Gene
casr
- ID
- ZDB-GENE-050119-8
- Name
- calcium-sensing receptor
- Symbol
- casr Nomenclature History
- Previous Names
-
- CaSR (1)
- casrl
- zmp:0000001046
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable G protein-coupled receptor activity and calcium ion binding activity. Acts upstream of or within calcium ion homeostasis and skeletal system development. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including head; integument; nervous system; notochord; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in autosomal dominant hypocalcemia (multiple); hypercalcemia (multiple); hyperparathyroidism (multiple); intellectual disability; and nephrolithiasis (multiple). Orthologous to human CASR (calcium sensing receptor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 14 figures from 7 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 |
|---|---|---|---|---|---|
| p190 | Allele with one point mutation | Unknown | Missense | ENU | |
| p198 | Allele with one deletion | Unknown | Frameshift, Premature Stop | CRISPR | |
| sa20589 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| vu708 | Allele with one deletion | Exon 4 | Unknown | CRISPR | |
| vu709 | Allele with one delins | Exon 4 | Unknown | CRISPR |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant hypocalcemia 1 | Alliance | Hypocalcemia, autosomal dominant | 601198 |
| autosomal dominant hypocalcemia 1 | Alliance | Hypocalcemia, autosomal dominant, with Bartter syndrome | 601198 |
| familial hypocalciuric hypercalcemia 1 | Alliance | Hypocalciuric hypercalcemia, type I | 145980 |
| Hyperparathyroidism, neonatal | 239200 | ||
| {?Epilepsy idiopathic generalized, susceptibility to, 8} | 612899 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001828 | Receptor, ligand binding region |
| Domain | IPR011500 | GPCR, family 3, nine cysteines domain |
| Domain | IPR017978 | GPCR family 3, C-terminal |
| Family | IPR000068 | GPCR, family 3, extracellular calcium-sensing receptor-related |
| Family | IPR000337 | GPCR, family 3 |
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Domain Details Per Protein
| Protein | Additional Resources | Length | GPCR, family 3 | GPCR family 3, C-terminal | GPCR, family 3, extracellular calcium-sensing receptor-related | GPCR, family 3, nine cysteines domain | GPCR, family 3, nine cysteines domain superfamily | Periplasmic binding protein-like I | Receptor, ligand binding region |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:F1R4B8 | InterPro | 944 | |||||||
| UniProtKB:A0A8M6Z789 | InterPro | 956 | |||||||
| UniProtKB:A0A8M1P4E9 | InterPro | 946 |
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- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance
- Gong, Y., Yang, B., Zhang, D., Zhang, Y., Tang, Z., Yang, L., Coate, K.C., Yin, L., Covington, B.A., Patel, R.S., Siv, W.A., Sellick, K., Shou, M., Chang, W., Danielle Dean, E., Powers, A.C., Chen, W. (2023) Hyperaminoacidemia induces pancreatic α cell proliferation via synergism between the mTORC1 and CaSR-Gq signaling pathways. Nature communications. 14:235235
- Shoenhard, H., Jain, R.A., Granato, M. (2022) The calcium-sensing receptor (CaSR) regulates zebrafish sensorimotor decision making via a genetically defined cluster of hindbrain neurons. Cell Reports. 41:111790111790
- Del Vecchio, G., Murashita, K., Verri, T., Gomes, A.S., Rønnestad, I. (2021) Leptin receptor-deficient (knockout) zebrafish: effects on nutrient acquisition. General and comparative endocrinology. 310:113832
- Jain, R.A., Wolman, M.A., Marsden, K.C., Nelson, J.C., Shoenhard, H., Echeverry, F.A., Szi, C., Bell, H., Skinner, J., Cobbs, E.N., Sawada, K., Zamora, A.D., Pereda, A.E., Granato, M. (2018) A Forward Genetic Screen in Zebrafish Identifies the G-Protein-Coupled Receptor CaSR as a Modulator of Sensorimotor Decision Making. Current biology : CB. 28(9):1357-1369.e5
- Lin, L.Y., Yeh, Y.H., Hung, G.Y., Lin, C.H., Hwang, P.P., Horng, J.L. (2018) Role of Calcium-Sensing Receptor in Mechanotransducer-Channel-Mediated Ca2+ Influx in Hair Cells of Zebrafish Larvae.. Frontiers in Physiology. 9:649
- Chiba, A., Watanabe-Takano, H., Terai, K., Fukui, H., Miyazaki, T., Uemura, M., Hashimoto, H., Hibi, M., Fukuhara, S., Mochizuki, N. (2017) Osteocrin, a peptide secreted from the heart and other tissues, contributes to cranial osteogenesis and chondrogenesis in zebrafish. Development (Cambridge, England). 144(2):334-344
- Lin, C.H., Hu, H.J., Hwang, P.P. (2017) Molecular physiology of the hypocalcemic action of fibroblast growth factor 23 in zebrafish (Danio rerio). Endocrinology. 158(5):1347-1358
- Pillar, N., Pleniceanu, O., Fang, M., Ziv, L., Lahav, E., Botchan, S., Cheng, L., Dekel, B., Shomron, N. (2017) A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism. Human genetics. 136(7):835-845
- Kumai, Y., Kwong, R.W., Perry, S.F. (2015) A role for transcription factor glial cell missing 2 in Ca(2+) homeostasis in zebrafish, Danio rerio. Pflugers Archiv : European journal of physiology. 467(4):753-65
- Dai, W., Bai, Y., Hebda, L., Zhong, X., Liu, J., Kao, J., and Duan, C. (2014) Calcium deficiency-induced and TRP channel-regulated IGF1R-PI3K-Akt signaling regulates abnormal epithelial cell proliferation. Cell death and differentiation. 21(4):568-81
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