CALCR

Chr 7

calcitonin receptor

Also known as: CRT, CT-R, CTR, CTR1

NCBI Gene: 799ENSG00000004948UniProt: P30988

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]

142
ClinVar variants
15
Pathogenic / LP
0.00
pLI score
4
Active trials
Clinical Summary— CALCR
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
15 Pathogenic / Likely Pathogenic· 62 VUS of 142 total submissions
💊
Clinical Trials
4 active or recruiting trials — potential therapeutic options may be available
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.93LOEUF
pLI 0.000
Z-score 1.86
OE 0.63 (0.43–0.93)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.52Z-score
OE missense 0.91 (0.83–1.01)
263 obs / 287.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.63 (0.43–0.93)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.91 (0.83–1.01)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.97
0≤1.21.6
LoF obs/exp: 18 / 28.8Missense obs/exp: 263 / 287.6Syn Z: 0.24

ClinVar Variant Classifications

142 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic14
Likely Pathogenic1
VUS62
Likely Benign9
Benign56
14
Pathogenic
1
Likely Pathogenic
62
VUS
9
Likely Benign
56
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
14
0
14
Likely Pathogenic
0
0
1
0
1
VUS
1
53
8
0
62
Likely Benign
0
6
1
2
9
Benign
0
2
51
3
56
Total161755142

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CALCR · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Amylin receptors as therapeutic targets in obesity: Emerging peptide-based strategies.
Rejili M et al.·Vascul Pharmacol
2026Review
A NOTCH2 pathogenic variant and HES1 regulate osteoclastogenesis in induced pluripotent stem cells.
Canalis E et al.·Bone
2025
Single-Cell Transcriptomic Profiling Reveals KRAS/TP53-Driven Neutrophil Reprogramming in Luad: A Multi-Gene Prognostic Model and Therapeutic Targeting of RHOV.
Ye Y et al.·Oncol Res
2025Functional
Association of calcitonin receptor gene (CALCR) polymorphism with kidney stone disease in the population of West Bengal, India.
Mitra P et al.·Gene
2017
Pleiotropic effects on Sarcopenia subphenotypes point to potential molecular markers for the disease.
Fonseca ID et al.·Arch Gerontol Geriatr
2024
Suppression of Bone Resorption by miR-141 in Aged Rhesus Monkeys.
Yang S et al.·J Bone Miner Res
2018
Fracture, bone mineral density, and the effects of calcitonin receptor gene in postmenopausal Koreans.
Lee HJ et al.·Osteoporos Int
2010
Acute-phase protein serum amyloid A3 is a novel paracrine coupling factor that controls bone homeostasis.
Thaler R et al.·FASEB J
2015
The genetic background of osteoporosis in cystic fibrosis: association analysis with polymorphic markers in four candidate genes.
Castellani C et al.·J Cyst Fibros
2006
Imprinted genes in clinical exome sequencing: Review of 538 cases and exploration of mouse-human conservation in the identification of novel human disease loci.
Bhoj EJ et al.·Eur J Med Genet
2020Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Healthy Volunteer

A Study to Compare Blood Levels of Different Dosage Formulations of the Study Medicine That Is a CGRP Receptor Antagonist in Healthy Adults

RECRUITING
NCT07261371Phase PHASE1PfizerStarted 2025-11-24
Test formulation (Treatment A)Reference formulation (Treatment B)Test formulation (Treatment C)
MigraineEpisodic MigraineChronic Migraine, Headache

Real-world Prospective Study on the Use of Anti-CGRP Drugs in Migraine

RECRUITING
NCT07159750Hospital Universitari Vall d'Hebron Research InstituteStarted 2024-01-02
CGRP antibody or gepant
Vestibular MigraineDizzinessVertigo

Chinese Real-world Study of Treatment of Vestibular Migraine

NOT YET RECRUITING
NCT07203248Second Affiliated Hospital, School of Medicine, Zhejiang UniversityStarted 2025-12
CGRP R Inhibitor; CGRP Inhibitornone-CGRP
Episodic MigraineChronic MigraineMedication Overuse Headache

i-NEED: NEw migrainE Drugs Database

RECRUITING
NCT07103694IRCCS San Raffaele RomaStarted 2022-03-24
anti-CGRP monoclonal antibodiesgepantscombination of sumatriptan and naproxen

External Resources

Links to major genomics databases and tools