniProt	complete
part_of	GO:0034464	BBSome	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR016616	C	Seeded From UniProt	complete
involved_in	GO:1905515	non-motile cilium assembly	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR016616	P	Seeded From UniProt	complete
part_of	GO:0005829	cytosol	Reactome:R-HSA-5624129 Reactome:R-HSA-5624127 Reactome:R-HSA-5624126 Reactome:R-HSA-5624125 Reactome:R-HSA-5617815	ECO:0000304	author statement supported by traceable reference used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005856	cytoskeleton	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0206	C	Seeded From UniProt	complete
involved_in	GO:0050896	response to stimulus	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0716	P	Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963 UniProtKB-SubCell:SL-0086	C	Seeded From UniProt	complete
part_of	GO:0005929	cilium	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0969	C	Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C	Seeded From UniProt	complete
involved_in	GO:0030030	cell projection organization	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0970	P	Seeded From UniProt	complete
involved_in	GO:0007601	visual perception	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0844	P	Seeded From UniProt	complete
involved_in	GO:0015031	protein transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0653	P	Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-1003	C	Seeded From UniProt	complete
part_of	GO:0042995	cell projection	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0966	C	Seeded From UniProt	complete
part_of	GO:0005815	microtubule organizing center	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0048	C	Seeded From UniProt	complete
part_of	GO:0060170	ciliary membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0305	C	Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ Shevach, E et al. (2015) Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. JAMA Ophthalmol 133 312-8 PubMed GONUTS page
↑ ^2.0 ^2.1 Shah, AS et al. (2008) Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia. Proc. Natl. Acad. Sci. U.S.A. 105 3380-5 PubMed GONUTS page
↑ Nachury, MV et al. (2007) A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell 129 1201-13 PubMed GONUTS page
↑ Chamling, X et al. (2014) The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. PLoS Genet. 10 e1004083 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 ^5.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ Seo, S et al. (2009) Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling. Hum. Mol. Genet. 18 1323-31 PubMed GONUTS page
↑ Gascue, C et al. (2012) Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation. J. Cell. Sci. 125 362-75 PubMed GONUTS page

[PMID:25541840-1] Shevach, E et al. (2015) Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. JAMA Ophthalmol 133 312-8 PubMed GONUTS page

[PMID:18299575-2] 2.0 ^2.1 Shah, AS et al. (2008) Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia. Proc. Natl. Acad. Sci. U.S.A. 105 3380-5 PubMed GONUTS page

[PMID:17574030-3] Nachury, MV et al. (2007) A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell 129 1201-13 PubMed GONUTS page

[PMID:24550735-4] Chamling, X et al. (2014) The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. PLoS Genet. 10 e1004083 PubMed GONUTS page

[PMID:21873635-5] 5.0 ^5.1 ^5.2 ^5.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:19150989-6] Seo, S et al. (2009) Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling. Hum. Mol. Genet. 18 1323-31 PubMed GONUTS page

[PMID:22302990-7] Gascue, C et al. (2012) Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation. J. Cell. Sci. 125 362-75 PubMed GONUTS page

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HUMAN:BBS2

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Notes

References

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