AutismKB 2.0

Annotation Details for BBS5


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Basic Information Top
Gene Symbol:BBS5 ( - )
Gene Full Name: Bardet-Biedl syndrome 5
Band: 2q31.1
Quick LinksEntrez ID:129880; OMIM: 603650; Uniprot ID:BBS5_HUMAN; ENSEMBL ID: ENSG00000163093,ENSG00000251569; HGNC ID: 970
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005622IDA-intracellular-
GO:0005829TAS-cytosol-
GO:0034464IDA-BBSome17574030
GO:0036064IBA-ciliary basal body-
GO:0036064ISS-ciliary basal body-
GO:0060170IEA-ciliary membrane-
GO ID Evidence Qualifier GO_term References
GO:0001103IPI-RNA polymerase II repressing transcription factor binding22302990
GO:0005515IPI-protein binding16327777
GO:0032266IDA-phosphatidylinositol-3-phosphate binding17574030
GO ID Evidence Qualifier GO_term References
GO:0001947ISS-heart looping-
GO:0007601IEA-visual perception-
GO:0015031IEA-protein transport-
GO:0032402ISS-melanosome transport-
GO:0044458ISS-motile cilium assembly-
GO:0046907IBA-intracellular transport-
GO:0050896IEA-response to stimulus-
GO:0060271IMP-cilium assembly17574030
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1919819
  • Data Attributes: HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-040426-1083'