Gene
bbs2
- ID
- ZDB-GENE-020801-1
- Name
- Bardet-Biedl syndrome 2
- Symbol
- bbs2 Nomenclature History
- Previous Names
-
- fb80a05
- wu:fb80a05 (1)
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Involved in cilium assembly and melanosome transport. Acts upstream of or within several processes, including Kupffer's vesicle development; photoreceptor cell maintenance; and pigment granule aggregation in cell center. Predicted to be located in centriolar satellite; ciliary membrane; and cytoplasm. Predicted to be part of BBSome. Predicted to be active in several cellular components, including ciliary basal body; motile cilium; and neuron projection. Is expressed in eye; photoreceptor outer segment layer; retina; and retinal photoreceptor layer. Used to study Bardet-Biedl syndrome. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 2; obesity; and retinitis pigmentosa 74. Orthologous to human BBS2 (Bardet-Biedl syndrome 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:73041 (11 images)
Wild Type Expression Summary
- All Phenotype Data
- 14 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-bbs2 | (2) | |
| MO1-bbs2 | N/A | (2) |
| MO2-bbs2 | N/A | Yen et al., 2006 |
| MO3-bbs2 | N/A | (2) |
| MO4-bbs2 | N/A | Lindstrand et al., 2016 |
1 - 5 of 5
Show
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bardet-Biedl syndrome 2 | Alliance | Bardet-Biedl syndrome 2 | 615981 |
| retinitis pigmentosa 74 | Alliance | Retinitis pigmentosa 74 | 616562 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Bardet-Biedl syndrome | bbs2lri82/lri82 | standard conditions | Song et al., 2020 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR029333 | BBS2, GAE domain |
| Domain | IPR029429 | Ciliary BBSome complex subunit 2, middle region |
| Domain | IPR029430 | Ciliary BBSome complex subunit 2, N-terminal |
| Family | IPR016616 | Bardet-Biedl syndrome 2 protein |
| Homologous_superfamily | IPR015943 | WD40/YVTN repeat-like-containing domain superfamily |
| Homologous_superfamily | IPR036322 | WD40-repeat-containing domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Bardet-Biedl syndrome 2 protein | BBS2, GAE domain | Ciliary BBSome complex subunit 2, middle region | Ciliary BBSome complex subunit 2, N-terminal | WD40-repeat-containing domain superfamily | WD40/YVTN repeat-like-containing domain superfamily |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q98SP7 | InterPro | 715 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-102F14 | ZFIN Curated Data | |
| Encodes | EST | fb80a05 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:73041 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:86590 | ZFIN Curated Data |
1 - 4 of 4
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_152887 (1) | 2589 nt | ||
| Genomic | GenBank:BX908765 (1) | 155120 nt | ||
| Polypeptide | UniProtKB:Q98SP7 (1) | 715 aa |
- Grabinski, S.E., Parsana, D., Perkins, B.D. (2023) Comparative analysis of transcriptional changes in zebrafish cep290 and bbs2 mutants by RNA-seq reveals upregulation of inflammatory and stress-related pathways. Frontiers in molecular neuroscience. 16:11488401148840
- Masek, M., Etard, C., Hofmann, C., Hülsmeier, A.J., Zang, J., Takamiya, M., Gesemann, M., Neuhauss, S.C.F., Hornemann, T., Strähle, U., Bachmann-Gagescu, R. (2022) Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition. Nature communications. 13:1282
- Leventea, E., Zhu, Z., Fang, X., Nikolaeva, Y., Markham, E., Hirst, R.A., van Eeden, F.J.M., Malicki, J.J. (2021) Ciliopathy genes are required for apical secretion of Cochlin, an otolith crystallization factor. Proceedings of the National Academy of Sciences of the United States of America. 118(28):
- Song, P., Fogerty, J., Cianciolo, L.T., Stupay, R., Perkins, B.D. (2020) Cone Photoreceptor Degeneration and Neuroinflammation in the Zebrafish Bardet-Biedl Syndrome 2 (bbs2) Mutant Does Not Lead to Retinal Regeneration. Frontiers in cell and developmental biology. 8:578528
- Lindstrand, A., Frangakis, S., Carvalho, C.M., Richardson, E.B., McFadden, K.A., Willer, J.R., Pehlivan, D., Liu, P., Pediaditakis, I.L., Sabo, A., Lewis, R.A., Banin, E., Lupski, J.R., Davis, E.E., Katsanis, N. (2016) Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. American journal of human genetics. 99:318-336
- Teoh, S.L., Ogawa, S., Parhar, I.S. (2015) Localization of Genes Encoding Metallothionein-like Protein (mt2 and smtb) in the Brain of Zebrafish. Journal of chemical neuroanatomy. 70:20-32
- Lindstrand, A., Davis, E.E., Carvalho, C.M., Pehlivan, D., Willer, J.R., Tsai, I.C., Ramanathan, S., Zuppan, C., Sabo, A., Muzny, D., Gibbs, R., Liu, P., Lewis, R.A., Banin, E., Lupski, J.R., Clark, R., Katsanis, N. (2014) Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome. American journal of human genetics. 94:745-54
- Wang, L., Fu, C., Fan, H., Du, T., Dong, M., Chen, Y., Jin, Y., Zhou, Y., Deng, M., Gu, A., Jing, Q., Liu, T., and Zhou, Y. (2013) miR-34b regulates multiciliogenesis during organ formation in zebrafish. Development (Cambridge, England). 140(13):2755-2764
- Davis, E.E., Zhang, Q., Liu, Q., Diplas, B.H., Davey, L.M., Hartley, J., Stoetzel, C., Szymanska, K., Ramaswami, G., Logan, C.V., Muzny, D.M., Young, A.C., Wheeler, D.A., Cruz, P., Morgan, M., Lewis, L.R., Cherukuri, P., Maskeri, B., Hansen, N.F., Mullikin, J.C., Blakesley, R.W., Bouffard, G.G., NISC Comparative Sequencing Program, Gyapay, G., Rieger, S., Tönshoff, B., Kern, I., Soliman, N.A., Neuhaus, T.J., Swoboda, K.J., Kayserili, H., Gallagher, T.E., Lewis, R.A., Bergmann, C., Otto, E.A., Saunier, S., Scambler, P.J., Beales, P.L., Gleeson, J.G., Maher, E.R., Attié-Bitach, T., Dollfus, H., Johnson, C.A., Green, E.D., Gibbs, R.A., Hildebrandt, F., Pierce, E.A., Katsanis, N. (2011) TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nature Genetics. 43(3):189-196
- Zaghloul, N.A., Liu, Y., Gerdes, J.M., Gascue, C., Oh, E.C., Leitch, C.C., Bromberg, Y., Binkley, J., Leibel, R.L., Sidow, A., Badano, J.L., and Katsanis, N. (2010) Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. Proceedings of the National Academy of Sciences of the United States of America. 107(23):10602-10607
1 - 10 of 16
Show