Gene
gnb5b
- ID
- ZDB-GENE-040426-1712
- Name
- guanine nucleotide binding protein (G protein), beta 5b
- Symbol
- gnb5b Nomenclature History
- Previous Names
-
- gnb5
- zgc:73196
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to enable signaling receptor complex adaptor activity. Predicted to be involved in G protein-coupled dopamine receptor signaling pathway. Predicted to act upstream of or within signal transduction. Predicted to be located in membrane. Predicted to be part of heterotrimeric G-protein complex. Predicted to be active in cytoplasm. Is expressed in cardiovascular system; cranial ganglion; neurons; and visual system. Human ortholog(s) of this gene implicated in intellectual developmental disorder with cardiac arrhythmia. Orthologous to human GNB5 (G protein subunit beta 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:73196 (8 images)
- IMAGE:6906816 (9 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| intellectual developmental disorder with cardiac arrhythmia | Alliance | Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia | 617173 |
| Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia | 617182 |
1 - 2 of 2
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR019775 | WD40 repeat, conserved site |
| Domain | IPR001632 | G-protein, beta subunit |
| Family | IPR016346 | Guanine nucleotide-binding protein, beta subunit |
| Homologous_superfamily | IPR015943 | WD40/YVTN repeat-like-containing domain superfamily |
| Homologous_superfamily | IPR036322 | WD40-repeat-containing domain superfamily |
1 - 5 of 7 Show all
Domain Details Per Protein
| Protein | Additional Resources | Length | G-protein, beta subunit | G-protein beta WD-40 repeat | Guanine nucleotide-binding protein, beta subunit | WD40 repeat | WD40 repeat, conserved site | WD40-repeat-containing domain superfamily | WD40/YVTN repeat-like-containing domain superfamily |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q6PBY0 | InterPro | 395 |
1 - 1 of 1
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-235F12 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:6906816 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:73196 | ZFIN Curated Data |
1 - 3 of 3
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_200746 (1) | 1794 nt | ||
| Genomic | GenBank:AL935189 (1) | 170193 nt | ||
| Polypeptide | UniProtKB:Q6PBY0 (1) | 395 aa |
- Mu, X., Qi, S., Wang, H., Yuan, L., Wang, C., Li, Y., Qiu, J. (2022) Bisphenol analogues induced metabolic effects through eliciting intestinal cell heterogeneous response. Environment International. 165:107287
- Veerman, C.C., Mengarelli, I., Koopman, C.D., Wilders, R., van Amersfoorth, S.C., Bakker, D., Wolswinkel, R., Hababa, M., de Boer, T.P., Guan, K., Milnes, J., Lodder, E.M., Bakkers, J., Verkerk, A.O., Bezzina, C.R. (2019) Genetic variation in GNB5 causes bradycardia by augmenting the cholinergic response via increased acetylcholine-activated potassium current (IK,ACh). Disease models & mechanisms. 12(7):
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Sala, L., van Meer, B.J., Tertoolen, L.T., Bakkers, J., Bellin, M., Davis, R.P., Denning, C.N., Dieben, M.A., Eschenhagen, T., Giacomelli, E., Grandela, C., Hansen, A., Holman, E., Jongbloed, M.R., Kamel, S.M., Koopman, C.D., Lachaud, Q., Mannhardt, I., Mol, M.P., Mosqueira, D., Orlova, V.V., Passier, R., Ribeiro, M.C., Saleem, U., Smith, G., Burton, F.L.L., Mummery, C.L. (2017) MUSCLEMOTION: A Versatile Open Software Tool to Quantify Cardiomyocyte and Cardiac Muscle Contraction In Vitro and In Vivo. Circulation research. 122(3):e5-e16
- Sullivan, C., Lage, C.R., Yoder, J.A., Postlethwait, J.H., Kim, C.H. (2017) Evolutionary divergence of the vertebrate TNFAIP8 gene family: Applying the spotted gar orthology bridge to understand ohnolog loss in teleosts. PLoS One. 12:e0179517
- Lodder, E.M., De Nittis, P., Koopman, C.D., Wiszniewski, W., Moura de Souza, C.F., Lahrouchi, N., Guex, N., Napolioni, V., Tessadori, F., Beekman, L., Nannenberg, E.A., Boualla, L., Blom, N.A., de Graaff, W., Kamermans, M., Cocciadiferro, D., Malerba, N., Mandriani, B., Akdemir, Z.H., Fish, R.J., Eldomery, M.K., Ratbi, I., Wilde, A.A., de Boer, T., Simonds, W.F., Neerman-Arbez, M., Sutton, V.R., Kok, F., Lupski, J.R., Reymond, A., Bezzina, C.R., Bakkers, J., Merla, G. (2016) GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability. American journal of human genetics. 99(3):704-10
- Xu, T., Zhao, J., Xu, Z., Pan, R., Yin, D. (2016) The developmental effects of pentachlorophenol on zebrafish embryos during segmentation: A systematic view. Scientific Reports. 6:25929
- 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
- Lagman, D., Sundström, G., Daza, D.O., Abalo, X.M., and Larhammar, D. (2012) Expansion of transducin subunit gene families in early vertebrate tetraploidizations. Genomics. 100(4):203-211
- Xu, H., Kardash, E., Chen, S., Raz, E., and Lin, F. (2012) Gβγ signaling controls the polarization of zebrafish primordial germ cells by regulating Rac activity. Development (Cambridge, England). 139(1):57-62
1 - 10 of 13
Show