Entity Details

Primary name CALCRL
Entity type gene
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Details

PrimaryID10203
RefseqGene
SymbolCALCRL
Namecalcitonin receptor like receptor
Chromosome2
Location2q32.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-06-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCALRL_HUMAN

GO terms

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GOName
GO:0001525 angiogenesis
GO:0001605 adrenomedullin receptor activity
GO:0001635 calcitonin gene-related peptide receptor activity
GO:0002862 negative regulation of inflammatory response to antigenic stimulus
GO:0004930 G protein-coupled receptor activity
GO:0004948 calcitonin receptor activity
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005768 endosome
GO:0005783 endoplasmic reticulum
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006816 calcium ion transport
GO:0007166 cell surface receptor signaling pathway
GO:0007186 G protein-coupled receptor signaling pathway
GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger
GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway
GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway
GO:0007507 heart development
GO:0008528 G protein-coupled peptide receptor activity
GO:0015031 protein transport
GO:0031623 receptor internalization
GO:0045986 negative regulation of smooth muscle contraction
GO:0048661 positive regulation of smooth muscle cell proliferation
GO:0071329 cellular response to sucrose stimulus
GO:1903143 adrenomedullin receptor complex
GO:1990406 CGRP receptor complex
GO:1990408 calcitonin gene-related peptide receptor signaling pathway
GO:1990409 adrenomedullin binding
GO:1990410 adrenomedullin receptor signaling pathway

Diseases

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Disease IDSourceNameDescription
618773 OMIMLymphatic malformation 8 (LMPHM8)A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Adult patients with lymphedema may suffer from recurrent local infections. Impaired lymphatic drainage in the fetus can develop into hydrops fetalis, a severe condition characterized by excessive fluid accumulation in more than two fetal extra-vascular compartments and body cavities, placental enlargement and edema, pericardial or pleural effusion, or ascites. LMPHM8 is an autosomal recessive form characterized by onset in utero and fetal death due to non-immune hydrops fetalis. The disease may be caused by variants affecting the gene represented in this entry.