{"results":[{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q9BXC9","secondaryAccessions":["Q96CM0","Q96SN9"],"uniProtkbId":"BBS2_HUMAN","entryAudit":{"firstPublicDate":"2002-05-02","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2022-02-23","entryVersion":196,"sequenceVersion":2},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"BBSome complex member BBS2"}},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Bardet-Biedl syndrome 2 protein"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:967"}],"value":"BBS2"}}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17574030"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22072986"}],"value":"The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16327777"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17574030"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18000879"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20080638"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22072986"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33144677"}],"value":"Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts (via C-terminus) with BBS7. Interacts (via coiled coil domain) with MKKS. Interacts with CCDC28B and ALDOB. Interacts with DLEC1 (PubMed:33144677)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q9BXC9","intActId":"EBI-748297"},"interactantTwo":{"uniProtKBAccession":"P05062","geneName":"ALDOB","intActId":"EBI-1045507"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9BXC9","intActId":"EBI-748297"},"interactantTwo":{"uniProtKBAccession":"Q8NFJ9","geneName":"BBS1","intActId":"EBI-1805484"},"numberOfExperiments":10,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9BXC9","intActId":"EBI-748297"},"interactantTwo":{"uniProtKBAccession":"Q6ZW61","geneName":"BBS12","intActId":"EBI-6128352"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9BXC9","intActId":"EBI-748297"},"interactantTwo":{"uniProtKBAccession":"Q8IWZ6","geneName":"BBS7","intActId":"EBI-1806001"},"numberOfExperiments":17,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9BXC9","intActId":"EBI-748297"},"interactantTwo":{"uniProtKBAccession":"Q8IWZ6-2","geneName":"BBS7","intActId":"EBI-20947190"},"numberOfExperiments":6,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9BXC9","intActId":"EBI-748297"},"interactantTwo":{"uniProtKBAccession":"Q3SYG4","geneName":"BBS9","intActId":"EBI-2826852"},"numberOfExperiments":14,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9BXC9","intActId":"EBI-748297"},"interactantTwo":{"uniProtKBAccession":"Q53EP0-3","geneName":"FNDC3B","intActId":"EBI-10242151"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9BXC9","intActId":"EBI-748297"},"interactantTwo":{"uniProtKBAccession":"P52597","geneName":"HNRNPF","intActId":"EBI-352986"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9BXC9","intActId":"EBI-748297"},"interactantTwo":{"uniProtKBAccession":"Q15051","geneName":"IQCB1","intActId":"EBI-2805823"},"numberOfExperiments":8,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9BXC9","intActId":"EBI-748297"},"interactantTwo":{"uniProtKBAccession":"P61968","geneName":"LMO4","intActId":"EBI-2798728"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9BXC9","intActId":"EBI-748297"},"interactantTwo":{"uniProtKBAccession":"Q99750","geneName":"MDFI","intActId":"EBI-724076"},"numberOfExperiments":7,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9BXC9","intActId":"EBI-748297"},"interactantTwo":{"uniProtKBAccession":"Q9NPJ1","geneName":"MKKS","intActId":"EBI-721319"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9BXC9","intActId":"EBI-748297"},"interactantTwo":{"uniProtKBAccession":"Q16656-4","geneName":"NRF1","intActId":"EBI-11742836"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9BXC9","intActId":"EBI-748297"},"interactantTwo":{"uniProtKBAccession":"P61289","geneName":"PSME3","intActId":"EBI-355546"},"numberOfExperiments":7,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9BXC9","intActId":"EBI-748297"},"interactantTwo":{"uniProtKBAccession":"Q93062","geneName":"RBPMS","intActId":"EBI-740322"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"value":"Cell projection, cilium membrane","id":"SL-0305"}},{"location":{"value":"Cytoplasm","id":"SL-0086"}},{"location":{"value":"Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite","id":"SL-0485"}}]},{"texts":[{"value":"Widely expressed"}],"commentType":"TISSUE SPECIFICITY"},{"commentType":"DISEASE","disease":{"diseaseId":"Bardet-Biedl syndrome 2","diseaseAccession":"DI-00160","acronym":"BBS2","description":"A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.","diseaseCrossReference":{"database":"MIM","id":"615981"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11285252"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11567139"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12677556"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12872256"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12920096"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15666242"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16823392"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21344540"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Retinitis pigmentosa 74","diseaseAccession":"DI-04520","acronym":"RP74","description":"A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. 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