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

Genome Assembly

GRCz12tu

Annotation Status

Current

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 several diseases, including autosomal dominant hypocalcemia (multiple); hypercalcemia (multiple); hyperparathyroidism (multiple); idiopathic generalized epilepsy 8; and nephrolithiasis (multiple). Orthologous to human CASR (calcium sensing receptor).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

14 figures from 7 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 9 figures from 5 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With casr Human Ortholog

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

Associated With casr Via Experimental Models

No data available

Gene Ontology

Protein Domains

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
Homologous_superfamily	IPR028082	Periplasmic binding protein-like I
Homologous_superfamily	IPR038550	GPCR, family 3, nine cysteines domain superfamily