BBS2
entrez
583
canonical
uniprot
Q9BXC9
canonical
ensembl
ENSG00000125124
resolver
ensp
ENSP00000245157
resolver
ensp
ENSP00000506965
resolver
ensp
ENSP00000507027
resolver
ensp
ENSP00000507654
resolver
ensp
ENSP00000507699
resolver
ensp
ENSP00000507914
resolver
ensp
ENSP00000508377
resolver
ensp
ENSP00000525019
resolver
enst
ENST00000245157
resolver
enst
ENST00000682047
resolver
enst
ENST00000682205
resolver
enst
ENST00000682348
resolver
enst
ENST00000682470
resolver
enst
ENST00000682855
resolver
enst
ENST00000683644
resolver
enst
ENST00000854960
resolver
genesymbol
BBS2
resolver
hgnc
HGNC:967
resolver
uniprot
A0A804HIE1
resolver
uniprot
A0A804HKG1
resolver
uniprot
Q96CM0
resolver
uniprot
Q96SN9
resolver
uniprot_entry
A0A804HIE1_HUMAN
resolver
uniprot_entry
A0A804HKG1_HUMAN
resolver
uniprot_entry
BBS2_HUMAN
resolver
uniprot_sec
Q96CM0
resolver
uniprot_sec
Q96SN9
resolver
amino_acid_sequence
MLLPVFTLKLRHKISPRMVAIGRYDGTHPCLAAATQTGKVFIHNPHTRNQHVSASRVFQSPLESDVSLLSINQAVSCLTAGVLNPELGYDALLVGTQTNLLAYDVYNNSDLFYREVADGANAIVLGTLGDISSPLAIIGGNCALQGFNHEGSDLFWTVTGDNVNSLALCDFDGDGKKELLVGSEDFDIRVFKEDEIVAEMTETEIVTSLCPMYGSRFGYALSNGTVGVYDKTSRYWRIKSKNHAMSIHAFDLNSDGVNELITGWSNGKVDARSDRTGEVIFKDNFSSAIAGVVEGDYRMDGHIQLICCSVDGEIRGYLPGTAEMRGNLMDTSAEQDLIRELSQKKQNLLLELRNYEENAKAELASPLNEADGHRGIIPANTRLHTTLSVSLGNETQTAHTELRISTSNDTIIRAVLIFAEGIFTGESHVVHPSIHNLSSSICIPIVPPKDVPVDLHLKAFVGYRSSTQFHVFESTRQLPRFSMYALTSLDPASEPISYVNFTIAERAQRVVVWLGQNFLLPEDTHIQNAPFQVCFTSLRNGGHLHIKIKLSGEITINTDDIDLAGDIIQSMASFFAIEDLQVEADFPVYFEELRKVLVKVDEYHSVHQKLSADMADHSNLIRSLLVGAEDARLMRDMKTMKSRYMELYDLNRDLLNGYKIRCNNHTELLGNLKAVNQAIQRAGRLRVGKPKNQVITACRDAIRSNNINTLFKIMRVGTASS
uniprot
proteins
disease_involvement
DISEASE: Bardet-Biedl syndrome 2 (BBS2) [MIM:615981]: 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. {ECO:0000269|PubMed:11285252, ECO:0000269|PubMed:11567139, ECO:0000269|PubMed:12677556, ECO:0000269|PubMed:12872256, ECO:0000269|PubMed:12920096, ECO:0000269|PubMed:15666242, ECO:0000269|PubMed:16823392, ECO:0000269|PubMed:21344540}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Retinitis pigmentosa 74 (RP74) [MIM:616562]: 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. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:25541840}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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. {ECO:0000269|PubMed:17574030, ECO:0000269|PubMed:22072986}.
uniprot
proteins
mass_dalton
79844
uniprot
proteins
pubmed
11285252
uniprot
proteins
pubmed
11567139
uniprot
proteins
pubmed
12677556
uniprot
proteins
pubmed
12872256
uniprot
proteins
pubmed
12920096
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15666242
uniprot
proteins
pubmed
15770229
uniprot
proteins
pubmed
16327777
uniprot
proteins
pubmed
16823392
uniprot
proteins
pubmed
17574030
uniprot
proteins
pubmed
18000879
uniprot
proteins
pubmed
20080638
uniprot
proteins
pubmed
20120035
uniprot
proteins
pubmed
21344540
uniprot
proteins
pubmed
22072986
uniprot
proteins
pubmed
25541840
uniprot
proteins
pubmed
33144677
uniprot
proteins
sequence_length
721
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.
uniprot
proteins