Gene Gene information from NCBI Gene database.
Entrez ID 10203
Gene name Calcitonin receptor like receptor
Gene symbol CALCRL
Synonyms (NCBI Gene)
CGRPRCRLRLMPHM8
Chromosome 2
Chromosome location 2q32.1
miRNA miRNA information provided by mirtarbase database.
153
miRTarBase ID miRNA Experiments Reference
MIRT022193 hsa-miR-124-3p Microarray 18668037
MIRT858953 hsa-miR-1226 CLIP-seq
MIRT858954 hsa-miR-1244 CLIP-seq
MIRT858955 hsa-miR-128 CLIP-seq
MIRT858956 hsa-miR-1287 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
54
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IBA
GO:0001525 Process Angiogenesis IDA 20596610
GO:0001605 Function Adrenomedullin receptor activity IBA
GO:0001605 Function Adrenomedullin receptor activity IDA 9620797, 32296767
GO:0001605 Function Adrenomedullin receptor activity IPI 9620797, 10882736, 20074556, 22102369
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
114190 16709 ENSG00000064989
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16602
Protein name Calcitonin gene-related peptide type 1 receptor (CGRP type 1 receptor) (Calcitonin receptor-like receptor) (CRLR)
Protein function 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-gen
PDB 3AQF , 3N7P , 3N7R , 3N7S , 4RWF , 4RWG , 5V6Y , 6D1U , 6E3Y , 6UMG , 6UUN , 6UUS , 6UVA , 6V2E , 6ZHO , 6ZIS , 7KNT , 7KNU , 7P0F , 7P0I , 8AX5 , 8AX6 , 8AX7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02793 HRM 62 130 Hormone receptor domain Family
PF00002 7tm_2 138 380 7 transmembrane receptor (Secretin family) Family
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in the lung and heart. {ECO:0000269|PubMed:8626685}.
Sequence
Sequence length 461
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Neuroactive ligand-receptor interaction
Vascular smooth muscle contraction
  G alpha (s) signalling events
Calcitonin-like ligand receptors
ADORA2B mediated anti-inflammatory cytokines production
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Lymphatic malformation 8 Pathogenic rs1574226259 RCV001003344
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 17102095
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 28030866
★☆☆☆☆
Found in Text Mining only
Anemia Anemia Pubtator 33413630 Associate
★☆☆☆☆
Found in Text Mining only
Angle Closure Glaucoma Angle Closure Glaucoma BEFREE 19898635, 22933837
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 17290391
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety disorder Pubtator 32507125 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 35806402 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 10555038 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 15547717
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36785674 Associate
★☆☆☆☆
Found in Text Mining only