CASR Gene
protein-coding GIFtS: 68
GCID: GC03P121820
|
|
calcium-sensing receptor(Previous name: hypocalciuric hypercalcemia 1 )
(Previous symbols: HHC, HHC1)
| |
Aliases
for CASR gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Calcium-Sensing Receptor1 2 | | EIG82 5 | | GPRC2A1 2 3 | | FIH2 5 | | HHC11 2 5 | | Hypocalciuric Hypercalcemia 11 | | PCAR12 3 5 | | CAR2 | | FHH1 2 | | Extracellular Calcium-Sensing Receptor2 | | HHC1 2 | | Parathyroid Ca(2+)-Sensing Receptor 12 | | NSHPT1 2 | | CaSR3 | | Parathyroid Cell Calcium-Sensing Receptor2 3 | | PCaR13 |
Export aliases for CASR gene to outside databasesPrevious GC identifers: GC03P118638 GC03P123183 GC03P123223 GC03P123385 GC03P119276 |
Summaries
for CASR gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for CASR:
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 changesin circulating calcium concentration and couples this information to intracellular signaling pathways that modify PTHsecretion 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 neonatalsevere primary hyperparathyroidism. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: CASR_HUMAN, P41180Function: Senses changes in the extracellular concentration of calcium ions. The activity of this receptor is mediatedby a G-protein that activates a phosphatidylinositol-calcium second messenger system
 summary
for CASR: Activation of an ERK signaling pathway often involves regulation of cell division, migration and survival;
dysregulation of these pathways has been associated with various diseases, including cancer. ERK signaling
has also been linked to the positive regulation of synaptic plasticity and long-term potentiation (LTP).
Gene Wiki entry for CASR (Calcium-sensing receptor)
|
Genomic Views
for CASR gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_005612.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CASR gene promoter:
AP-1 POU2F1 Pax-5 FOXO4 POU2F1a HFH-1 Ik-3 GATA-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for CASR
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CASR |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3q13 Ensembl cytogenetic band: 3q21.1 HGNC cytogenetic band: 3q21.1CASR Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03P121820: view genomic region
(about GC identifiers)
Start:
|
121,902,530 bp from pter |
End:
|
122,005,344 bp from pter |
Size:
|
102,815 bases |
Orientation:
|
plus strand |
|
Proteins
for CASR gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: CASR_HUMAN, P41180 (See
protein sequence)Recommended Name: Extracellular calcium-sensing receptor precursor Size: 1078 amino acids; 120674 Da
Subunit: Interacts with VCP and RNF19A. Interacts with ARRB1 (By similarity)
Subcellular location: Cell membrane; Multi-pass membrane protein
Secondary accessions: Q13912 Q16108 Q16109 Q16110 Q16379 Q2M1T0 Q4PJ19Alternative splicing: 2 isoforms: P41180-1 P41180-2 Explore the universe of human proteins at neXtProt for CASR: NX_P41180
Post-translational modifications:
N-glycosylated1
Ubiquitinated by RNF19A; which induces proteasomal degradation1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P41180
CASR Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_000379.2 NP_001171536.1
ENSEMBL proteins: ENSP00000418685 ENSP00000420194 ENSP00000296154 Reactome Protein details: P41180
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
CASR for ontologies About GeneDecksing
CASR Antibody Products:
Assay Products for CASR: |
Protein
Domains /
Families
for CASR gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CASR for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P41180ProtoNet protein and cluster: P41180 3 Blocks protein families: IPB000068 Extracellular calcium-sensing receptor signature IPB000337 G-protein coupled receptors family 3 (Metabotropic glutamate receptor-like) IPB001828 Extracellular ligand-binding receptor
UniProtKB/Swiss-Prot: CASR_HUMAN, P41180Similarity: Belongs to the G-protein coupled receptor 3 family |
Function
for CASR gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: CASR_HUMAN, P41180Function: Senses changes in the extracellular concentration of calcium ions. The activity of this receptor is mediatedby a G-protein that activates a phosphatidylinositol-calcium second messenger system Genatlas biochemistry entry for CASR:extracellular calcium sensing receptor gene 1,bovine homolog,expressed in parathyroid cells,C cells of thyroid,alsoexpressed in kidney on the basolateral surface of cells of the thick ascending limbs,and on the luminal surface ofcells of the papillary collecting duct,also expressed in the brain,in pancreatic islet B cells and putatively involvedin the regulation of insulin release,G protein coupled receptor superfamily,activating phospholipase C
Clone
Products: |  | EMD Millipore Clones for the Expression of CASR | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CASR (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CASR (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): CASR (NM_001178065) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CASR | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASR |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASR |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004435 | phosphatidylinositol phospholipase C activity |
TAS | 7874174 | | GO:0004930 | G-protein coupled receptor activity |
IEA | -- | | GO:0005515 | protein binding |
IPI | -- |
CASR for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Casrtm1Ces for CASR
15/16 MGI mutant phenotypes (inferred from 9 alleles ) (MGI details for Casr) (see all 16):
CASR for phenotypes About GeneDecksing
|
Pathways & Interactions
for CASR gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Signaling by GPCR | | | 2 | Class C/3 (Metabotropic glutamate/pheromone receptors) | | | 3 | G alpha (q) signalling events | | | 4 | Class A/1 (Rhodopsin-like receptors) | | | 5 | Proton Pump Inhibitor Pathway, Pharmacodynamics | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2  BioSystems Pathways for CASR
5/8 
Reactome Pathways for CASR (see all 8)
1  PharmGKB Pathway for CASR
CASR for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CASR
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/258 Interacting proteins for CASR (P411801, 3 ENSP000002961544) via UniProtKB, MINT, STRING, and/or I2D (see all 258)About this table
Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table
CASR for ontologies About GeneDecksing
|
Drugs & Compounds
for CASR gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
CASR for compounds About GeneDecksing
Compounds for CASR available from Tocris Bioscience About this table
| Compound | Action |
CAS
# |
|---|
| Calhex 231 | 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 | [284035-33-2] | | R 568 hydrochloride | Positive allosteric modulator of the human calcium-sensing receptor | [177172-49-5] |
1 HMDB Compound for CASR About this table
1 DrugBank Compound for CASR About this table
10/58 Novoseek chemical compound relationships for CASR gene (see all 58) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| cinacalcet |
93.3 |
34 |
15864123 (2), 15794735 (1), 18634360 (1), 15689407 (1) (see all 26) |
| calcium |
84.6 |
1733 |
16316325 (7), 12815330 (7), 17693759 (7), 17054460 (6) (see all 99) |
| vitamin d |
79.9 |
116 |
19621386 (6), 19706842 (3), 10971456 (3), 16109139 (2) (see all 66) |
| calcitriol |
71 |
13 |
18556746 (2), 10372837 (1), 12386262 (1), 18199601 (1) (see all 10) |
| 22-oxacalcitriol |
68.1 |
1 |
11799271 (1) |
| prepro-pth |
67.6 |
1 |
9916869 (1) |
| strontium ranelate |
65.4 |
16 |
19563530 (2), 15985213 (1), 17437947 (1), 18378206 (1) |
| neomycin |
64.6 |
18 |
17537980 (2), 19088423 (2), 18096456 (1), 18577871 (1) (see all 11) |
| phosphorus |
61.7 |
11 |
15794735 (1), 16232374 (1), 19560849 (1), 8076142 (1) (see all 8) |
| sevelamer |
58.3 |
1 |
15669206 (1) |
Search CenterWatch for drugs/clinical trials and news about CASR
|
Transcripts
for CASR gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for CASR gene (2 alternative transcripts): NM_000388.3 NM_001178065.1 Unigene Cluster for CASR: Calcium-sensing receptor Hs.435615 [show with all ESTs]Unigene Representative Sequence: NM_0011780654 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000490131 ENST00000498619(uc003eev.4 uc003eew.4) ENST00000490186
ENST00000296154
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CASR (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CASR (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): CASR (NM_001178065) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CASR | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASR |
Additional cDNA sequence: BC104999.1 BC112236.1 D50855.1 FJ360896.1 S79217.1 S81755.1 S83176.1 U20759.1 U20760.1 5 DOTS entries: DT.91724033 DT.313332 DT.97825513 DT.306656 DT.40259118 24/53 AceView cDNA sequences (see all 53): AA297525 NM_000388 S83176 AA781707 W56898 BV183242 AA724807 AA854191 AI052051 AI434785 D50855 AA862999 AA782127 BM052703 BX100952 AA843293 BF439436 AA844290 AI766210 AI025954 AI079788 AA846660 CD608329 U20759
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for CASR About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 |
|---|
|
| SP1: | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | - | | | | | |
ECgene alternative splicing isoforms for CASR
|
Expression
for CASR gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| CASR expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCTTCGTCAT
About this image
See CASR Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CASR
SOURCE GeneReport for Unigene cluster: Hs.435615
UniProtKB/Swiss-Prot: CASR_HUMAN, P41180Tissue specificity: Expressed in the temporal lobe, frontal lobe, parietal lobe, hippocampus, and cerebellum. Alsofound in kidney, lung, liver, heart, skeletal muscle, placenta
SABiosciences Expression via Pathway-Focused PCR Arrays including CASR:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CASR
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CASR | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CASR | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CASR | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASR |
Orthologs
for CASR gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for CASR gene from 3/15 species (see all 15) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
CASR1 |
calcium-sensing receptor |
80.34(n)
87.45(a) |
|
418266 XM_416491.3 XP_416491.3 |
lizard
(Anolis carolinensis) |
Reptilia |
CASR6 |
-- |
84(a) |
1 ↔ 1 |
GL343218.1(266084-303937) |
zebrafish
(Danio rerio) |
Actinopterygii |
LOC5606071 |
extracellular calcium-sensing receptor-like |
70.46(n)
76.06(a) |
|
560607 XM_684005.2 XP_689097.1 |
ENSEMBL Gene Tree for CASR (if available)
TreeFam Gene Tree for CASR (if available) |
Paralogs
for CASR gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CASR gene
- TAS1R22 TAS1R32 TAS1R12 GPRC6A2
14 SIMAP similar genes for CASR using alignment to 10 protein entries: CASR_HUMAN (see all proteins):GPCR GRM8 GRM2 GRM7 GPRC6A TAS1R1
GRM3 GRM5 GRM4 GRM1 GRM6 TAS1R3
TAS1R2 DKFZp686H1993
CASR for paralogs About GeneDecksing
5/10 Pseudogenes.org Pseudogenes for CASR (see all 10)
PGOHUM00000242293 PGOHUM00000234432 PGOHUM00000234434 PGOHUM00000234453 PGOHUM00000238241
|
Genomic Variants
for CASR gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CASR (121902530 - 122005344 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for CASR
3 CNVs: 50916 7357 91502
Human Gene Mutation Database (HGMD): CASR
Locus Specific Mutation Databases (LSDB): CASR
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CASR |
|
Disorders
/ Diseases
for CASR gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
CASR for disorders About GeneDecksing
OMIM gene information: 601199
OMIM disorders: 145980 239200 146200 612899
UniProtKB/Swiss-Prot: CASR_HUMAN, P41180
Defects in CASR are the cause of familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]. FHH ischaracterized by altered calcium homeostasis. Affected individuals exhibit mild or modest hypercalcemia, relativehypocalciuria, and inappropriately normal PTH levels Defects in CASR are the cause of neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]. NSHPT is arare autosomal recessive life-threatening disorder characterized by very high serum calcium concentrations, skeletaldemineralization, and parathyroid hyperplasia. In some instances NSHPT has been demonstrated to be the homozygous formof FHH Defects in CASR are a cause of familial isolated hypoparathyroidism (FIH) [MIM:146200]; also called autosomaldominant hypoparathyroidism or autosomal dominant hypocalcemia. FIH is characterized by hypocalcemia andhyperphosphatemia due to inadequate secretion of parathyroid hormone. Symptoms are seizures, tetany and cramps. Anautosomal recessive form of FIH also exists Defects in CASR are the cause of epilepsy, idiopathic generalized type 8 (EIG8) [MIM:612899]. A disordercharacterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolicabnormalities. Seizure types are variable, but include myoclonic seizures, absence seizures, febrile seizures, complexpartial seizures, and generalized tonic-clonic seizures Note=Homozygous defects in CASR can be a cause of primary hyperparathyroidism in adulthood. Patients sufferfrom osteoporosis and renal calculi, have marked hypercalcemia and increased serum PTH concentrations
20/113  diseases for CASR (see all 113): About MalaCardshypocalciuric hypercalcemia hypercalcemia familial hypocalciuric hypercalcemia hyperparathyroidism
hypocalcemia, autosomal dominant hypoparathyroidism hypocalcemia, autosomal dominant, with bartter syndrome primary hyperparathyroidism
hypocalciuric hypercalcemia, type i epilepsy, idiopathic generalized, susceptibility to, 8 osteitis fibrosa hypercalciuria, absorptive
familial hypocalciuric hypercalcemia type 1 hyperparathyroidism-jaw tumor syndrome hypocalcemia autoimmune polyendocrine syndrome type 1
autoimmune polyendocrine syndrome multiple endocrine neoplasia hypoparathyroidism, autosomal dominant diabetes insipidus
9 diseases from the University of Copenhagen DISEASES database for CASR:Hyperparathyroidism Hypercalcemia Hypoparathyroidism Kidney disease
Hemochromatosis Hyperphosphatemia Osteoporosis Parathyroid carcinoma
Calcinosis 10/85 Novoseek disease relationships for CASR gene (see all 85) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| hypocalcemia, autosomal dominant |
95.9 |
48 |
15551332 (4), 11013439 (2), 17664687 (2), 11289719 (2) (see all 25) |
| nshpt |
95 |
31 |
17555508 (3), 9253359 (3), 9217223 (2), 9109436 (1) (see all 21) |
| hyperparathyroidism secondary |
90.6 |
38 |
11044218 (2), 19839774 (2), 16109139 (1), 15466262 (1) (see all 31) |
| hypercalcemia |
89.8 |
155 |
10468915 (5), 19694204 (3), 15241791 (3), 11857921 (3) (see all 83) |
| hyperparathyroidism |
87.9 |
79 |
8675635 (2), 16596260 (2), 11668634 (2), 12173690 (2) (see all 49) |
| hypocalcemia |
87.3 |
52 |
8813042 (3), 19915295 (3), 9920108 (2), 16596058 (2) (see all 30) |
| hypoparathyroidism |
86.4 |
75 |
14713274 (3), 15356052 (2), 8813042 (2), 16983178 (2) (see all 44) |
| hyperparathyroidism primary |
82.6 |
30 |
19520070 (4), 19567535 (2), 17853337 (1), 20164288 (1) (see all 21) |
| hypercalciuria |
81.9 |
44 |
17332735 (3), 12239240 (2), 15613438 (2), 8813042 (2) (see all 24) |
| hyperphosphatemia |
78.3 |
2 |
15490408 (1), 19580466 (1) |
Genetic Association Database (GAD): CASR
Human Genome Epidemiology (HuGE) Navigator: CASR (81 documents)
Export disorders for CASR gene to outside databases
|
Publications
for CASR gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
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PubMed articles for CASR gene, integrated from 9 sources (see all 770):
(articles sorted by number of sources associating them with CASR) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor. (PubMed id 15531522)1, 2, 4, 9 Scillitani A....Cole D.E. (2004)
- Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. (PubMed id 14985373)1, 2, 4, 9 Warner J....Cardinal J. (2004)
- Association between total serum calcium and the A986S polymorphism of the calcium-sensing receptor gene. (PubMed id 11161843)1, 2, 4, 9 Cole D.E.C....Rubin L.A. (2001)
- Molecular cloning of a putative Ca(2+)-sensing receptor cDNA from human kidney. (PubMed id 7677761)1, 2, 3 Aida K.... Onaya T. (1995)
- Identification of a novel inactivating R465Q mutation of the calcium- sensing receptor. (PubMed id 16598859)1, 2, 9 Leech C.... Spitzweg C. (2006)
- Expression of a calcium-sensing receptor in a human medullary thyroid carcinoma cell line and its contribution to calcitonin secretion. (PubMed id 8756555)1, 2, 9 Freichel M....Raue F. (1996)
- An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene. (PubMed id 18756473)1, 2, 9 Kapoor A....Anand A. (2008)
- Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia. (PubMed id 15879434)1, 2, 9 Pidasheva S.... Hendy G.N. (2005)
- Association of genetic variants in the calcium-sensing receptor with risk of colorectal adenoma. (PubMed id 15598778)1, 4, 9 Peters U....Hayes R.B. (2004)
- Calcium sensing receptor gene polymorphism, circulating calcium concentrations and bone mineral density in healthy adolescent girls. (PubMed id 11248745)1, 4, 9 Lorentzon M....Nordstrom P. (2001)
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External Searches for CASR gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing CASR gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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Other Databases showing CASR gene
(According to HUGE)
About This Section
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Specialized Databases showing CASR gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for CASR | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CASR | | SeattleSNPs | http://pga.gs.washington.edu/data/casr/ |
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About This Section
| Patent Information for CASR gene:
Search GeneIP for patents involving CASR
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for CASR gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
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| | |  | OriGene Antibodies for CASR | | OriGene shRNA RFP for CASR | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CASR | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CASR | | | OriGene Protein Over-expression Lysate for CASR | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for CASR | | OriGene 3'-UTR Clone for CASR | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CASR | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CASR | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for CASR | | OriGene Custom Protein Services for CASR | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CASR | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CASR | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CASR | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CASR | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CASR | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CASR |
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| | | | Tocris compounds for CASR |
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 | | | CASR Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CASR |
|  |  |  | | | | ThermoFisher Antibody for CASR |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CASR |
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