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CASR Gene(Protein Coding)

Calcium Sensing Receptor

GCID:
GC03P122183
GIFtS:
73
Genes Participants
UDN Logo

Aliases for CASR Gene

Aliases for CASR Gene

  • Calcium Sensing Receptor 2 3 5
  • Parathyroid Cell Calcium-Sensing Receptor 1 3 4
  • GPRC2A 3 4
  • PCAR1 3 4
  • Extracellular Calcium-Sensing Receptor 3
  • Parathyroid Ca(2+)-Sensing Receptor 1 3
  • Severe Neonatal Hyperparathyroidism 2
  • Hypocalciuric Hypercalcemia 1 2
  • Calcium-Sensing Receptor 2
  • HYPOC1 3
  • NSHPT 3
  • HCasR 3
  • EIG8 3
  • HHC1 3
  • CaSR 4
  • CAR 3
  • FHH 3
  • FIH 3
  • HHC 3

External Ids for CASR Gene

Previous HGNC Symbols for CASR Gene

  • HHC
  • HHC1

Previous GeneCards Identifiers for CASR Gene

  • GC03P118638
  • GC03P121820
  • GC03P123183
  • GC03P123223
  • GC03P123385
  • GC03P119276
  • GC03P121902

Summaries for CASR Gene

Entrez Gene Summary for CASR Gene

  • The protein encoded by this gene is a G protein-coupled receptor that is expressed in the parathyroid hormone (PTH)-producing chief cells of the parathyroid gland, and the cells lining the kidney tubule. It senses small changes in circulating calcium concentration and couples this information to intracellular signaling pathways that modify PTH secretion or renal cation handling, thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene cause familial hypocalciuric hypercalcemia, familial, isolated hypoparathyroidism, and neonatal severe primary hyperparathyroidism. [provided by RefSeq, Jul 2008]

GeneCards Summary for CASR Gene

CASR (Calcium Sensing Receptor) is a Protein Coding gene. Diseases associated with CASR include Hypocalcemia, Autosomal Dominant and Hyperparathyroidism, Neonatal. Among its related pathways are Proton Pump Inhibitor Pathway, Pharmacodynamics and RET signaling. GO annotations related to this gene include G-protein coupled receptor activity and protein kinase binding. An important paralog of this gene is GPRC6A.

UniProtKB/Swiss-Prot for CASR Gene

  • Senses changes in the extracellular concentration of calcium ions. The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system.

Tocris Summary for CASR Gene

  • The calcium-sensing receptor (CaSR) is a G-protein coupled receptor (GPCR) that senses extracellular Ca2+. The CaSR has wide tissue expression being found in the parathyroid gland, thyroid, kidney, intestine, skin, brain, heart, pancreas, bone and lung.

Gene Wiki entry for CASR Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CASR Gene

Genomics for CASR Gene

Products:

  1. Regulatory Element

Regulatory Elements for CASR Gene

Enhancers for CASR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G122065 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.5 -116.5 -116475 2.8 PKNOX1 TBL1XR1 NFIB MAX CEBPG EBF1 ARID3A NFYB ETV6 IKZF2 CASR CD86 EAF2 HCLS1 PARP9 DTX3L ILDR1
GH03G122232 1.4 FANTOM5 Ensembl ENCODE 11.2 +49.7 49731 2.0 HDGF CTCF PKNOX1 WRNIP1 BACH1 MAX BMI1 EBF1 ZBTB40 RELA CASR IQCB1 CD86 PARP14 PARP9 DTX3L KPNA1 GOLGB1 CSTA HNRNPA1P23
GH03G122245 1.2 FANTOM5 Ensembl ENCODE 10.8 +63.3 63252 2.8 CTCF BHLHE40 ASH2L ZNF239 IKZF1 STAT3 MLLT1 FOS CASR PARP14 PARP9 IQCB1 HSPBAP1 CD86 DTX3L KPNA1 CSTA GOLGB1
GH03G122362 1 ENCODE 9.3 +181.4 181372 4.6 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207 LOC102723582 WDR5B CSTA SEC22A CASR CCDC58
GH03G122258 0.9 Ensembl 10.2 +75.2 75234 0.2 TBP TBL1XR1 ZNF2 THRB RAD21 RFX5 ZNF143 ZNF207 RELB IKZF2 CASR HNRNPA1P23
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CASR on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the CASR gene promoter:

Genomic Location for CASR Gene

Chromosome:
3
Start:
122,183,667 bp from pter
End:
122,291,629 bp from pter
Size:
107,963 bases
Orientation:
Plus strand

Genomic View for CASR Gene

Genes around CASR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CASR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CASR Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CASR Gene

Proteins for CASR Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for CASR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P41180-CASR_HUMAN
    Recommended name:
    Extracellular calcium-sensing receptor
    Protein Accession:
    P41180
    Secondary Accessions:
    • Q13912
    • Q16108
    • Q16109
    • Q16110
    • Q16379
    • Q2M1T0
    • Q4PJ19

    Protein attributes for CASR Gene

    Size:
    1078 amino acids
    Molecular mass:
    120674 Da
    Quaternary structure:
    • Interacts with VCP and RNF19A. Interacts with ARRB1 (By similarity).

    Three dimensional structures from OCA and Proteopedia for CASR Gene

    Alternative splice isoforms for CASR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CASR Gene

Protein Expression for CASR Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CASR Gene

  • N-glycosylated.
  • Ubiquitinated by RNF19A; which induces proteasomal degradation.
  • Glycosylation at posLast=9090, Asn130, posLast=261261, Asn287, Asn386, posLast=400400, Asn446, Asn468, Asn488, Asn541, and posLast=594594
  • Modification sites at PhosphoSitePlus

Other Protein References for CASR Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CASR (CaR)
  • Santa Cruz Biotechnology (SCBT) Antibodies for CASR

No data available for DME Specific Peptides for CASR Gene

Domains & Families for CASR Gene

Gene Families for CASR Gene

HGNC:
IUPHAR :

Protein Domains for CASR Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CASR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P41180

UniProtKB/Swiss-Prot:

CASR_HUMAN :
  • Belongs to the G-protein coupled receptor 3 family.
Family:
  • Belongs to the G-protein coupled receptor 3 family.
genes like me logo Genes that share domains with CASR: view

Function for CASR Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for CASR Gene

GENATLAS Biochemistry:
extracellular calcium sensing receptor gene 1,bovine homolog,expressed in parathyroid cells,C cells of thyroid,also expressed in kidney on the basolateral surface of cells of the thick ascending limbs,and on the luminal surface of cells of the papillary collecting duct,also expressed in the brain,in pancreatic islet B cells and putatively involved in the regulation of insulin release,G protein coupled receptor superfamily,activating phospholipase C
UniProtKB/Swiss-Prot Function:
Senses changes in the extracellular concentration of calcium ions. The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system.

Gene Ontology (GO) - Molecular Function for CASR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004435 phosphatidylinositol phospholipase C activity TAS 7874174
GO:0004871 signal transducer activity IEA --
GO:0004930 G-protein coupled receptor activity IDA,TAS 27434672
GO:0005178 integrin binding IEA --
GO:0005509 calcium ion binding IDA,IEA 27434672
genes like me logo Genes that share ontologies with CASR: view
genes like me logo Genes that share phenotypes with CASR: view

Human Phenotype Ontology for CASR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CASR Gene

MGI Knock Outs for CASR:

Animal Model Products

CRISPR Products

miRNA for CASR Gene

miRTarBase miRNAs that target CASR

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CASR
  • R&D Systems cDNA Clones for CASR (Calcium-sensing R/CaSR)

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CASR Gene

Localization for CASR Gene

Subcellular locations from UniProtKB/Swiss-Prot for CASR Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CASR gene
Compartment Confidence
plasma membrane 5
cytoskeleton 3
extracellular 2
endoplasmic reticulum 2
cytosol 2
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CASR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,IDA 8702647
GO:0009986 cell surface IEA --
genes like me logo Genes that share ontologies with CASR: view

Pathways & Interactions for CASR Gene

genes like me logo Genes that share pathways with CASR: view

SIGNOR curated interactions for CASR Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for CASR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification TAS 7874174
GO:0002931 response to ischemia IEA --
GO:0005513 detection of calcium ion IDA,TAS 27434672
GO:0006816 calcium ion transport IEA --
GO:0006874 cellular calcium ion homeostasis TAS,IDA 27434672
genes like me logo Genes that share ontologies with CASR: view

Drugs & Compounds for CASR Gene

Products:

  1. Drug

(52) Drugs for CASR Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, FDA Approved Drugs, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cinacalcet Approved Pharma Positive, Allosteric regulator, agonist, Target 0
Strontium ranelate Approved Pharma 6
spermine Approved Nutra Full agonist, Agonist 0
L-Tryptophan Approved, Withdrawn Nutra Positive, Allosteric regulator, binder 0
Sensipar Approved March 2004 Pharma 0

(28) Additional Compounds for CASR Gene - From: Novoseek and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-methyl-3-phenethyl-3H-pyrimidin-4-one (cmp 2H)
Antagonist
NPS R-568
Positive, Allosteric regulator

(4) Tocris Compounds for CASR Gene

Compound Action Cas Number
Calhex 231 hydrochloride Negative allosteric modulator of the calcium-sensing receptor 652973-93-8
NPS 2143 hydrochloride Selective antagonist of the calcium-sensing receptor; orally active calcilytic agent 324523-20-8
R 568 hydrochloride Positive allosteric modulator of the human calcium-sensing receptor 177172-49-5
Strontium chloride Calcium sensing receptor (CaSR) agonist 10476-85-4

(9) ApexBio Compounds for CASR Gene

Compound Action Cas Number
Calcium-Sensing Receptor Antagonists I CaSR antagonist 478963-79-0
Calhex 231 hydrochloride CasR modulator 652973-93-8
Cinacalcet 226256-56-0
Cinacalcet HCl Calcium-sensing receptor (CaR) agonist 364782-34-3
NPS-2143 CaSR antagonist 284035-33-2
NPS-2143 hydrochloride Calcium ion-sensing receptor antagonist 324523-20-8
R 568 hydrochloride 177172-49-5
Strontium chloride 10476-85-4
Strontium Ranelate 135459-87-9
genes like me logo Genes that share compounds with CASR: view

Transcripts for CASR Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for CASR Gene

(6) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(53) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CASR Gene

Calcium-sensing receptor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CASR
  • R&D Systems cDNA Clones for CASR (Calcium-sensing R/CaSR)

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CASR Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6
SP1:
SP2: -

Relevant External Links for CASR Gene

GeneLoc Exon Structure for
CASR
ECgene alternative splicing isoforms for
CASR

Expression for CASR Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CASR Gene

mRNA expression in normal human tissues for CASR Gene
mRNA expression by BioGPS for CASR GenemRNA expression by GTEx for CASR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CASR Gene

This gene is overexpressed in Pancreas (x24.0) and Kidney - Cortex (x20.6).

Protein differential expression in normal tissues from HIPED for CASR Gene

This gene is overexpressed in Liver, secretome (27.7), Platelet (18.2), and Pancreas (16.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CASR Gene



NURSA nuclear receptor signaling pathways regulating expression of CASR Gene:

CASR

SOURCE GeneReport for Unigene cluster for CASR Gene:

Hs.435615

mRNA Expression by UniProt/SwissProt for CASR Gene:

P41180-CASR_HUMAN
Tissue specificity: Expressed in the temporal lobe, frontal lobe, parietal lobe, hippocampus, and cerebellum. Also found in kidney, lung, liver, heart, skeletal muscle, placenta.

Evidence on tissue expression from TISSUES for CASR Gene

  • Thyroid gland(4.8)
  • Kidney(4.7)
  • Nervous system(4.4)
  • Pancreas(3)
  • Bone(2.1)
  • Intestine(2.1)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CASR Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • parathyroid
  • pituitary gland
  • skull
  • thyroid
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • pelvis
  • rectum
  • ureter
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with CASR: view

Primer Products

No data available for Protein tissue co-expression partners for CASR Gene

Orthologs for CASR Gene

This gene was present in the common ancestor of chordates.

Orthologs for CASR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CASR 34 35
  • 99.35 (n)
dog
(Canis familiaris)
 Mammalia CASR 34 35
  • 90.14 (n)
oppossum
(Monodelphis domestica)
 Mammalia CASR 35
  • 90 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia CASR 34 35
  • 89.83 (n)
mouse
(Mus musculus)
 Mammalia Casr 34 16 35
  • 87.38 (n)
rat
(Rattus norvegicus)
 Mammalia Casr 34
  • 87.32 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia CASR 35
  • 82 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CASR 34 35
  • 80.54 (n)
lizard
(Anolis carolinensis)
 Reptilia CASR 35
  • 84 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100496505 34
  • 74.05 (n)
zebrafish
(Danio rerio)
 Actinopterygii CASR 35
  • 76 (a)
 OneToOne
LOC560607 34
  • 70.67 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 43 (a)
 OneToOne
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.5779 34
Species where no ortholog for CASR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CASR Gene

ENSEMBL:
Gene Tree for CASR (if available)
TreeFam:
Gene Tree for CASR (if available)

Paralogs for CASR Gene

Variants for CASR Gene

Sequence variations from dbSNP and Humsavar for CASR Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs193922423 Pathogenic, Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] 122,275,959(+) AAGTC(A/G)GGTAT reference, missense
rs28936684 Pathogenic, Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200] 122,261,715(+) ATTCC(A/G/T)AGAGG reference, missense
VAR_003585 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
VAR_003586 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
VAR_003587 Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]

Structural Variations from Database of Genomic Variants (DGV) for CASR Gene

Variant ID Type Subtype PubMed ID
dgv8526n54 CNV loss 21841781
dgv8527n54 CNV gain 21841781
esv2677822 CNV deletion 23128226
esv33139 CNV loss 17666407
esv3443020 CNV duplication 20981092
esv3568990 CNV loss 25503493
esv3597604 CNV loss 21293372
nsv1008313 CNV gain 25217958
nsv517368 CNV loss 19592680
nsv591402 CNV loss 21841781

Variation tolerance for CASR Gene

Residual Variation Intolerance Score: 3.17% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.58; 89.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CASR Gene

Human Gene Mutation Database (HGMD)
CASR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CASR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CASR Gene

Disorders for CASR Gene

MalaCards: The human disease database

(43) MalaCards diseases for CASR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypocalcemia, autosomal dominant
  • hypocalcemia, autosomal dominant, with bartter syndrome
hyperparathyroidism, neonatal
  • hyperparathyroidism, neonatal severe
hypocalciuric hypercalcemia, type i
  • hypocalciuric hypercalcemia, familial, type i
epilepsy idiopathic generalized 8
  • epilepsy, idiopathic generalized, susceptibility to, 8
familial hypocalciuric hypercalcemia
  • familial benign hypercalcemia
- elite association - COSMIC cancer census association via MalaCards
Search CASR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CASR_HUMAN
  • Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Seizure types are variable, but include myoclonic seizures, absence seizures, febrile seizures, complex partial seizures, and generalized tonic-clonic seizures. {ECO:0000269 PubMed:18756473}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200]: A disorder characterized by severe hypercalcemia, bone demineralization, and failure to thrive usually manifesting in the first 6 months of life. If untreated, NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without parathyroidectomy. {ECO:0000269 PubMed:15572418, ECO:0000269 PubMed:8675635, ECO:0000269 PubMed:9253359}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]: A disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include mild or asymptomatic hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications. Few patients manifest hypocalcemia and features of Bartter syndrome, including hypomagnesemia, hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronemia. {ECO:0000269 PubMed:10487661, ECO:0000269 PubMed:12050233, ECO:0000269 PubMed:12107202, ECO:0000269 PubMed:12241879, ECO:0000269 PubMed:12574188, ECO:0000269 PubMed:12915654, ECO:0000269 PubMed:15551332, ECO:0000269 PubMed:16608894, ECO:0000269 PubMed:7874174, ECO:0000269 PubMed:8733126, ECO:0000269 PubMed:8813042, ECO:0000269 PubMed:9253358, ECO:0000269 PubMed:9661634, ECO:0000269 PubMed:9920108}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]: A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults. {ECO:0000269 PubMed:11762699, ECO:0000269 PubMed:15572418, ECO:0000269 PubMed:15579740, ECO:0000269 PubMed:15879434, ECO:0000269 PubMed:16598859, ECO:0000269 PubMed:17473068, ECO:0000269 PubMed:17698911, ECO:0000269 PubMed:21643651, ECO:0000269 PubMed:7673400, ECO:0000269 PubMed:7726161, ECO:0000269 PubMed:7916660, ECO:0000269 PubMed:9298824}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Homozygous defects in CASR can be a cause of primary hyperparathyroidism in adulthood. Patients suffer from osteoporosis and renal calculi, have marked hypercalcemia and increased serum PTH concentrations.

Relevant External Links for CASR

Genetic Association Database (GAD)
CASR
Human Genome Epidemiology (HuGE) Navigator
CASR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CASR
genes like me logo Genes that share disorders with CASR: view

No data available for Genatlas for CASR Gene

Publications for CASR Gene

  1. Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor. (PMID: 15531522) Scillitani A. … Cole D.E.C. (J. Clin. Endocrinol. Metab. 2004) 3 4 22 46 64
  2. Persistent secondary hyperparathyroidism and vertebral fractures in kidney transplantation: role of calcium-sensing receptor polymorphisms and vitamin D deficiency. (PMID: 19839774) Giannini S. … Bonfante L. (J. Bone Miner. Res. 2010) 3 22 46 64
  3. Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years. (PMID: 20164288) Guarnieri V. … Hendy G.N. (J. Clin. Endocrinol. Metab. 2010) 3 22 46 64
  4. Vitamin D receptor and calcium-sensing receptor gene polymorphisms in hypercalciuric stone-forming patients. (PMID: 19887834) Ferreira L.G. … Heilberg I.P. (Nephron Clin Pract 2010) 3 22 46 64
  5. Allelic-based gene-gene interaction associated with quantitative traits. (PMID: 19058262) Jung J. … Foroud T.M. (Genet. Epidemiol. 2009) 3 22 46 64

Products for CASR Gene

  • Addgene plasmids for CASR

Sources for CASR Gene

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