HUMAN:BBS2

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Species (Taxon ID)	Homo sapiens (Human). (taxon:9606)
Gene Name(s)	BBS2
Protein Name(s)	Bardet-Biedl syndrome 2 protein
External Links
UniProt Identifier	BBS2_HUMAN
UniProt Accessions	Q9BXC9, Q96CM0, Q96SN9,
EMBL	AF342736, AK027635, BC014140,
RefSeq	NP_114091.3,
IntAct	Q9BXC9,
Ensembl	ENST00000245157,

Annotations

Qualifier	GO ID	GO term name	Reference	Evidence Code	with/from	Aspect	Notes
	GO:0034464	BBSome		IDA: Inferred from Direct Assay		C	Source: BHF-UCL
	GO:0060170	cilium membrane		IEA: Inferred from Electronic Annotation		C	Source: UniProtKB-SubCell
	GO:0005932	microtubule basal body		IDA: Inferred from Direct Assay		C	Source: BHF-UCL
	GO:0031514	motile secondary cilium		IDA: Inferred from Direct Assay		C	Source: BHF-UCL
	GO:0005515	protein binding		IPI: Inferred from Physical Interaction		F	Source: IntAct
	GO:0030534	adult behavior		ISS: Inferred from Sequence or Structural Similarity		P	Source: BHF-UCL
	GO:0048854	brain morphogenesis		ISS: Inferred from Sequence or Structural Similarity		P	Source: BHF-UCL
	GO:0021987	cerebral cortex development		ISS: Inferred from Sequence or Structural Similarity		P	Source: BHF-UCL
	GO:0060271	cilium morphogenesis		ISS: Inferred from Sequence or Structural Similarity		P	Source: BHF-UCL
	GO:0045444	fat cell differentiation		ISS: Inferred from Sequence or Structural Similarity		P	Source: BHF-UCL
	GO:0021766	hippocampus development		ISS: Inferred from Sequence or Structural Similarity		P	Source: BHF-UCL
	GO:0032402	melanosome transport		ISS: Inferred from Sequence or Structural Similarity		P	Source: BHF-UCL
	GO:0040015	negative regulation of multicellular organi...		ISS: Inferred from Sequence or Structural Similarity		P	Source: BHF-UCL
	GO:0045494	photoreceptor cell maintenance		ISS: Inferred from Sequence or Structural Similarity		P	Source: BHF-UCL
	GO:0033365	protein localization in organelle		ISS: Inferred from Sequence or Structural Similarity		P	Source: BHF-UCL
	GO:0060296	regulation of cilium beat frequency involve...		ISS: Inferred from Sequence or Structural Similarity		P	Source: BHF-UCL
	GO:0007288	sperm axoneme assembly		ISS: Inferred from Sequence or Structural Similarity		P	Source: BHF-UCL
	GO:0021756	striatum development		ISS: Inferred from Sequence or Structural Similarity		P	Source: BHF-UCL
	GO:0005515	protein binding	PMID:17574030^[1]	IPI: Inferred from Physical Interaction	UniProtKB:Q3SYG4	F
	GO:0005515	protein binding	PMID:17574030^[1]	IPI: Inferred from Physical Interaction	UniProtKB:Q8IWZ6	F
	GO:0005515	protein binding	PMID:18000879^[2]	IPI: Inferred from Physical Interaction	UniProtKB:P05062	F
	GO:0005515	protein binding	PMID:18000879^[2]	IPI: Inferred from Physical Interaction	UniProtKB:P05062	F
	GO:0005515	protein binding	PMID:18000879^[2]	IPI: Inferred from Physical Interaction	UniProtKB:P68104	F
	GO:0005515	protein binding	PMID:18000879^[2]	IPI: Inferred from Physical Interaction	UniProtKB:P68104	F
	GO:0005515	protein binding	PMID:18000879^[2]	IPI: Inferred from Physical Interaction	UniProtKB:Q15154	F
	GO:0005515	protein binding	PMID:20603001^[3]	IPI: Inferred from Physical Interaction	UniProtKB:P30935	F
	GO:0005737	cytoplasm	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0963	C
	GO:0005737	cytoplasm	GO_REF:0000023	IEA: Inferred from Electronic Annotation	SP_SL:SL-0086	C
	GO:0005886	plasma membrane	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-1003	C
	GO:0005929	cilium	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0969	C
	GO:0005932	microtubule basal body	PMID:18299575^[4]	IDA: Inferred from Direct Assay		C
	GO:0007288	sperm axoneme assembly	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000034206	P
	GO:0007288	sperm axoneme assembly	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:Q9CWF6	P
	GO:0007601	visual perception	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0844	P
	GO:0008104	protein localization	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000034206	P
	GO:0008104	protein localization	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:Q9CWF6	P
	GO:0016020	membrane	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0472	C
	GO:0021756	striatum development	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000034206	P
	GO:0021756	striatum development	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:Q9CWF6	P
	GO:0021766	hippocampus development	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000034206	P
	GO:0021766	hippocampus development	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:Q9CWF6	P
	GO:0021987	cerebral cortex development	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000034206	P
	GO:0021987	cerebral cortex development	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:Q9CWF6	P
	GO:0030534	adult behavior	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000034206	P
	GO:0030534	adult behavior	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:Q9CWF6	P
	GO:0031514	motile cilium	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000034206	C
	GO:0031514	motile cilium	PMID:18299575^[4]	IDA: Inferred from Direct Assay		C
	GO:0032402	melanosome transport	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:Q98SP7	P
	GO:0033365	protein localization to organelle	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000034206	P
	GO:0033365	protein localization to organelle	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:Q9CWF6	P
	GO:0034464	BBSome	PMID:17574030^[1]	IDA: Inferred from Direct Assay		C
	GO:0040015	negative regulation of multicellular organism growth	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000034206	P
	GO:0040015	negative regulation of multicellular organism growth	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:Q9CWF6	P
	GO:0042995	cell projection	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0966	C
	GO:0045444	fat cell differentiation	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000034206	P
	GO:0045444	fat cell differentiation	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:Q9CWF6	P
	GO:0045494	photoreceptor cell maintenance	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000034206	P
	GO:0045494	photoreceptor cell maintenance	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:Q9CWF6	P
	GO:0048854	brain morphogenesis	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000034206	P
	GO:0048854	brain morphogenesis	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:Q9CWF6	P
	GO:0050896	response to stimulus	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0716	P
	GO:0060170	cilium membrane	GO_REF:0000023	IEA: Inferred from Electronic Annotation	SP_SL:SL-0305	C
	GO:0060271	cilium morphogenesis	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000034206	P
	GO:0060271	cilium morphogenesis	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:Q9CWF6	P
	GO:0060296	regulation of cilium beat frequency involved in ciliary motility	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000034206	P
	GO:0060296	regulation of cilium beat frequency involved in ciliary motility	GO_REF:0000024	ISS: Inferred from Sequence or Structural Similarity	UniProtKB:Q9CWF6	P
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Notes

References

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

↑ ^1.0 ^1.1 ^1.2 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
↑ ^2.0 ^2.1 ^2.2 ^2.3 ^2.4 Oeffner F et al. (2008) Novel interaction partners of Bardet-Biedl syndrome proteins. Cell Motil Cytoskeleton 65: 143-55 PubMed GONUTS page
↑ Jin H et al. (2010) The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. Cell 141: 1208-19 PubMed GONUTS page
↑ ^4.0 ^4.1 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:17574030-0] 1.0 ^1.1 ^1.2 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:18000879-1] 2.0 ^2.1 ^2.2 ^2.3 ^2.4 Oeffner F et al. (2008) Novel interaction partners of Bardet-Biedl syndrome proteins. Cell Motil Cytoskeleton 65: 143-55 PubMed GONUTS page

[PMID:20603001-2] Jin H et al. (2010) The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. Cell 141: 1208-19 PubMed GONUTS page

[PMID:18299575-3] 4.0 ^4.1 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

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HUMAN:BBS2

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