Gene Gene information from NCBI Gene database.
Entrez ID 799
Gene name Calcitonin receptor
Gene symbol CALCR
Synonyms (NCBI Gene)
CRTCT-RCTRCTR1
Chromosome 7
Chromosome location 7q21.3
Summary This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating oste
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1801197 A>G Risk-factor Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
66
miRTarBase ID miRNA Experiments Reference
MIRT438265 hsa-miR-29a-3p Luciferase reporter assay 24085298
MIRT438265 hsa-miR-29a-3p Luciferase reporter assay 24085298
MIRT485747 hsa-miR-548c-3p PAR-CLIP 23592263
MIRT485746 hsa-miR-4668-3p PAR-CLIP 23592263
MIRT485745 hsa-miR-4760-3p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
58
GO ID Ontology Definition Evidence Reference
GO:0001503 Process Ossification IEA
GO:0001540 Function Amyloid-beta binding IDA 22500019
GO:0001635 Function Calcitonin gene-related peptide receptor activity IDA 38603770
GO:0001635 Function Calcitonin gene-related peptide receptor activity IPI 14722252
GO:0001669 Component Acrosomal vesicle IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
114131 1440 ENSG00000004948
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P30988
Protein name Calcitonin receptor (CT-R)
Protein function G protein-coupled receptor activated by ligand peptides amylin (IAPP), calcitonin (CT/CALCA) and calcitonin gene-related peptide type 1 (CGRP1/CALCA) (PubMed:35324283, PubMed:38603770). CALCR interacts with receptor-activity-modifying proteins R
PDB 5II0 , 5UZ7 , 6NIY , 6PFO , 6PGQ , 7TYF , 7TYH , 7TYI , 7TYL , 7TYN , 7TYO , 7TYW , 7TYX , 7TYY , 7TZF , 8F0J , 8F0K , 8F2A , 8F2B , 9AUC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02793 HRM 69 137 Hormone receptor domain Family
PF00002 7tm_2 145 387 7 transmembrane receptor (Secretin family) Family
Sequence
Sequence length 474
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Neuroactive ligand-receptor interaction
Hormone signaling
Osteoclast differentiation
  G alpha (s) signalling events
Calcitonin-like ligand receptors
ADORA2B mediated anti-inflammatory cytokines production
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
11
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15 Benign rs1801197 RCV000019203
CALCR-related disorder Benign; Likely benign rs2301680, rs143764918, rs780870954, rs142016257, rs140388547, rs147503225, rs1801197, rs142718250 RCV003984063
RCV003909228
RCV003897391
RCV003931690
RCV003961448
RCV003937085
RCV003974841
RCV003910579
Colon adenocarcinoma Benign rs10269878 RCV005922356
Lung cancer Benign rs10269878 RCV005922357
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 40486872
Bone Diseases Associate 26895962, 29084126
Bone Resorption Associate 10620070
Breast Neoplasms Associate 6309149
Calcinosis Cutis Associate 23820954
Carcinoma Squamous Cell Associate 28177435
Cholangiocarcinoma Associate 36142453
Creatine deficiency X linked Associate 28049948, 38104212
Diabetes Mellitus Associate 26895962, 28614667
Endocarditis Associate 28659664