Human Gene BBS2 (ENST00000245157.11) from GENCODE V44
Description: Homo sapiens Bardet-Biedl syndrome 2 (BBS2), transcript variant 1, mRNA. (from RefSeq NM_031885) RefSeq Summary (NM_031885): This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014]. Gencode Transcript: ENST00000245157.11 Gencode Gene: ENSG00000125124.14 Transcript (Including UTRs) Position: hg38 chr16:56,484,385-56,520,024 Size: 35,640 Total Exon Count: 17 Strand: - Coding Region Position: hg38 chr16:56,484,761-56,519,862 Size: 35,102 Coding Exon Count: 17
ID:BBS2_HUMAN DESCRIPTION: RecName: Full=Bardet-Biedl syndrome 2 protein; FUNCTION: 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. SUBUNIT: Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex binds to PCM1 and tubulin. Interacts (via C-terminus) with BBS7. Interacts (via coiled coil domain) with MKKS. Interacts with CCDC28B. INTERACTION: P05062:ALDOB; NbExp=4; IntAct=EBI-748297, EBI-1045507; Q8NFJ9:BBS1; NbExp=6; IntAct=EBI-748297, EBI-1805484; Q8IWZ6:BBS7; NbExp=11; IntAct=EBI-748297, EBI-1806001; Q3SYG4:BBS9; NbExp=9; IntAct=EBI-748297, EBI-2826852; Q9NPJ1:MKKS; NbExp=4; IntAct=EBI-748297, EBI-721319; SUBCELLULAR LOCATION: Cell projection, cilium membrane. Cytoplasm. Note=Localizes to nonmembranous centriolar satellites in the cytoplasm. TISSUE SPECIFICITY: Widely expressed. DISEASE: Defects in BBS2 are the cause of Bardet-Biedl syndrome type 2 (BBS2) [MIM:209900]. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect. WEB RESOURCE: Name=Mutations of the BBS2 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/bbs2mut.htm"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BBS2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9BXC9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.