Details for: CASR
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
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.
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.
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
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
PubMed ID: 7759551
Title: Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs.
PubMed ID: 7759551
PubMed ID: 7677761
Title: Molecular cloning of a putative Ca(2+)-sensing receptor cDNA from human kidney.
PubMed ID: 7677761
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
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
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
PubMed ID: 17360426
Title: Structures of the extracellular regions of the group II/III metabotropic glutamate receptors.
PubMed ID: 17360426
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
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
PubMed ID: 7916660
Title: Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.
PubMed ID: 7916660
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
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
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
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
PubMed ID: 9253359
Title: Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism.
PubMed ID: 9253359
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
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
PubMed ID: 9920108
Title: A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia.
PubMed ID: 9920108
PubMed ID: 10487661
Title: Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis.
PubMed ID: 10487661
PubMed ID: 10023897
Title: A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations.
PubMed ID: 10023897
PubMed ID: 10843194
Title: Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor.
PubMed ID: 10843194
PubMed ID: 11762699
Title: A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia.
PubMed ID: 11762699
PubMed ID: 11161843
Title: Association between total serum calcium and the A986S polymorphism of the calcium-sensing receptor gene.
PubMed ID: 11161843
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
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
PubMed ID: 12241879
Title: Association between activating mutations of calcium-sensing receptor and Bartter's syndrome.
PubMed ID: 12241879
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
PubMed ID: 12915654
Title: Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene.
PubMed ID: 12915654
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
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
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
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
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
PubMed ID: 21643651
Title: Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine.
PubMed ID: 21643651
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
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
PubMed ID: 25766501
Title: Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia.
PubMed ID: 25766501
PubMed ID: 22789683
Title: CASR gene activating mutations in two families with autosomal dominant hypocalcemia.
PubMed ID: 22789683
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.