The protein encoded by this gene is a plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intracellular signaling pathways that modify parathyroid hormone secretion or renal cation handling, and thus this protein plays an essential role in maintaining mineral ion homeostasis. ... See more...

Aliases for CASR Gene

Aliases for CASR Gene

  • Calcium Sensing Receptor 2 3 5
  • GPRC2A 2 3 4
  • Parathyroid Cell Calcium-Sensing Receptor 1 3 4
  • Extracellular Calcium-Sensing Receptor 3 4
  • NSHPT 2 3
  • PCAR1 3 4
  • HCasR 3 4
  • FHH 2 3
  • Parathyroid Ca(2+)-Sensing Receptor 1 3
  • Severe Neonatal Hyperparathyroidism 2
  • Hypocalciuric Hypercalcemia 1 2
  • Calcium-Sensing Receptor 2
  • HYPOC1 3
  • PCaR1 4
  • EIG8 3
  • HHC1 3
  • CASR 5
  • CaSR 4
  • CAR 3
  • FIH 3
  • HHC 3
  • CaR 4

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 plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intracellular signaling pathways that modify parathyroid hormone secretion or renal cation handling, and thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene are a cause of familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. [provided by RefSeq, Aug 2017]

GeneCards Summary for CASR Gene

CASR (Calcium Sensing Receptor) is a Protein Coding gene. Diseases associated with CASR include Hypocalcemia, Autosomal Dominant 1 and Hypocalciuric Hypercalcemia, Familial, Type I. Among its related pathways are Signaling by GPCR and Taste transduction. Gene Ontology (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 Summary for CASR Gene

  • G-protein-coupled receptor that senses changes in the extracellular concentration of calcium ions and plays a key role in maintaining calcium homeostasis (PubMed:7759551, PubMed:8702647, PubMed:8636323, PubMed:8878438, PubMed:17555508, PubMed:19789209, PubMed:21566075, PubMed:22114145, PubMed:23966241, PubMed:25292184, PubMed:25104082, PubMed:26386835, PubMed:25766501, PubMed:22789683). Senses fluctuations in the circulating calcium concentration and modulates the production of parathyroid hormone (PTH) in parathyroid glands (By similarity). The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system (PubMed:7759551). The G-protein-coupled receptor activity is activated by a co-agonist mechanism: aromatic amino acids, such as Trp or Phe, act concertedly with divalent cations, such as calcium or magnesium, to achieve full receptor activation (PubMed:27434672, PubMed:27386547).

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 , Rfam classification and piRNA Summary for CASR Gene

Genomics for CASR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CASR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J122183 Promoter/Enhancer 0.6 EPDnew Ensembl 250.7 +0.0 38 0.3 IKZF1 CASR piR-54496-013 CSTA
GH03J122184 Promoter 0.5 Ensembl 250.7 +0.6 633 0.6 IKZF1 EZH2 CASR CSTA IQCB1 piR-54496-013
GH03J122099 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -81.9 -81885 5.2 BCLAF1 SP1 ZNF654 BCL11A CTCF REST ZNF592 TRIM22 ZNF217 RXRA CSTA CD86 ILDR1 ENSG00000202388 CASR POLQ PARP9 DTX3L HCLS1 EAF2
GH03J122362 Promoter/Enhancer 1.5 Ensembl ENCODE 9.3 +181.4 181370 4.6 BCLAF1 NCOR1 CEBPA ATF3 CHD4 YY1 BCL11A FOXA1 TRIM22 HOMEZ lnc-WDR5B-1 WDR5B-DT GOLGB1 IQCB1 SEC22A WDR5B CSTA RPL7AP11 CASR HSALNG0028489
GH03J122232 Enhancer 1 FANTOM5 ENCODE 11.2 +49.7 49709 2 SP1 BCL11A TRIM22 IRF4 EBF1 SMARCA5 BHLHE40 ZBTB40 SPI1 MYC CASR IQCB1 CD86 PARP14 PARP9 DTX3L KPNA1 GOLGB1 CSTA piR-53063-148
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CASR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CASR

Top Transcription factor binding sites by QIAGEN in the CASR gene promoter:
  • AP-1
  • FOXO4
  • GATA-1
  • HFH-1
  • Ik-3
  • Pax-5
  • POU2F1
  • POU2F1a

Genomic Locations for CASR Gene

Latest Assembly
chr3:122,183,668-122,291,629
(GRCh38/hg38)
Size:
107,962 bases
Orientation:
Plus strand

Previous Assembly
chr3:121,902,515-122,010,476
(GRCh37/hg19 by Entrez Gene)
Size:
107,962 bases
Orientation:
Plus strand

chr3:121,902,530-122,005,342
(GRCh37/hg19 by Ensembl)
Size:
102,813 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 StructureGene Density

RefSeq DNA sequence for CASR Gene

Proteins for CASR Gene

  • 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:
    120675 Da
    Quaternary structure:
    • Homodimer; disulfide-linked (PubMed:27434672, PubMed:27386547, PubMed:16740594). Interacts with VCP and RNF19A (PubMed:16513638). Interacts with ARRB1 (By similarity).
    SequenceCaution:
    • Sequence=AAB29413.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CASR Gene

    Alternative splice isoforms for CASR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CASR Gene

Post-translational modifications for CASR Gene

  • N-glycosylated.
  • Ubiquitinated by RNF19A; which induces proteasomal degradation.
  • Glycosylation at Asn90, Asn130, Asn261, Asn287, Asn386, Asn400, Asn446, Asn468, Asn488, Asn541, and Asn594
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Antibodies for research

  • 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 :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • G-protein coupled receptors
  • Plasma proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for CASR Gene

InterPro:
Blocks:
  • G-protein coupled receptors family 3 (Metabotropic glutamate receptor-like)
  • Extracellular ligand-binding receptor
  • Extracellular calcium-sensing receptor signature

Suggested Antigen Peptide Sequences for CASR Gene

GenScript: Design optimal peptide antigens:
  • Extracellular calcium-sensing receptor (B6VB31_HUMAN)
  • Parathyroid cell calcium-sensing receptor (CASR_HUMAN)
  • Calcium sensing receptor (Q2F3K1_HUMAN)
  • Calcium sensing receptor (Q2F3K2_HUMAN)
  • Calcium sensing receptor (Q2F3K3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P41180

UniProtKB/Swiss-Prot:

CASR_HUMAN :
  • The extracellular regions of the homodimer interact in a side-by-side fashion while facing opposite directions (PubMed:27434672, PubMed:27386547). Each extracellular region consists of three domains, LB1 (ligand-binding 1), LB2 and CR (cysteine-rich) (PubMed:17360426). The two lobe-shaped domains LB1 and LB2 form a venus flytrap module (PubMed:27434672, PubMed:27386547). In the inactive configuration, the venus flytrap modules of both protomers are in the open conformation associated with the resting state (open-open) and the interdomain cleft is empty (PubMed:27434672). In addition, each protomer contains three anions, which reinforce the inactive conformation, and one calcium ion (PubMed:27434672). In the active configuration, both protomers of extracellular regions have the closed conformation associated with agonist-binding (closed-closed) (PubMed:27434672, PubMed:27386547). The ligand-binding cleft of each protomer is solely occupied by an aromatic amino-acid (PubMed:27434672, PubMed:27386547). Calcium is bound at four novel sites, including one at the homodimer interface (PubMed:27434672, PubMed:27386547). Agonist-binding induces large conformational changes within the extracellular region homodimer: first, the venus flytrap module of each protomer undergoes domain closure (PubMed:27434672, PubMed:27386547). Second, the LB2 regions of the two protomers approach each other, resulting in an expansion of the homodimer interactions involving LB2 domains (PubMed:27434672, PubMed:27386547). Third, the CR regions of the two subunits interact to form a large homodimer interface that is unique to the active state (PubMed:27434672, PubMed:27386547). The CR regions are brought into close contact by the motion involving LB2 since the two domains are rigidly associated within each subunit (PubMed:27434672, PubMed:27386547).
  • Belongs to the G-protein coupled receptor 3 family.
Domain:
  • The extracellular regions of the homodimer interact in a side-by-side fashion while facing opposite directions (PubMed:27434672, PubMed:27386547). Each extracellular region consists of three domains, LB1 (ligand-binding 1), LB2 and CR (cysteine-rich) (PubMed:17360426). The two lobe-shaped domains LB1 and LB2 form a venus flytrap module (PubMed:27434672, PubMed:27386547). In the inactive configuration, the venus flytrap modules of both protomers are in the open conformation associated with the resting state (open-open) and the interdomain cleft is empty (PubMed:27434672). In addition, each protomer contains three anions, which reinforce the inactive conformation, and one calcium ion (PubMed:27434672). In the active configuration, both protomers of extracellular regions have the closed conformation associated with agonist-binding (closed-closed) (PubMed:27434672, PubMed:27386547). The ligand-binding cleft of each protomer is solely occupied by an aromatic amino-acid (PubMed:27434672, PubMed:27386547). Calcium is bound at four novel sites, including one at the homodimer interface (PubMed:27434672, PubMed:27386547). Agonist-binding induces large conformational changes within the extracellular region homodimer: first, the venus flytrap module of each protomer undergoes domain closure (PubMed:27434672, PubMed:27386547). Second, the LB2 regions of the two protomers approach each other, resulting in an expansion of the homodimer interactions involving LB2 domains (PubMed:27434672, PubMed:27386547). Third, the CR regions of the two subunits interact to form a large homodimer interface that is unique to the active state (PubMed:27434672, PubMed:27386547). The CR regions are brought into close contact by the motion involving LB2 since the two domains are rigidly associated within each subunit (PubMed:27434672, PubMed:27386547).
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

Molecular function for CASR Gene

UniProtKB/Swiss-Prot Function:
G-protein-coupled receptor that senses changes in the extracellular concentration of calcium ions and plays a key role in maintaining calcium homeostasis (PubMed:7759551, PubMed:8702647, PubMed:8636323, PubMed:8878438, PubMed:17555508, PubMed:19789209, PubMed:21566075, PubMed:22114145, PubMed:23966241, PubMed:25292184, PubMed:25104082, PubMed:26386835, PubMed:25766501, PubMed:22789683). Senses fluctuations in the circulating calcium concentration and modulates the production of parathyroid hormone (PTH) in parathyroid glands (By similarity). The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system (PubMed:7759551). The G-protein-coupled receptor activity is activated by a co-agonist mechanism: aromatic amino acids, such as Trp or Phe, act concertedly with divalent cations, such as calcium or magnesium, to achieve full receptor activation (PubMed:27434672, PubMed:27386547).
UniProtKB/Swiss-Prot EnzymeRegulation:
In resting state, adopts an open conformation, anion-binding promoting the inactive configuration (PubMed:27434672). Upon aromatic amino acid-binding, the groove in the extracellular venus flytrap module is closed, thereby inducing the formation of a novel homodimer interface between subunits (PubMed:27434672, PubMed:27386547). Calcium ions stabilize the active state by enhancing homodimer interactions between membrane-proximal domains to fully activate the receptor (PubMed:27434672, PubMed:27386547). Activated by AMG 416, a D-amino acid-containing peptide agonist that is being evaluated for the treatment of secondary hyperparathyroidism in chronic kidney disease patients receiving hemodialysis (PubMed:26290606). AMG 416 agonist acts by forming a disulfide bond with Cys-482 (PubMed:26290606).
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

Phenotypes From GWAS Catalog for CASR Gene

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:0004930 G protein-coupled receptor activity IEA,IDA 27434672
GO:0005178 integrin binding IEA --
GO:0005509 calcium ion binding IBA,IDA 27434672
GO:0005515 protein binding IPI 20361938
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:
  • Casr Casr<tm1b(KOMP)Mbp>
  • Casr Casr<tm1Ces>

miRNA for CASR Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CASR

Clone products for research

  • Addgene plasmids for CASR

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
extracellular 3
cytoskeleton 3
nucleus 3
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 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 IEA,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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CASR Gene

Pathways & Interactions for CASR Gene

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

SIGNOR curated interactions for CASR Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CASR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IEA --
GO:0002931 response to ischemia IEA --
GO:0005513 detection of calcium ion TAS,IDA 27434672
GO:0006874 cellular calcium ion homeostasis IEA,IDA 27434672
GO:0006915 apoptotic process IEA --
genes like me logo Genes that share ontologies with CASR: view

Drugs & Compounds for CASR Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cinacalcet Approved Pharma Allosteric regulator, Positive, Target, agonist 79
Strontium ranelate Approved, Withdrawn Pharma 7
Strontium chloride Approved Pharma Calcium sensing receptor (CaSR) agonist 0
Tryptophan Approved, Withdrawn Nutra Allosteric regulator, Positive, binder 106
Neomycin Approved, Vet_approved Pharma Target 58

(25) 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
Allosteric regulator, Positive

(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

Drug products for research

Transcripts for CASR Gene

mRNA/cDNA for CASR Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CASR

Clone products for research

  • Addgene plasmids for CASR

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

Expression for CASR Gene

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.5)
  • Pancreas(3.2)
  • Bone(2.4)
  • Intestine(2.3)
  • Blood(2.2)
  • Muscle(2.2)
  • Urine(2.1)
  • Stomach(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
Regions:
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 for research

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 29 30
  • 99.35 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CASR 29 30
  • 90.14 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CASR 30
  • 90 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CASR 29 30
  • 89.83 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Casr 29 16 30
  • 87.38 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Casr 29
  • 87.32 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CASR 30
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CASR 29 30
  • 80.54 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CASR 30
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100496505 29
  • 74.05 (n)
Zebrafish
(Danio rerio)
Actinopterygii CASR 30
  • 76 (a)
OneToOne
LOC560607 29
  • 70.67 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 43 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5779 29
Species where no ortholog for CASR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for CASR: view image
Alliance of Genome Resources:
Additional Orthologs for CASR

Paralogs for CASR Gene

Paralogs for CASR Gene

(13) SIMAP similar genes for CASR Gene using alignment to 10 proteins:

  • CASR_HUMAN
  • B6VB31_HUMAN
  • E7ENE0_HUMAN
  • Q2F3K1_HUMAN
  • Q2F3K2_HUMAN
  • Q2F3K3_HUMAN
  • Q2F3K4_HUMAN
  • Q2F3K5_HUMAN
  • Q2F3K6_HUMAN
  • Q86UN7_HUMAN
genes like me logo Genes that share paralogs with CASR: view

Variants for CASR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CASR Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
1000207 Uncertain Significance: Hypocalcemia, autosomal dominant 1; Familial hypocalciuric hypercalcemia 122,257,295(+) C/T
NM_000388.4(CASR):c.400C>T (p.His134Tyr)
MISSENSE
1001315 Uncertain Significance: Hypocalcemia, autosomal dominant 1; Familial hypocalciuric hypercalcemia 122,284,949(+) G/A
NM_000388.4(CASR):c.2995G>A (p.Glu999Lys)
MISSENSE
1001478 Uncertain Significance: Hypocalcemia, autosomal dominant 1; Familial hypocalciuric hypercalcemia 122,262,246(+) T/G
NM_000388.4(CASR):c.1211T>G (p.Val404Gly)
MISSENSE
1001698 Uncertain Significance: Hypocalcemia, autosomal dominant 1; Familial hypocalciuric hypercalcemia 122,283,906(+) C/A
NM_000388.4(CASR):c.1952C>A (p.Ser651Tyr)
MISSENSE
1002813 Uncertain Significance: Hypocalcemia, autosomal dominant 1; Familial hypocalciuric hypercalcemia 122,283,757(+) G/A
NM_000388.4(CASR):c.1803G>A (p.Lys601=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CASR Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for CASR Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for CASR Gene

MalaCards: The human disease database

(78) MalaCards diseases for CASR Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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
  • 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:16740594, ECO:0000269 PubMed:17473068, ECO:0000269 PubMed:17698911, ECO:0000269 PubMed:19179454, ECO:0000269 PubMed:19789209, ECO:0000269 PubMed:21566075, ECO:0000269 PubMed:21643651, ECO:0000269 PubMed:22114145, ECO:0000269 PubMed:23169696, ECO:0000269 PubMed:23966241, ECO:0000269 PubMed:25104082, ECO:0000269 PubMed:25292184, ECO:0000269 PubMed:26386835, ECO:0000269 PubMed:27434672, ECO:0000269 PubMed:7673400, ECO:0000269 PubMed:7726161, ECO:0000269 PubMed:7916660, ECO:0000269 PubMed:8636323, ECO:0000269 PubMed:8702647, ECO:0000269 PubMed:8878438, ECO:0000269 PubMed:9298824}. Note=The disease is caused by variants 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:14985373, ECO:0000269 PubMed:15572418, ECO:0000269 PubMed:17555508, ECO:0000269 PubMed:27434672, ECO:0000269 PubMed:8675635, ECO:0000269 PubMed:8878438, ECO:0000269 PubMed:9253359}. Note=The disease is caused by variants 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:19179454, ECO:0000269 PubMed:22789683, ECO:0000269 PubMed:23169696, ECO:0000269 PubMed:23966241, ECO:0000269 PubMed:25766501, ECO:0000269 PubMed:7874174, ECO:0000269 PubMed:8702647, ECO:0000269 PubMed:8733126, ECO:0000269 PubMed:8813042, ECO:0000269 PubMed:8878438, ECO:0000269 PubMed:9253358, ECO:0000269 PubMed:9661634, ECO:0000269 PubMed:9920108}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • 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 variants affecting the gene represented in this entry.

Additional Disease Information for CASR

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CASR: view

No data available for Genatlas for CASR Gene

Publications for CASR Gene

  1. Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. (PMID: 19179454) Cole DE … Hendy GN (Journal of molecular endocrinology 2009) 3 4 22 40
  2. An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene. (PMID: 18756473) Kapoor A … Anand A (Annals of neurology 2008) 3 4 22 72
  3. Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor. (PMID: 15531522) Scillitani A … Cole DE (The Journal of clinical endocrinology and metabolism 2004) 3 4 22 40
  4. A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia. (PMID: 9920108) Okazaki R … Fukumoto S (The Journal of clinical endocrinology and metabolism 1999) 3 4 22 72
  5. Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. (PMID: 8675635) Pearce SH … Whyte MP (The Journal of clinical investigation 1995) 3 4 22 72

Products for CASR Gene

  • Addgene plasmids for CASR

Sources for CASR Gene