Details for: CASR

Gene ID: 846

Symbol: CASR

Ensembl ID: ENSG00000036828

Description: calcium sensing receptor

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 16.4423
    Cell Significance Index: 198.7300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 5.4407
    Cell Significance Index: -1.3800
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 3.9571
    Cell Significance Index: 36.4400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 3.2571
    Cell Significance Index: 199.6900
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 3.0644
    Cell Significance Index: 38.4900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.4459
    Cell Significance Index: 46.3100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.1646
    Cell Significance Index: 31.2100
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: 0.9253
    Cell Significance Index: 3.4900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.8362
    Cell Significance Index: 43.4400
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.7980
    Cell Significance Index: 11.3600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5780
    Cell Significance Index: 57.1800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5132
    Cell Significance Index: 463.3500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.4799
    Cell Significance Index: 10.2200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.3510
    Cell Significance Index: 12.3400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3420
    Cell Significance Index: 37.2000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3137
    Cell Significance Index: 51.0200
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.2935
    Cell Significance Index: 3.0400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2643
    Cell Significance Index: 15.8700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.2641
    Cell Significance Index: 30.7800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2349
    Cell Significance Index: 44.7100
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.2154
    Cell Significance Index: 1.7200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1923
    Cell Significance Index: 13.3000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.1639
    Cell Significance Index: 4.3100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.1570
    Cell Significance Index: 115.1000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1400
    Cell Significance Index: 3.5000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1370
    Cell Significance Index: 8.6400
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.1205
    Cell Significance Index: 1.1100
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.1105
    Cell Significance Index: 1.4500
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.1079
    Cell Significance Index: 0.8300
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 0.1064
    Cell Significance Index: 0.5800
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.1006
    Cell Significance Index: 1.0900
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.0766
    Cell Significance Index: 0.6200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.0737
    Cell Significance Index: 1.0100
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.0677
    Cell Significance Index: 1.0200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0666
    Cell Significance Index: 12.0100
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.0605
    Cell Significance Index: 6.9100
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0588
    Cell Significance Index: 1.2200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0521
    Cell Significance Index: 33.1100
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.0458
    Cell Significance Index: 1.4500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.0452
    Cell Significance Index: 1.2900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0408
    Cell Significance Index: 0.7000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.0346
    Cell Significance Index: 3.9600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 0.0342
    Cell Significance Index: 2.7100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0322
    Cell Significance Index: 1.4600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0225
    Cell Significance Index: 1.5100
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.0217
    Cell Significance Index: 0.3200
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.0208
    Cell Significance Index: 0.3500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0186
    Cell Significance Index: 2.3800
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.0151
    Cell Significance Index: 0.1600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0132
    Cell Significance Index: 0.3800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.0113
    Cell Significance Index: 2.3900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0052
    Cell Significance Index: 3.6200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0022
    Cell Significance Index: 0.3800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0015
    Cell Significance Index: 0.3100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0012
    Cell Significance Index: 0.2400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.0005
    Cell Significance Index: 0.0100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0004
    Cell Significance Index: 0.5800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0003
    Cell Significance Index: 0.3700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.0002
    Cell Significance Index: 0.1300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0002
    Cell Significance Index: 0.1000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0002
    Cell Significance Index: 0.0700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0002
    Cell Significance Index: 0.4600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0002
    Cell Significance Index: 0.3100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.0000
    Cell Significance Index: 0.0200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0013
    Cell Significance Index: -0.0600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0025
    Cell Significance Index: -1.3600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0031
    Cell Significance Index: -0.8900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0033
    Cell Significance Index: -1.5200
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: -0.0033
    Cell Significance Index: -0.0300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0037
    Cell Significance Index: -0.4600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0046
    Cell Significance Index: -0.1000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0079
    Cell Significance Index: -1.0800
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0095
    Cell Significance Index: -0.4100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0110
    Cell Significance Index: -1.6100
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: -0.0116
    Cell Significance Index: -0.1400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0121
    Cell Significance Index: -1.4300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0137
    Cell Significance Index: -1.4000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0140
    Cell Significance Index: -1.4600
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.0150
    Cell Significance Index: -0.2000
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: -0.0157
    Cell Significance Index: -0.1900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0202
    Cell Significance Index: -1.5500
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0233
    Cell Significance Index: -0.5800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0259
    Cell Significance Index: -0.9800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0266
    Cell Significance Index: -1.4900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0274
    Cell Significance Index: -1.7700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0283
    Cell Significance Index: -1.2500
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: -0.0286
    Cell Significance Index: -0.3000
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.0287
    Cell Significance Index: -0.5300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0295
    Cell Significance Index: -0.9400
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.0309
    Cell Significance Index: -0.4700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0321
    Cell Significance Index: -1.9700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0337
    Cell Significance Index: -1.5900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0347
    Cell Significance Index: -0.5800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0348
    Cell Significance Index: -1.2200
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: -0.0360
    Cell Significance Index: -0.3600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0367
    Cell Significance Index: -1.2000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0376
    Cell Significance Index: -1.0500
  • Cell Name: granulocyte (CL0000094)
    Fold Change: -0.0390
    Cell Significance Index: -0.4700
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: -0.0394
    Cell Significance Index: -0.4300
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0411
    Cell Significance Index: -0.4900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Calcium Binding:** CASR is a transmembrane receptor that binds to calcium ions, which triggers a conformational change that activates the receptor. 2. **G-Protein Coupled Receptor (GPCR) Structure:** CASR belongs to the GPCR family, which is characterized by a seven-transmembrane helix structure and a G-protein coupled signaling pathway. 3. **Polypharmacology:** CASR exhibits a wide range of ligand-binding activities, including calcium ion binding, vitamin D binding, and peptide binding. 4. **Cellular Expression:** CASR is expressed in various cell types, including endocrine cells, kidney epithelial cells, endothelial cells, and immune cells. **Pathways and Functions:** CASR's signaling pathway involves the activation of G-proteins, which in turn regulate various downstream signaling events, including: 1. **Intracellular Calcium Ion Homeostasis:** CASR's activation leads to an increase in intracellular calcium levels, which is essential for various cellular processes, including gene expression, cell proliferation, and differentiation. 2. **Gene Expression Regulation:** CASR's signaling pathway regulates the expression of genes involved in calcium homeostasis, cell proliferation, and differentiation. 3. **Cell Proliferation and Differentiation:** CASR's signaling pathway regulates cell proliferation and differentiation in various cell types, including immune cells and epithelial cells. 4. **Vitamin D Signaling:** CASR's binding to vitamin D regulates its activity as a hormone, which is essential for bone health and immune function. 5. **Cellular Response to Stress:** CASR's signaling pathway regulates the cellular response to stress, including hypoxia, ischemia, and fibroblast growth factor stimulation. **Clinical Significance:** Dysregulation of CASR has been implicated in various diseases, including: 1. **Osteoporosis:** CASR's dysregulation leads to impaired calcium homeostasis, which contributes to osteoporosis. 2. **Hypertension:** CASR's dysregulation regulates blood pressure through its effect on calcium homeostasis and vascular smooth muscle contraction. 3. **Cancer:** CASR's dysregulation regulates cell proliferation and differentiation, which contributes to cancer development and progression. 4. **Immune Disorders:** CASR's dysregulation regulates immune cell function, which contributes to immune disorders, including autoimmune diseases and immunodeficiency disorders. In conclusion, the calcium sensing receptor (CASR) plays a critical role in maintaining calcium homeostasis and regulating various cellular processes. Understanding CASR's structure, function, and signaling pathway is essential for developing therapeutic strategies to treat diseases associated with CASR dysregulation.

Genular Protein ID: 3272831200

Symbol: CASR_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8813042

Title: A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.

PubMed ID: 8813042

DOI: 10.1056/nejm199610103351505

PubMed ID: 7759551

Title: Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs.

PubMed ID: 7759551

DOI: 10.1074/jbc.270.21.12919

PubMed ID: 7677761

Title: Molecular cloning of a putative Ca(2+)-sensing receptor cDNA from human kidney.

PubMed ID: 7677761

DOI: 10.1006/bbrc.1995.2318

PubMed ID: 8756555

Title: Expression of a calcium-sensing receptor in a human medullary thyroid carcinoma cell line and its contribution to calcitonin secretion.

PubMed ID: 8756555

DOI: 10.1210/endo.137.9.8756555

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7673400

Title: Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene.

PubMed ID: 7673400

DOI: 10.1210/jcem.80.9.7673400

PubMed ID: 8613532

Title: Changes in calcium responsiveness and handling during keratinocyte differentiation. Potential role of the calcium receptor.

PubMed ID: 8613532

DOI: 10.1172/jci118501

PubMed ID: 16513638

Title: Calcium-sensing receptor ubiquitination and degradation mediated by the E3 ubiquitin ligase dorfin.

PubMed ID: 16513638

DOI: 10.1074/jbc.m513552200

PubMed ID: 17360426

Title: Structures of the extracellular regions of the group II/III metabotropic glutamate receptors.

PubMed ID: 17360426

DOI: 10.1073/pnas.0611577104

PubMed ID: 20861236

Title: Rab1 small GTP-binding protein regulates cell surface trafficking of the human calcium-sensing receptor.

PubMed ID: 20861236

DOI: 10.1210/en.2010-0422

PubMed ID: 26290606

Title: Critical cysteine residues in both the calcium-sensing receptor and the allosteric activator AMG 416 underlie the mechanism of action.

PubMed ID: 26290606

DOI: 10.1124/mol.115.098392

PubMed ID: 27434672

Title: Structural mechanism of ligand activation in human calcium-sensing receptor.

PubMed ID: 27434672

DOI: 10.7554/elife.13662

PubMed ID: 27386547

Title: Structural basis for regulation of human calcium-sensing receptor by magnesium ions and an unexpected tryptophan derivative co-agonist.

PubMed ID: 27386547

DOI: 10.1126/sciadv.1600241

PubMed ID: 7916660

Title: Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

PubMed ID: 7916660

DOI: 10.1016/0092-8674(93)90617-y

PubMed ID: 7874174

Title: Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation.

PubMed ID: 7874174

DOI: 10.1038/ng1194-303

PubMed ID: 7726161

Title: Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia.

PubMed ID: 7726161

PubMed ID: 8675635

Title: Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.

PubMed ID: 8675635

DOI: 10.1172/jci118335

PubMed ID: 8698326

Title: The Ca(2+)-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism.

PubMed ID: 8698326

DOI: 10.1007/s004390050174

PubMed ID: 8733126

Title: Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism.

PubMed ID: 8733126

DOI: 10.1093/hmg/5.5.601

PubMed ID: 8702647

Title: Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor.

PubMed ID: 8702647

DOI: 10.1074/jbc.271.32.19537

PubMed ID: 8636323

Title: Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains.

PubMed ID: 8636323

DOI: 10.1210/jcem.81.4.8636323

PubMed ID: 8878438

Title: Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells.

PubMed ID: 8878438

DOI: 10.1172/jci118987

PubMed ID: 9298824

Title: A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia.

PubMed ID: 9298824

DOI: 10.1002/(sici)1098-1004(1997)10:3<233::aid-humu9>3.0.co;2-j

PubMed ID: 9253358

Title: Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor.

PubMed ID: 9253358

DOI: 10.1210/jcem.82.8.4166

PubMed ID: 9253359

Title: Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism.

PubMed ID: 9253359

DOI: 10.1210/jcem.82.8.4135

PubMed ID: 9661634

Title: Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor.

PubMed ID: 9661634

DOI: 10.1210/jcem.83.7.4920

PubMed ID: 10468915

Title: An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor.

PubMed ID: 10468915

DOI: 10.1046/j.1365-2265.1999.00729.x

PubMed ID: 9920108

Title: A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia.

PubMed ID: 9920108

DOI: 10.1210/jcem.84.1.5385

PubMed ID: 10487661

Title: Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis.

PubMed ID: 10487661

DOI: 10.1210/jcem.84.9.5977

PubMed ID: 10023897

Title: A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations.

PubMed ID: 10023897

DOI: 10.1016/s0140-6736(98)06434-4

PubMed ID: 10843194

Title: Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor.

PubMed ID: 10843194

DOI: 10.1210/jcem.85.5.6477

PubMed ID: 11762699

Title: A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia.

PubMed ID: 11762699

DOI: 10.1385/endo:15:3:277

PubMed ID: 11161843

Title: Association between total serum calcium and the A986S polymorphism of the calcium-sensing receptor gene.

PubMed ID: 11161843

DOI: 10.1006/mgme.2000.3126

PubMed ID: 12050233

Title: A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor.

PubMed ID: 12050233

DOI: 10.1210/jcem.87.6.8531

PubMed ID: 12107202

Title: Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene.

PubMed ID: 12107202

DOI: 10.1210/jcem.87.7.8639

PubMed ID: 12241879

Title: Association between activating mutations of calcium-sensing receptor and Bartter's syndrome.

PubMed ID: 12241879

DOI: 10.1016/s0140-6736(02)09842-2

PubMed ID: 12574188

Title: Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor.

PubMed ID: 12574188

DOI: 10.1210/jc.2002-020081

PubMed ID: 12915654

Title: Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene.

PubMed ID: 12915654

DOI: 10.1210/jc.2003-030409

PubMed ID: 15531522

Title: Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor.

PubMed ID: 15531522

DOI: 10.1210/jc.2004-0129

PubMed ID: 15579740

Title: Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing receptor.

PubMed ID: 15579740

DOI: 10.1210/jc.2004-1046

PubMed ID: 14985373

Title: Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications.

PubMed ID: 14985373

DOI: 10.1136/jmg.2003.016725

PubMed ID: 15551332

Title: A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia.

PubMed ID: 15551332

DOI: 10.1002/ajmg.a.30403

PubMed ID: 15879434

Title: Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia.

PubMed ID: 15879434

DOI: 10.1093/hmg/ddi176

PubMed ID: 15572418

Title: Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism.

PubMed ID: 15572418

DOI: 10.1210/jc.2004-1791

PubMed ID: 16598859

Title: Identification of a novel inactivating R465Q mutation of the calcium-sensing receptor.

PubMed ID: 16598859

DOI: 10.1016/j.bbrc.2006.02.018

PubMed ID: 16740594

Title: Calcium-sensing receptor dimerizes in the endoplasmic reticulum: biochemical and biophysical characterization of CASR mutants retained intracellularly.

PubMed ID: 16740594

DOI: 10.1093/hmg/ddl145

PubMed ID: 16608894

Title: A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone.

PubMed ID: 16608894

DOI: 10.1210/jc.2005-2605

PubMed ID: 17473068

Title: Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status.

PubMed ID: 17473068

DOI: 10.1210/jc.2007-0123

PubMed ID: 17555508

Title: Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene.

PubMed ID: 17555508

DOI: 10.1111/j.1365-2265.2007.02896.x

PubMed ID: 17698911

Title: Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population.

PubMed ID: 17698911

DOI: 10.1210/jc.2007-0322

PubMed ID: 18756473

Title: An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene.

PubMed ID: 18756473

DOI: 10.1002/ana.21428

PubMed ID: 19789209

Title: A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia.

PubMed ID: 19789209

DOI: 10.1210/jc.2008-2484

PubMed ID: 19179454

Title: Calcium-sensing receptor mutations and denaturing high performance liquid chromatography.

PubMed ID: 19179454

DOI: 10.1677/jme-08-0164

PubMed ID: 20846291

Title: A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia.

PubMed ID: 20846291

DOI: 10.1111/j.1365-2265.2010.03870.x

PubMed ID: 21566075

Title: A novel mutation in the calcium-sensing receptor in a French family with familial hypocalciuric hypercalcaemia.

PubMed ID: 21566075

DOI: 10.1530/eje-11-0141

PubMed ID: 22114145

Title: Agonist-driven maturation and plasma membrane insertion of calcium-sensing receptors dynamically control signal amplitude.

PubMed ID: 22114145

DOI: 10.1126/scisignal.2002208

PubMed ID: 21643651

Title: Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine.

PubMed ID: 21643651

DOI: 10.1007/s00431-011-1504-8

PubMed ID: 23966241

Title: Loss-of-function and gain-of-function mutations of calcium-sensing receptor: functional analysis and the effect of allosteric modulators NPS R-568 and NPS 2143.

PubMed ID: 23966241

DOI: 10.1210/jc.2013-1974

PubMed ID: 23169696

Title: Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.

PubMed ID: 23169696

DOI: 10.1530/eje-12-0714

PubMed ID: 25292184

Title: A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria.

PubMed ID: 25292184

DOI: 10.1186/1472-6823-14-81

PubMed ID: 25104082

Title: Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population.

PubMed ID: 25104082

DOI: 10.1093/ndt/gfu065

PubMed ID: 26386835

Title: Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia.

PubMed ID: 26386835

DOI: 10.1007/s00774-015-0713-z

PubMed ID: 25766501

Title: Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia.

PubMed ID: 25766501

DOI: 10.1016/j.mce.2015.02.021

PubMed ID: 22789683

Title: CASR gene activating mutations in two families with autosomal dominant hypocalcemia.

PubMed ID: 22789683

DOI: 10.1016/j.ymgme.2012.06.012

Sequence Information:

  • Length: 1078
  • Mass: 120675
  • Checksum: D60C57C6C743FC06
  • Sequence:
  • MAFYSCCWVL LALTWHTSAY GPDQRAQKKG DIILGGLFPI HFGVAAKDQD LKSRPESVEC 
    IRYNFRGFRW LQAMIFAIEE INSSPALLPN LTLGYRIFDT CNTVSKALEA TLSFVAQNKI 
    DSLNLDEFCN CSEHIPSTIA VVGATGSGVS TAVANLLGLF YIPQVSYASS SRLLSNKNQF 
    KSFLRTIPND EHQATAMADI IEYFRWNWVG TIAADDDYGR PGIEKFREEA EERDICIDFS 
    ELISQYSDEE EIQHVVEVIQ NSTAKVIVVF SSGPDLEPLI KEIVRRNITG KIWLASEAWA 
    SSSLIAMPQY FHVVGGTIGF ALKAGQIPGF REFLKKVHPR KSVHNGFAKE FWEETFNCHL 
    QEGAKGPLPV DTFLRGHEES GDRFSNSSTA FRPLCTGDEN ISSVETPYID YTHLRISYNV 
    YLAVYSIAHA LQDIYTCLPG RGLFTNGSCA DIKKVEAWQV LKHLRHLNFT NNMGEQVTFD 
    ECGDLVGNYS IINWHLSPED GSIVFKEVGY YNVYAKKGER LFINEEKILW SGFSREVPFS 
    NCSRDCLAGT RKGIIEGEPT CCFECVECPD GEYSDETDAS ACNKCPDDFW SNENHTSCIA 
    KEIEFLSWTE PFGIALTLFA VLGIFLTAFV LGVFIKFRNT PIVKATNREL SYLLLFSLLC 
    CFSSSLFFIG EPQDWTCRLR QPAFGISFVL CISCILVKTN RVLLVFEAKI PTSFHRKWWG 
    LNLQFLLVFL CTFMQIVICV IWLYTAPPSS YRNQELEDEI IFITCHEGSL MALGFLIGYT 
    CLLAAICFFF AFKSRKLPEN FNEAKFITFS MLIFFIVWIS FIPAYASTYG KFVSAVEVIA 
    ILAASFGLLA CIFFNKIYII LFKPSRNTIE EVRCSTAAHA FKVAARATLR RSNVSRKRSS 
    SLGGSTGSTP SSSISSKSNS EDPFPQPERQ KQQQPLALTQ QEQQQQPLTL PQQQRSQQQP 
    RCKQKVIFGS GTVTFSLSFD EPQKNAMAHR NSTHQNSLEA QKSSDTLTRH EPLLPLQCGE 
    TDLDLTVQET GLQGPVGGDQ RPEVEDPEEL SPALVVSSSQ SFVISGGGST VTENVVNS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.