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CALCRL

Chr 2q32.1

calcitonin receptor like receptor

Aliases:
CGRPR, CRLR
MANE:
ENST00000392370.8
OMIM: 114190 ↗NCBI: 10203 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • migraine disorder

    0.61

  • hypertensive disorder

    0.44

  • lymphatic malformation 8

    0.42

  • essential hypertension

    0.41

  • Non-immune hydrops fetalis

    0.37

  • obesity disorder

    0.37

  • hyperprolactinemia

    0.37

  • Increased circulating prolactin concentration

    0.37

  • coronary artery disorder

    0.34

  • venous thromboembolism

    0.33

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Calcitonin gene-related peptide type 1 receptor

G protein-coupled receptor which specificity is determined by its interaction with receptor-activity-modifying proteins (RAMPs) (PubMed:32296767, PubMed:33602864, PubMed:8626685). Together with RAMP1, form the receptor complex for calcitonin-gene-related peptides CALCA/CGRP1 and CALCB/CGRP2 (PubMed:33602864). Together with RAMP2 or RAMP3, function as receptor complexes for adrenomedullin (ADM and ADM2) (PubMed:32296767, PubMed:9620797). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors. Activates cAMP-dependent pathway (PubMed:32296767, PubMed:8626685)

Diseases associated with CALCRL

Curated MONDO disease pages that list CALCRL among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.