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

Summary

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: mouse all
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Genomic context

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

SGC31527 (e-PCR)
- UniSTS:80139

SHGC-34224 (e-PCR)
- UniSTS:57876

RH123547 (e-PCR)
- UniSTS:135968

D8S2278 (e-PCR)
- UniSTS:473906

RH70468 (e-PCR)
- UniSTS:74806

CALCRL_7967 (e-PCR)
- UniSTS:468028

SHGC-105313 (e-PCR)
- UniSTS:169281

D2S152 (e-PCR), detects polymorphism
- UniSTS:43344

L18426 (e-PCR)
- UniSTS:34648

D2S1541E (e-PCR)
- UniSTS:150627

SHGC-83539 (e-PCR)
- UniSTS:101748

G66836 (e-PCR)
- UniSTS:166783

A006O27 (e-PCR)
- UniSTS:54656

G32541 (e-PCR)
- UniSTS:117125

A009H16 (e-PCR)
- UniSTS:17829

D2S152 (e-PCR), detects polymorphism
- UniSTS:14025

NoName (e-PCR)
- UniSTS:483040

RH119322 (e-PCR)
- UniSTS:133884

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	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay 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	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
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)

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
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
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
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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

187341964..187448252 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060926.1 Alternate T2T-CHM13v2.0

Range

187831183..187937204 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054340129.1 → XP_054196104.1 calcitonin gene-related peptide type 1 receptor isoform X1
XM_054340128.1 → XP_054196103.1 calcitonin gene-related peptide type 1 receptor isoform X1