Gene
bbs7
- ID
- ZDB-GENE-030219-90
- Name
- Bardet-Biedl syndrome 7
- Symbol
- bbs7 Nomenclature History
- Previous Names
-
- id:ibd5048
- zgc:153772
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Involved in cilium assembly; melanosome transport; and tube morphogenesis. Acts upstream of or within several processes, including Kupffer's vesicle development; pectoral fin development; and pigment granule aggregation in cell center. Predicted to be located in cilium; cytoplasm; and cytoskeleton. Predicted to be part of BBSome. Predicted to be active in cytoskeleton; membrane; and neuron projection. Is expressed in brain; eye; fin; otic placode; and photoreceptor outer segment layer. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 7. Orthologous to human BBS7 (Bardet-Biedl syndrome 7).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa908 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa6356 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa14873 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa32004 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| tpl11Gt | Transgenic insertion | Unknown | Unknown | DNA |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-bbs7 | N/A | (6) |
| MO2-bbs7 | N/A | Yen et al., 2006 |
| MO3-bbs7 | N/A | Yen et al., 2006 |
| MO4-bbs7 | N/A | Lindstrand et al., 2016 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bardet-Biedl syndrome 7 | Alliance | Bardet-Biedl syndrome 7 | 615984 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Bardet-Biedl syndrome 7 protein | BBS7, beta-propeller | BBS7, GAE domain | BBS7, helical hairpin | BBS7, platform domain | WD40-repeat-containing domain superfamily |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q08C18 | InterPro | 715 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-13A3 | ZFIN Curated Data | |
| Encodes | EST | ibd5048 | ||
| Encodes | cDNA | MGC:153772 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001077145 (1) | 2664 nt | ||
| Genomic | GenBank:BX004823 (1) | 197683 nt | ||
| Polypeptide | UniProtKB:Q08C18 (1) | 715 aa |
- Madera, D., Alonso-Gómez, A., Delgado, M.J., Valenciano, A.I., Alonso-Gómez, Á.L. (2023) Gene Characterization of Nocturnin Paralogues in Goldfish: Full Coding Sequences, Structure, Phylogeny and Tissue Expression. International Journal of Molecular Sciences. 25(1):
- 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
- Lu, J.K., Tsai, T.C., Lee, H., Hsia, K., Lin, C.H., Lu, J.H. (2019) Pectoral Fin Anomalies in tbx5a Knockdown Zebrafish Embryos Related to the Cascade Effect of N-Cadherin and Extracellular Matrix Formation. Journal of developmental biology. 7(3)
- 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
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Choksi, S.P., Babu, D., Lau, D., Yu, X., Roy, S. (2014) Systematic discovery of novel ciliary genes through functional genomics in the zebrafish. Development (Cambridge, England). 141:3410-9
- 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
- Mei, X., Westfall, T.A., Zhang, Q., Sheffield, V.C., Bassuk, A.G., Slusarski, D.C. (2014) Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms. Developmental Biology. 392(2):245-55
- Balciuniene, J., Nagelberg, D., Walsh, K., Camerota, D., Georlette, D., Biemar, F., Bellipanni, G., and Balciunas, D. (2013) Efficient disruption of Zebrafish genes using a Gal4-containing gene trap. BMC Genomics. 14(1):619
- 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
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