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BBS2 Antibodies
AND BBS2 ELISA kits, BBS2 Proteins
Many biological assays use antibodies to detect BBS2, such as Western Blot (WB), ELISA, Flow Cytometry, Immunocytochemistry (IHC). These antibodies can be polyclonal or monoclonal, and react with BBS2 in Human, Mouse, Rat, and many other animal samples. Boster Bio use mainly mouse and rabbit to develop BBS2 antibodies...
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BBS2 Overview
Facts about Bardet-Biedl syndrome 2 protein.
Bardet-Biedl syndrome 2 protein (BBS2)
The BBSome complex is supposed to function as a coat complex required for sorting of certain membrane proteins to the primary cilia. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts that the BBSome.
Rab8(GTP) enters the primary cilium and promotes expansion 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 subsequently the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the bottom of the ciliary membrane.
Gene Information
| Human | |
|---|---|
| Gene Name: | BBS2 |
| Uniprot: | Q9BXC9 |
| Entrez: | 583 |
Family
| Belongs to: |
|---|
| No superfamily |
Alternative Names
Bardet-Biedl syndrome 2 protein; Bardet-Biedl syndrome 2; BBS; MGC20703
Molecular Weight
Mass (kDA):
79.871 kDA
Genomic Context
| Human | |
|---|---|
| Location: | 16q13 |
| Sequence: | 16; NC_000016.10 (56470403..56520095, complement) |
Tissue Specificity
Widely expressed.
Subcellular Localizations
Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.
Diseases
- Bardet-biedl Syndrome
- Obesity
- Polydactyly
- Retinitis Pigmentosa
- Hypertensive Disease
- Dystrophy
- Diabetes Mellitus
- Retinal Dystrophies
- Retinal Diseases
- Congenital Heart Defects
- Kaufman-mckusick Syndrome
Interacting Proteins
- ALDOB
- BBS1
- BBS7
- BBS9
- CEP290
- IQCB1
- MDFI
- MKKS
- PSME3
- RBPMS
Pathways
- Pathogenesis
- Localization
- Transport
- Translation
- Intraflagellar Transport
- Melanosome Transport
- Cell Death
- Feeding Behavior
- Cell Growth
Research Areas
- Vision
For details, visit:
bosterbio.com/bosterbio-gene-info-cards/BBS2
bosterbio.com/bosterbio-gene-info-cards/BBS2
References
PMID: 11285252 by Nishimura D.Y., et al. Positional cloning of a novel gene on chromosome 16q causing Bardet- Biedl syndrome (BBS2).
PMID: 16823392 by Laurier V., et al. Pitfalls of homozygosity mapping: an extended consanguineous Bardet- Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.