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 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:56,484,385-56,520,024)mRNA (may differ from genome)Protein (721 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  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";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: BBS2
Diseases sorted by gene-association score: bardet-biedl syndrome 2* (1269), retinitis pigmentosa 74* (1230), bardet-biedl syndrome* (687), bbs2-related retinitis pigmentosa* (500), bardet-biedl syndrome 1* (208), bardet-biedl syndrome 11* (115), bardet-biedl syndrome 12* (111), bardet-biedl syndrome 10* (111), bbs2-related bardet-biedl syndrome* (100), retinitis pigmentosa* (53), polydactyly (21), apperceptive agnosia (16), bardet-biedl syndrome 3 (13), associative agnosia (11), nonsyndromic retinitis pigmentosa (10), bardet-biedl syndrome 6 (9), mckusick-kaufman syndrome (9), bardet-biedl syndrome 8 (8), bardet-biedl syndrome 19 (8), bardet-biedl syndrome 5 (8), brown-sequard syndrome (7), bardet-biedl syndrome 17 (6), bardet-biedl syndrome 14 (6), obesity (6), bardet-biedl syndrome 15 (5), bardet-biedl syndrome 4 (5), myasthenic syndrome, congenital, 6, presynaptic (5), bardet-biedl syndrome 18 (5), alstrom syndrome (4), heart disease (4), hydrolethalus syndrome (4), bardet-biedl syndrome 13 (3), tetralogy of fallot (1), fundus dystrophy (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 46.51 RPKM in Nerve - Tibial
Total median expression: 981.49 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -74.00162-0.457 Picture PostScript Text
3' UTR -77.60376-0.206 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016616 - Bardet-Biedl_syndrome_2_prot
IPR015943 - WD40/YVTN_repeat-like_dom
IPR017986 - WD40_repeat_dom

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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl WormBase 
Protein SequenceProtein SequenceProtein Sequence Protein Sequence 
AlignmentAlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001103 RNA polymerase II repressing transcription factor binding
GO:0005515 protein binding

Biological Process:
GO:0007288 sperm axoneme assembly
GO:0007601 visual perception
GO:0008104 protein localization
GO:0010629 negative regulation of gene expression
GO:0014824 artery smooth muscle contraction
GO:0015031 protein transport
GO:0021756 striatum development
GO:0021766 hippocampus development
GO:0021987 cerebral cortex development
GO:0030030 cell projection organization
GO:0030534 adult behavior
GO:0032402 melanosome transport
GO:0033210 leptin-mediated signaling pathway
GO:0033365 protein localization to organelle
GO:0038108 negative regulation of appetite by leptin-mediated signaling pathway
GO:0040015 negative regulation of multicellular organism growth
GO:0040018 positive regulation of multicellular organism growth
GO:0042311 vasodilation
GO:0043001 Golgi to plasma membrane protein transport
GO:0044321 response to leptin
GO:0045444 fat cell differentiation
GO:0045494 photoreceptor cell maintenance
GO:0048854 brain morphogenesis
GO:0050896 response to stimulus
GO:0051216 cartilage development
GO:0060271 cilium assembly
GO:0060296 regulation of cilium beat frequency involved in ciliary motility
GO:1903441 protein localization to ciliary membrane
GO:1905515 non-motile cilium assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005902 microvillus
GO:0005929 cilium
GO:0016020 membrane
GO:0031514 motile cilium
GO:0032420 stereocilium
GO:0034464 BBSome
GO:0036064 ciliary basal body
GO:0042995 cell projection
GO:0060170 ciliary membrane


-  Descriptions from all associated GenBank mRNAs
  LF384425 - JP 2014500723-A/191928: Polycomb-Associated Non-Coding RNAs.
MA620002 - JP 2018138019-A/191928: Polycomb-Associated Non-Coding RNAs.
AL834176 - Homo sapiens mRNA; cDNA DKFZp434I052 (from clone DKFZp434I052).
AK127290 - Homo sapiens cDNA FLJ45357 fis, clone BRHIP3012997.
AK027635 - Homo sapiens cDNA FLJ14729 fis, clone NT2RP3001896.
AB208905 - Homo sapiens mRNA for Bardet-Biedl syndrome 2 protein variant protein.
AF342736 - Homo sapiens BBS2 (BBS2) mRNA, complete cds.
BC014140 - Homo sapiens Bardet-Biedl syndrome 2, mRNA (cDNA clone MGC:20703 IMAGE:4653315), complete cds.
AK289604 - Homo sapiens cDNA FLJ76700 complete cds, highly similar to Homo sapiens BBS2 mRNA.
DQ892680 - Synthetic construct clone IMAGE:100005310; FLH188802.01X; RZPDo839G0373D Bardet-Biedl syndrome 2 (BBS2) gene, encodes complete protein.
DQ895923 - Synthetic construct Homo sapiens clone IMAGE:100010383; FLH188798.01L; RZPDo839G0363D Bardet-Biedl syndrome 2 (BBS2) gene, encodes complete protein.
AB527821 - Synthetic construct DNA, clone: pF1KB5714, Homo sapiens BBS2 gene for Bardet-Biedl syndrome 2, without stop codon, in Flexi system.
JD240654 - Sequence 221678 from Patent EP1572962.
JD051081 - Sequence 32105 from Patent EP1572962.
JD055877 - Sequence 36901 from Patent EP1572962.
JD347169 - Sequence 328193 from Patent EP1572962.
LF373652 - JP 2014500723-A/181155: Polycomb-Associated Non-Coding RNAs.
MA609229 - JP 2018138019-A/181155: Polycomb-Associated Non-Coding RNAs.
AK309068 - Homo sapiens cDNA, FLJ99109.
LF373655 - JP 2014500723-A/181158: Polycomb-Associated Non-Coding RNAs.
MA609232 - JP 2018138019-A/181158: Polycomb-Associated Non-Coding RNAs.
JD385845 - Sequence 366869 from Patent EP1572962.
JD397657 - Sequence 378681 from Patent EP1572962.
JD547934 - Sequence 528958 from Patent EP1572962.
JD200537 - Sequence 181561 from Patent EP1572962.
JD464590 - Sequence 445614 from Patent EP1572962.
JD216846 - Sequence 197870 from Patent EP1572962.
JD520566 - Sequence 501590 from Patent EP1572962.
JD500603 - Sequence 481627 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9BXC9 (Reactome details) participates in the following event(s):

R-HSA-5624125 Formation of the BBSome
R-HSA-5617815 BBSome binds RAB3IP
R-HSA-5624126 ARL6:GTP and the BBSome bind ciliary cargo
R-HSA-5624129 LZTFL1 binds the BBSome and prevents its traffic to the cilium
R-HSA-5620922 BBSome-mediated cargo-targeting to cilium
R-HSA-5620920 Cargo trafficking to the periciliary membrane
R-HSA-5617833 Cilium Assembly
R-HSA-1852241 Organelle biogenesis and maintenance

-  Other Names for This Gene
  Alternate Gene Symbols: BBS2_HUMAN, ENST00000245157.1, ENST00000245157.10, ENST00000245157.2, ENST00000245157.3, ENST00000245157.4, ENST00000245157.5, ENST00000245157.6, ENST00000245157.7, ENST00000245157.8, ENST00000245157.9, NM_031885, Q96CM0, Q96SN9, Q9BXC9, uc002ejd.1, uc002ejd.2, uc002ejd.3, uc002ejd.4, uc002ejd.5
UCSC ID: ENST00000245157.11
RefSeq Accession: NM_031885
Protein: Q9BXC9 (aka BBS2_HUMAN)
CCDS: CCDS32451.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene BBS2:
rp-overview (Nonsyndromic Retinitis Pigmentosa Overview)
bbs (Bardet-Biedl Syndrome Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.