Gene Symbol:	BBS7 ( BBS2L1,FLJ10715 )
Gene Full Name:	Bardet-Biedl syndrome 7
Band:	4q27
Quick Links	Entrez ID:55212; OMIM: 607590; Uniprot ID:BBS7_HUMAN; ENSEMBL ID: ENSG00000138686; HGNC ID: 18758
Relate to Another Database:	SFARIGene; denovo-db

GO ID	Evidence	Qualifier	GO_term	References
GO:0001750	IEA	-	photoreceptor outer segment	-
GO:0005634	IEA	-	nucleus	-
GO:0005813	IDA	-	centrosome	21399614
GO:0005829	TAS	-	cytosol	-
GO:0005930	IBA	-	axoneme	-
GO:0016020	IBA	-	membrane	-
GO:0034464	IDA	-	BBSome	17574030
GO:0036064	IBA	-	ciliary basal body	-
GO:0060170	IEA	-	ciliary membrane	-

GO ID	Evidence	Qualifier	GO_term	References
GO:0001103	IPI	-	RNA polymerase II repressing transcription factor binding	22302990
GO:0005515	IPI	-	protein binding	16327777

GO ID	Evidence	Qualifier	GO_term	References
GO:0001654	IEA	-	eye development	-
GO:0001947	ISS	-	heart looping	-
GO:0006357	IPI	-	regulation of transcription from RNA polymerase II promoter	22302990
GO:0007224	IEA	-	smoothened signaling pathway	-
GO:0007368	ISS	-	determination of left/right symmetry	-
GO:0007420	IEA	-	brain development	-
GO:0007601	IEA	-	visual perception	-
GO:0008104	IBA	-	protein localization	-
GO:0015031	IEA	-	protein transport	-
GO:0032402	ISS	-	melanosome transport	-
GO:0032436	IPI	-	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	22302990
GO:0045444	ISS	-	fat cell differentiation	-
GO:0046907	IBA	-	intracellular transport	-
GO:0048546	ISS	-	digestive tract morphogenesis	-
GO:0051877	ISS	-	pigment granule aggregation in cell center	-
GO:0060021	IEA	-	palate development	-
GO:0060173	IEA	-	limb development	-
GO:0060271	IBA	-	cilium assembly	-
GO:0060271	ISS	-	cilium assembly	-
GO:1905515	IEA	-	non-motile cilium assembly	-

AutismKB 2.0

Annotation Details for BBS7