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CALCRL calcitonin receptor like receptor [ Homo sapiens (human) ]

Gene ID: 10203, updated on 2-Nov-2024

Summary

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Official Symbol
CALCRLprovided by HGNC
Official Full Name
calcitonin receptor like receptorprovided by HGNC
Primary source
HGNC:HGNC:16709
See related
Ensembl:ENSG00000064989 MIM:114190; AllianceGenome:HGNC:16709
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CRLR; CGRPR; LMPHM8
Summary
Enables adrenomedullin binding activity; adrenomedullin receptor activity; and calcitonin gene-related peptide receptor activity. Involved in several processes, including G protein-coupled receptor signaling pathway; cellular response to sucrose stimulus; and receptor internalization. Located in several cellular components, including endoplasmic reticulum; endosome; and lysosome. Part of CGRP receptor complex and adrenomedullin receptor complex. Implicated in hereditary lymphedema. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in lung (RPKM 41.7), fat (RPKM 35.2) and 20 other tissues See more
Orthologs
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Genomic context

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See CALCRL in Genome Data Viewer
Location:
2q32.1
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (187341964..187448252, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (187831183..187937204, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (188206691..188312979, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene CALCRL and TFPI antisense RNA 1 Neighboring gene uncharacterized LOC124906106 Neighboring gene Sharpr-MPRA regulatory region 15485 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:188089626-188090332 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:188128426-188129109 Neighboring gene RNA, U6 small nuclear 989, pseudogene Neighboring gene Sharpr-MPRA regulatory region 15572 Neighboring gene MPRA-validated peak3978 silencer Neighboring gene MPRA-validated peak3980 silencer Neighboring gene MPRA-validated peak3982 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:188273472-188274250 Neighboring gene Sharpr-MPRA regulatory region 13492 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 59 Neighboring gene MPRA-validated peak3983 silencer Neighboring gene MPRA-validated peak3984 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:188384681-188385366 Neighboring gene Sharpr-MPRA regulatory region 10664 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:188411556-188412755 Neighboring gene tissue factor pathway inhibitor Neighboring gene NANOG hESC enhancer GRCh37_chr2:188422204-188422788 Neighboring gene NANOG hESC enhancer GRCh37_chr2:188422789-188423371 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:188430328-188430906 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:188430907-188431484 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:188480540-188481090 Neighboring gene NANOG hESC enhancer GRCh37_chr2:188483510-188484011 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:188535284-188535785 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:188540495-188541307 Neighboring gene MPRA-validated peak3986 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr2:188565262-188565763 Neighboring gene uncharacterized LOC105373788

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. Transcriptional regulation of the CRLR gene in human microvascular endothelial cells by hypoxia. Nikitenko LL, et al. FASEB J, 2003 Aug. PMID 12824306
  2. The role of ECL2 in CGRP receptor activation: a combined modelling and experimental approach. Woolley MJ, et al. J R Soc Interface, 2013 Nov 6. PMID 24047872, Free PMC Article
  3. The third extracellular loop of the human calcitonin receptor-like receptor is crucial for the activation of adrenomedullin signalling. Kuwasako K, et al. Br J Pharmacol, 2012 May. PMID 22142144, Free PMC Article
  4. Structure-function analysis of helix 8 of human calcitonin receptor-like receptor within the adrenomedullin 1 receptor. Kuwasako K, et al. Peptides, 2011 Jan. PMID 20946927
  5. Investigation of the association between CALCRL polymorphisms and primary angle closure glaucoma. Cao D, et al. Mol Vis, 2009 Oct 27. PMID 19898635, Free PMC Article

See all (104) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Coronary Artery Disease Risk Variant Dampens the Expression of CALCRL by Reducing HSF Binding to Shear Stress Responsive Enhancer in Endothelial Cells In Vitro.
    Title: Coronary Artery Disease Risk Variant Dampens the Expression of CALCRL by Reducing HSF Binding to Shear Stress Responsive Enhancer in Endothelial Cells In Vitro.
  2. CALCRL knockdown suppresses cancer stemness and chemoresistance in acute myeloid leukemia with FLT3-ITD and DNM3TA-R882 double mutations.
    Title: CALCRL knockdown suppresses cancer stemness and chemoresistance in acute myeloid leukemia with FLT3-ITD and DNM3TA-R882 double mutations.
  3. CALCRL induces resistance to daunorubicin in acute myeloid leukemia cells through upregulation of XRCC5/TYK2/JAK1 pathway.
    Title: CALCRL induces resistance to daunorubicin in acute myeloid leukemia cells through upregulation of XRCC5/TYK2/JAK1 pathway.
  4. Identification and validation of CALCRL-associated prognostic genes in acute myeloid leukemia.
    Title: Identification and validation of CALCRL-associated prognostic genes in acute myeloid leukemia.
  5. Short tandem repeat near hypoxia response element (HRE) instead of HRE genetic variants in promoter calcitonin receptor-like receptor (CRLR) gene as risk factor in severe preeclampsia: a preliminary study.
    Title: Short tandem repeat near hypoxia response element (HRE) instead of HRE genetic variants in promoter calcitonin receptor-like receptor (CRLR) gene as risk factor in severe preeclampsia: a preliminary study.
  6. Structure and dynamics of the CGRP receptor in apo and peptide-bound forms.
    Title: Structure and dynamics of the CGRP receptor in apo and peptide-bound forms.
  7. Adrenomedullin-CALCRL axis controls relapse-initiating drug tolerant acute myeloid leukemia cells.
    Title: Adrenomedullin-CALCRL axis controls relapse-initiating drug tolerant acute myeloid leukemia cells.
  8. AM2 signaling is suppressed in adipose tissue in obesity, involving lower receptor expression and ligand availability, likely contributing to insulin resistance and other aspects of the pathophysiology associated with obesity.
    Title: Altered Expression of Adrenomedullin 2 and its Receptor in the Adipose Tissue of Obese Patients.
  9. CRISPR-Cas9-mediated knockout of CALCRL significantly impaired colony formation in human myeloid leukemia cell lines. Overall, our study demonstrates that CALCRL predicts outcome beyond existing risk factors and is a potential therapeutic target in AML.
    Title: The neuropeptide receptor calcitonin receptor-like (CALCRL) is a potential therapeutic target in acute myeloid leukemia.
  10. hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia.
    Title: hCALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia.
Submit: New GeneRIF Correction See all GeneRIFs (68)

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
Lymphatic malformation 8
MedGen: C5231496 OMIM: 618773 GeneReviews: Not available
not available

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

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 G protein-coupled receptor activity TAS
Traceable Author Statement
more info
 PubMed 
enables adrenomedullin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables adrenomedullin receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables adrenomedullin receptor activity IPI
Inferred from Physical Interaction
more info
 PubMed 
enables calcitonin gene-related peptide receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables calcitonin gene-related peptide receptor activity IPI
Inferred from Physical Interaction
more info
 PubMed 
enables calcitonin receptor activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger TAS
Traceable Author Statement
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 IPI
Inferred from Physical 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 adrenomedullin receptor signaling pathway IPI
Inferred from Physical Interaction
more info
 PubMed 
involved_in adrenomedullin receptor signaling pathway NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in angiogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in angiogenesis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in calcitonin gene-related peptide receptor signaling pathway IPI
Inferred from Physical Interaction
more info
 PubMed 
involved_in calcium ion transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cell surface receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to sucrose stimulus IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in heart development IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of vascular associated smooth muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in protein transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in receptor internalization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in vascular associated smooth muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of CGRP receptor complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of adrenomedullin receptor complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of adrenomedullin receptor complex IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of adrenomedullin receptor complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in lysosome IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
colocalizes_with plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
calcitonin gene-related peptide type 1 receptor
Names
CGRP type 1 receptor
calcitonin receptor-like

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.

mRNA and Protein(s)

  1. NM_001271751.2 → NP_001258680.1  calcitonin gene-related peptide type 1 receptor precursor

    See identical proteins and their annotated locations for NP_001258680.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC007319, AC074020, AK292998
    Consensus CDS
    CCDS2293.1
    UniProtKB/Swiss-Prot
    A8K6G5, A8KAD3, Q16602, Q53S02, Q53TS5
    Related
    ENSP00000387190.1, ENST00000410068.5
    Conserved Domains (2) summary
    pfam02793
    Location:62 → 130
    HRM; Hormone receptor domain
    cd15274
    Location:138 → 411
    7tmB1_calcitonin_R; calcitonin receptor, member of the class B family of seven-transmembrane G protein-coupled receptors

  2. NM_001369434.1 → NP_001356363.1  calcitonin gene-related peptide type 1 receptor precursor

    Status: VALIDATED

    Source sequence(s)
    AC007319, AC074020, KF456755
    Consensus CDS
    CCDS2293.1
    UniProtKB/Swiss-Prot
    A8K6G5, A8KAD3, Q16602, Q53S02, Q53TS5
    Related
    ENSP00000386972.1, ENST00000409998.5
    Conserved Domains (2) summary
    pfam02793
    Location:62 → 130
    HRM; Hormone receptor domain
    cd15274
    Location:138 → 411
    7tmB1_calcitonin_R; calcitonin receptor, member of the class B family of seven-transmembrane G protein-coupled receptors

  3. NM_001369435.1 → NP_001356364.1  calcitonin gene-related peptide type 1 receptor precursor

    Status: VALIDATED

    Source sequence(s)
    AC007319, AC074020, KF456755
    Consensus CDS
    CCDS2293.1
    UniProtKB/Swiss-Prot
    A8K6G5, A8KAD3, Q16602, Q53S02, Q53TS5
    Conserved Domains (2) summary
    pfam02793
    Location:62 → 130
    HRM; Hormone receptor domain
    cd15274
    Location:138 → 411
    7tmB1_calcitonin_R; calcitonin receptor, member of the class B family of seven-transmembrane G protein-coupled receptors

  4. NM_005795.6 → NP_005786.1  calcitonin gene-related peptide type 1 receptor precursor

    See identical proteins and their annotated locations for NP_005786.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC007319, AC074020, DA217003, U17473
    Consensus CDS
    CCDS2293.1
    UniProtKB/Swiss-Prot
    A8K6G5, A8KAD3, Q16602, Q53S02, Q53TS5
    Related
    ENSP00000376177.3, ENST00000392370.8
    Conserved Domains (2) summary
    pfam02793
    Location:62 → 130
    HRM; Hormone receptor domain
    cd15274
    Location:138 → 411
    7tmB1_calcitonin_R; calcitonin receptor, member of the class B family of seven-transmembrane G protein-coupled receptors

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    187341964..187448252 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047442888.1 → XP_047298844.1  calcitonin gene-related peptide type 1 receptor isoform X1

  2. XM_005246232.4 → XP_005246289.2  calcitonin gene-related peptide type 1 receptor isoform X1

    See identical proteins and their annotated locations for XP_005246289.2

    Conserved Domains (2) summary
    cd15274
    Location:149 → 422
    7tmB1_calcitonin_R; calcitonin receptor, member of the class B family of seven-transmembrane G protein-coupled receptors
    pfam02793
    Location:73 → 141
    HRM; Hormone receptor domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    187831183..187937204 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340129.1 → XP_054196104.1  calcitonin gene-related peptide type 1 receptor isoform X1

  2. XM_054340128.1 → XP_054196103.1  calcitonin gene-related peptide type 1 receptor isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q16602.3 GenPept UniProtKB/Swiss-Prot:Q16602

Gene LinkOut

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Chemical Information
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