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    CALCR calcitonin receptor [ Homo sapiens (human) ]

    Gene ID: 799, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CALCRprovided by HGNC
    Official Full Name
    calcitonin receptorprovided by HGNC
    Primary source
    HGNC:HGNC:1440
    See related
    Ensembl:ENSG00000004948 MIM:114131; AllianceGenome:HGNC:1440
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CRT; CTR; CT-R; CTR1
    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 osteoclast-mediated bone resorption. Polymorphisms in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See CALCR in Genome Data Viewer
    Location:
    7q21.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (93424486..93574724, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (94666953..94817060, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (93053798..93204036, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene HEPACAM family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26281 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26283 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:92890341-92890842 Neighboring gene VPS50 subunit of EARP/GARPII complex Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:93025621-93026134 Neighboring gene microRNA 653 Neighboring gene microRNA 489 Neighboring gene uncharacterized LOC105375400 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:93269066-93269819 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:93273367-93274230 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:93274231-93275094 Neighboring gene ribosomal protein S27 pseudogene 17 Neighboring gene microRNA 4652

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Importance of the amino terminus in secretin family G protein-coupled receptors. Intrinsic photoaffinity labeling establishes initial docking constraints for the calcitonin receptor. Dong M, et al. J Biol Chem, 2004 Jan 9. PMID 14583624
    2. An isoform of the human calcitonin receptor is expressed in TT cells and in medullary carcinoma of the thyroid. Frendo JL, et al. FEBS Lett, 1994 Apr 4. PMID 8143880
    3. Allelic variants of human calcitonin receptor: distribution and association with bone mass in postmenopausal Italian women. Masi L, et al. Biochem Biophys Res Commun, 1998 Apr 17. PMID 9571205
    4. Calcitonin receptor polymorphism is associated with a decreased fracture risk in post-menopausal women. Taboulet J, et al. Hum Mol Genet, 1998 Dec. PMID 9817931
    5. A novel calcitonin receptor gene in human osteoclasts from normal bone marrow. Nishikawa T, et al. FEBS Lett, 1999 Sep 24. PMID 10570950

    See all (105) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CALCR exacerbates renal cell carcinoma progression via stabilizing CD44.
      Title: CALCR exacerbates renal cell carcinoma progression via stabilizing CD44.
    2. Calcitonin/PAC1 receptor splice variants: a blind spot in migraine research.
      Title: Calcitonin/PAC(1) receptor splice variants: a blind spot in migraine research.
    3. Polymorphisms in Genes Encoding VDR, CALCR and Antioxidant Enzymes as Predictors of Bone Tissue Condition in Young, Healthy Men.
      Title: Polymorphisms in Genes Encoding VDR, CALCR and Antioxidant Enzymes as Predictors of Bone Tissue Condition in Young, Healthy Men.
    4. Association of TRPV5, CASR, and CALCR genetic variants with kidney stone disease susceptibility in Egyptians through main effects and gene-gene interactions.
      Title: Association of TRPV5, CASR, and CALCR genetic variants with kidney stone disease susceptibility in Egyptians through main effects and gene-gene interactions.
    5. Copper(II) import and reduction are dependent on His-Met clusters in the extracellular amino terminus of human copper transporter-1.
      Title: Copper(II) import and reduction are dependent on His-Met clusters in the extracellular amino terminus of human copper transporter-1.
    6. Dynamical interplay between the human high-affinity copper transporter hCtr1 and its cognate metal ion.
      Title: Dynamical interplay between the human high-affinity copper transporter hCtr1 and its cognate metal ion.
    7. Gender-Dependent Reference Range of Serum Calcitonin Levels in Healthy Korean Adults.
      Title: Gender-Dependent Reference Range of Serum Calcitonin Levels in Healthy Korean Adults.
    8. Genetic Depletion of Amylin/Calcitonin Receptors Improves Memory and Learning in Transgenic Alzheimer's Disease Mouse Models.
      Title: Genetic Depletion of Amylin/Calcitonin Receptors Improves Memory and Learning in Transgenic Alzheimer's Disease Mouse Models.
    9. CALCR knockdown inhibits the development and progression of non-small-cell lung cancer.
      Title: CALCR knockdown inhibits the development and progression of non-small-cell lung cancer.
    10. CALCR rs1801197 might be associated with increased risk of calcium stone urolithiasis. There is insufficient data to fully confirm the association between CALCR rs1042138 and calcium stone urolithiasis susceptibility (Meta-Analysis)
      Title: Association between calcitonin receptor gene polymorphisms and calcium stone urolithiasis: A meta-analysis.
    Submit: New GeneRIF Correction See all GeneRIFs (45)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Osteoporosis
    MedGen: C0029456 OMIM: 166710 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat and RANKL/M-CSF enhance osteoclast differentiation and activity by increasing osteoclast differentiation markers, such as cathepsin K and calcitonin receptor PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables amylin receptor activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    enables amylin receptor activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables amyloid-beta binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT enables calcitonin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcitonin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcitonin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables calcitonin gene-related peptide receptor activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables calcitonin receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcitonin receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in amylin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in amylin receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in calcitonin gene-related peptide receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cell surface receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of ossification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ossification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in osteoclast differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of ERK1 and ERK2 cascade IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of cAMP/PKA signal transduction IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of calcium-mediated signaling IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of cytosolic calcium ion concentration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cytosolic calcium ion concentration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of gene expression IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in regulation of mRNA stability IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to amyloid-beta IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in response to glucocorticoid IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of amylin receptor complex 1 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of amylin receptor complex 2 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of amylin receptor complex 3 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    calcitonin receptor

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013005.1 RefSeqGene

      Range
      5007..155245
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1037

    mRNA and Protein(s)

    1. NM_001164737.3 → NP_001158209.2  calcitonin receptor isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC003078, AK313996, L00587
      Consensus CDS
      CCDS55125.2
      UniProtKB/TrEMBL
      A0A0A0MSQ7, D8MIV1
      Related
      ENSP00000497687.1, ENST00000649521.1
      Conserved Domains (2) summary
      pfam02793
      Location:69 → 137
      HRM; Hormone receptor domain
      cd15274
      Location:145 → 424
      7tmB1_calcitonin_R; calcitonin receptor, member of the class B family of seven-transmembrane G protein-coupled receptors

    2. NM_001164738.2 → NP_001158210.1  calcitonin receptor isoform 2 precursor

      See identical proteins and their annotated locations for NP_001158210.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AB022178, AC003078
      Consensus CDS
      CCDS5631.1
      UniProtKB/Swiss-Prot
      A0A0C4DG16, A4D1G6, F5H605, O14585, P30988, Q13941, Q5ZGL8, Q659U6, Q6DJU8, Q6T712
      UniProtKB/TrEMBL
      D8MIV1
      Related
      ENSP00000377959.1, ENST00000394441.5
      Conserved Domains (2) summary
      pfam00002
      Location:145 → 387
      7tm_2; 7 transmembrane receptor (Secretin family)
      pfam02793
      Location:69 → 137
      HRM; Hormone receptor domain

    3. NM_001742.4 → NP_001733.1  calcitonin receptor isoform 2 precursor

      See identical proteins and their annotated locations for NP_001733.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AC003078, AC005024, AK313996
      Consensus CDS
      CCDS5631.1
      UniProtKB/Swiss-Prot
      A0A0C4DG16, A4D1G6, F5H605, O14585, P30988, Q13941, Q5ZGL8, Q659U6, Q6DJU8, Q6T712
      UniProtKB/TrEMBL
      D8MIV1
      Related
      ENSP00000389295.1, ENST00000426151.7
      Conserved Domains (2) summary
      pfam00002
      Location:145 → 387
      7tm_2; 7 transmembrane receptor (Secretin family)
      pfam02793
      Location:69 → 137
      HRM; Hormone receptor domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      93424486..93574724 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      94666953..94817060 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P30988.4 GenPept UniProtKB/Swiss-Prot:P30988

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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