Q9BXC9 · BBS2_HUMAN
- ProteinBBSome complex member BBS2
- GeneBBS2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids721 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
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.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Biological process
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameBBSome complex member BBS2
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9BXC9
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Bardet-Biedl syndrome 2 (BBS2)
- Note
- DescriptionA 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.
- See alsoMIM:615981
Natural variants in BBS2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_038889 | 23 | R>P | in BBS2 | |
VAR_013163 | 75 | V>G | in BBS2; in linkage disequilibrium with V-123 in a Bedouin kindred; dbSNP:rs121908174 | |
VAR_066280 | 81 | G>C | in BBS2; dbSNP:rs750506474 | |
VAR_013164 | 104 | D>A | in BBS2 and RP74; dbSNP:rs121908179 | |
VAR_066281 | 125 | L>R | in BBS2 | |
VAR_066282 | 136 | A>P | in BBS2 | |
VAR_075728 | 139 | G>V | in BBS2; dbSNP:rs121908181 | |
VAR_038890 | 174 | D>E | in BBS2; dbSNP:rs767373822 | |
VAR_066283 | 307 | C>W | in BBS2 | |
VAR_013166 | 315 | R>Q | in BBS2; dbSNP:rs544773389 | |
VAR_013167 | 315 | R>W | in BBS2; dbSNP:rs121908178 | |
VAR_066284 | 317 | Y>C | in BBS2; dbSNP:rs1597016660 | |
VAR_038891 | 349 | L>W | in BBS2; has a modifier effect on BBS; dbSNP:rs752280639 | |
VAR_013168 | 558 | T>I | in BBS2; dbSNP:rs370581600 | |
VAR_013169 | 632 | R>P | in BBS2 and RP74; dbSNP:rs138043021 | |
VAR_038892 | 643 | R>H | in BBS2; dbSNP:rs532361142 |
Retinitis pigmentosa 74 (RP74)
- Note
- DescriptionA 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.
- See alsoMIM:616562
Natural variants in RP74
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_075726 | 33 | A>D | in RP74; dbSNP:rs797045155 | |
VAR_013164 | 104 | D>A | in BBS2 and RP74; dbSNP:rs121908179 | |
VAR_075727 | 134 | P>R | in RP74; dbSNP:rs376306240 | |
VAR_013169 | 632 | R>P | in BBS2 and RP74; dbSNP:rs138043021 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_038889 | 23 | in BBS2 | |||
Sequence: R → P | ||||||
Natural variant | VAR_075726 | 33 | in RP74; dbSNP:rs797045155 | |||
Sequence: A → D | ||||||
Natural variant | VAR_013162 | 70 | in dbSNP:rs4784677 | |||
Sequence: S → N | ||||||
Natural variant | VAR_013163 | 75 | in BBS2; in linkage disequilibrium with V-123 in a Bedouin kindred; dbSNP:rs121908174 | |||
Sequence: V → G | ||||||
Natural variant | VAR_066280 | 81 | in BBS2; dbSNP:rs750506474 | |||
Sequence: G → C | ||||||
Natural variant | VAR_013164 | 104 | in BBS2 and RP74; dbSNP:rs121908179 | |||
Sequence: D → A | ||||||
Natural variant | VAR_029747 | 122 | in dbSNP:rs17856449 | |||
Sequence: A → V | ||||||
Natural variant | VAR_013165 | 123 | in dbSNP:rs11373 | |||
Sequence: I → V | ||||||
Natural variant | VAR_066281 | 125 | in BBS2 | |||
Sequence: L → R | ||||||
Natural variant | VAR_075727 | 134 | in RP74; dbSNP:rs376306240 | |||
Sequence: P → R | ||||||
Natural variant | VAR_066282 | 136 | in BBS2 | |||
Sequence: A → P | ||||||
Natural variant | VAR_075728 | 139 | in BBS2; dbSNP:rs121908181 | |||
Sequence: G → V | ||||||
Natural variant | VAR_038890 | 174 | in BBS2; dbSNP:rs767373822 | |||
Sequence: D → E | ||||||
Natural variant | VAR_066283 | 307 | in BBS2 | |||
Sequence: C → W | ||||||
Natural variant | VAR_013166 | 315 | in BBS2; dbSNP:rs544773389 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_013167 | 315 | in BBS2; dbSNP:rs121908178 | |||
Sequence: R → W | ||||||
Natural variant | VAR_066284 | 317 | in BBS2; dbSNP:rs1597016660 | |||
Sequence: Y → C | ||||||
Natural variant | VAR_038891 | 349 | in BBS2; has a modifier effect on BBS; dbSNP:rs752280639 | |||
Sequence: L → W | ||||||
Natural variant | VAR_029748 | 504 | in dbSNP:rs16957538 | |||
Sequence: A → V | ||||||
Natural variant | VAR_013168 | 558 | in BBS2; dbSNP:rs370581600 | |||
Sequence: T → I | ||||||
Natural variant | VAR_066285 | 629 | in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS10; uncertain significance; dbSNP:rs746505864 | |||
Sequence: E → K | ||||||
Natural variant | VAR_013169 | 632 | in BBS2 and RP74; dbSNP:rs138043021 | |||
Sequence: R → P | ||||||
Natural variant | VAR_038892 | 643 | in BBS2; dbSNP:rs532361142 | |||
Sequence: R → H |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 881 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000064843 | 1-721 | UniProt | BBSome complex member BBS2 | |||
Sequence: MLLPVFTLKLRHKISPRMVAIGRYDGTHPCLAAATQTGKVFIHNPHTRNQHVSASRVFQSPLESDVSLLSINQAVSCLTAGVLNPELGYDALLVGTQTNLLAYDVYNNSDLFYREVADGANAIVLGTLGDISSPLAIIGGNCALQGFNHEGSDLFWTVTGDNVNSLALCDFDGDGKKELLVGSEDFDIRVFKEDEIVAEMTETEIVTSLCPMYGSRFGYALSNGTVGVYDKTSRYWRIKSKNHAMSIHAFDLNSDGVNELITGWSNGKVDARSDRTGEVIFKDNFSSAIAGVVEGDYRMDGHIQLICCSVDGEIRGYLPGTAEMRGNLMDTSAEQDLIRELSQKKQNLLLELRNYEENAKAELASPLNEADGHRGIIPANTRLHTTLSVSLGNETQTAHTELRISTSNDTIIRAVLIFAEGIFTGESHVVHPSIHNLSSSICIPIVPPKDVPVDLHLKAFVGYRSSTQFHVFESTRQLPRFSMYALTSLDPASEPISYVNFTIAERAQRVVVWLGQNFLLPEDTHIQNAPFQVCFTSLRNGGHLHIKIKLSGEITINTDDIDLAGDIIQSMASFFAIEDLQVEADFPVYFEELRKVLVKVDEYHSVHQKLSADMADHSNLIRSLLVGAEDARLMRDMKTMKSRYMELYDLNRDLLNGYKIRCNNHTELLGNLKAVNQAIQRAGRLRVGKPKNQVITACRDAIRSNNINTLFKIMRVGTASS | |||||||
Modified residue (large scale data) | 365 | PRIDE | Phosphoserine | ||||
Sequence: S |
Proteomic databases
PTM databases
Expression
Tissue specificity
Widely expressed.
Gene expression databases
Organism-specific databases
Interaction
Subunit
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).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q9BXC9 | ALDOB P05062 | 4 | EBI-748297, EBI-1045507 | |
BINARY | Q9BXC9 | BBS1 Q8NFJ9 | 9 | EBI-748297, EBI-1805484 | |
BINARY | Q9BXC9 | BBS12 Q6ZW61 | 2 | EBI-748297, EBI-6128352 | |
BINARY | Q9BXC9 | BBS7 Q8IWZ6 | 16 | EBI-748297, EBI-1806001 | |
BINARY | Q9BXC9 | BBS7 Q8IWZ6-2 | 6 | EBI-748297, EBI-20947190 | |
BINARY | Q9BXC9 | BBS9 Q3SYG4 | 14 | EBI-748297, EBI-2826852 | |
BINARY | Q9BXC9 | FNDC3B Q53EP0-3 | 3 | EBI-748297, EBI-10242151 | |
BINARY | Q9BXC9 | HNRNPF P52597 | 3 | EBI-748297, EBI-352986 | |
BINARY | Q9BXC9 | IQCB1 Q15051 | 8 | EBI-748297, EBI-2805823 | |
BINARY | Q9BXC9 | LMO4 P61968 | 3 | EBI-748297, EBI-2798728 | |
BINARY | Q9BXC9 | MDFI Q99750 | 7 | EBI-748297, EBI-724076 | |
BINARY | Q9BXC9 | MKKS Q9NPJ1 | 3 | EBI-748297, EBI-721319 | |
BINARY | Q9BXC9 | NRF1 Q16656-4 | 3 | EBI-748297, EBI-11742836 | |
BINARY | Q9BXC9 | PSME3 P61289 | 7 | EBI-748297, EBI-355546 | |
BINARY | Q9BXC9 | RBPMS Q93062 | 3 | EBI-748297, EBI-740322 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Sequence
- Sequence statusComplete
- Length721
- Mass (Da)79,844
- Last updated2022-02-23 v2
- ChecksumEF97CAA28709A089
Computationally mapped potential isoform sequences
There are 27 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
H3BRL0 | H3BRL0_HUMAN | BBS2 | 675 | ||
H3BQ79 | H3BQ79_HUMAN | BBS2 | 49 | ||
H3BNS7 | H3BNS7_HUMAN | BBS2 | 121 | ||
A0A804HHV5 | A0A804HHV5_HUMAN | BBS2 | 509 | ||
A0A804HI33 | A0A804HI33_HUMAN | BBS2 | 522 | ||
A0A804HJ30 | A0A804HJ30_HUMAN | BBS2 | 686 | ||
A0A804HIQ9 | A0A804HIQ9_HUMAN | BBS2 | 158 | ||
A0A804HIZ8 | A0A804HIZ8_HUMAN | BBS2 | 264 | ||
A0A804HIK5 | A0A804HIK5_HUMAN | BBS2 | 460 | ||
A0A804HIE0 | A0A804HIE0_HUMAN | BBS2 | 237 | ||
A0A804HIE1 | A0A804HIE1_HUMAN | BBS2 | 721 | ||
A0A804HLC6 | A0A804HLC6_HUMAN | BBS2 | 38 | ||
A0A804HLD7 | A0A804HLD7_HUMAN | BBS2 | 162 | ||
A0A804HLF5 | A0A804HLF5_HUMAN | BBS2 | 198 | ||
A0A804HLL2 | A0A804HLL2_HUMAN | BBS2 | 243 | ||
A0A804HK50 | A0A804HK50_HUMAN | BBS2 | 659 | ||
A0A804HK51 | A0A804HK51_HUMAN | BBS2 | 312 | ||
A0A804HJQ5 | A0A804HJQ5_HUMAN | BBS2 | 645 | ||
A0A804HK25 | A0A804HK25_HUMAN | BBS2 | 510 | ||
A0A804HJV0 | A0A804HJV0_HUMAN | BBS2 | 736 | ||
A0A804HJV2 | A0A804HJV2_HUMAN | BBS2 | 705 | ||
A0A804HK97 | A0A804HK97_HUMAN | BBS2 | 367 | ||
A0A804HKF2 | A0A804HKF2_HUMAN | BBS2 | 679 | ||
A0A804HKG1 | A0A804HKG1_HUMAN | BBS2 | 361 | ||
A0A804HKL9 | A0A804HKL9_HUMAN | BBS2 | 696 | ||
A0A804HKI7 | A0A804HKI7_HUMAN | BBS2 | 428 | ||
A0A804F8L3 | A0A804F8L3_HUMAN | BBS2 | 55 |
Features
Showing features for sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 63 | in Ref. 2; BAB55252 | ||||
Sequence: E → G | ||||||
Sequence conflict | 169 | in Ref. 2; BAB55252 | ||||
Sequence: C → R | ||||||
Sequence conflict | 457 | in Ref. 2; BAB55252 | ||||
Sequence: L → S | ||||||
Sequence conflict | 648 | in Ref. 2; BAB55252 | ||||
Sequence: Y → H |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF342736 EMBL· GenBank· DDBJ | AAK28552.1 EMBL· GenBank· DDBJ | mRNA | ||
AK027635 EMBL· GenBank· DDBJ | BAB55252.1 EMBL· GenBank· DDBJ | mRNA | ||
BC014140 EMBL· GenBank· DDBJ | AAH14140.1 EMBL· GenBank· DDBJ | mRNA |