CALCR calcitonin receptor [Homo sapiens (human)] - Gene

Summary

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

Location:: 7q21.3

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (93424486..93574724, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (94666953..94817060, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (93053798..93204036, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Calcitonin/PAC1 receptor splice variants: a blind spot in migraine research.
Title: Calcitonin/PAC(1) receptor splice variants: a blind spot in migraine research.
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.
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.
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.
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.
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.
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.
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.
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.
CTR activates AKAP2-anchored cAMP-dependent protein kinase A, which then phosphorylates tight junction proteins ZO-1 and claudin 3.
Title: Calcitonin receptor increases invasion of prostate cancer cells by recruiting zonula occludens-1 and promoting PKA-mediated TJ disassembly.

Submit: New GeneRIF Correction See all GeneRIFs (44)

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:1317942 (e-PCR)
- UniSTS:44301

GDB:1317880 (e-PCR)
- UniSTS:59690

NoName (e-PCR)
- UniSTS:480599

G59766 (e-PCR)
- UniSTS:137060

D7S2736 (e-PCR)
- UniSTS:67979

CALCR (e-PCR)
- UniSTS:262838

CALCR (e-PCR)
- UniSTS:22454

NoName (e-PCR)
- UniSTS:486342

SHGC-144374 (e-PCR)
- UniSTS:184524

NoName (e-PCR)
- UniSTS:482296

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 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
NOT involved_in activation of adenylate cyclase activity	IDA Inferred from Direct Assay more info	PubMed
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 cell surface receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cross-receptor inhibition within G protein-coupled receptor heterodimer	IPI Inferred from Physical Interaction more info	PubMed
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 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 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 positive regulation of protein kinase A signaling	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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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

NG_013005.1 RefSeqGene

Range

5007..155245

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1037

mRNA and Protein(s)

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
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
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