C3AR1 (complement C3a receptor 1)

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Associated diseases
Entrez ID 719
Gene name Complement C3a receptor 1
Gene symbol C3AR1
Synonyms (NCBI Gene)
AZ3BC3ARHNFAG09
Chromosome 12
Chromosome location 12p13.31
Summary C3a is an anaphylatoxin released during activation of the complement system. The protein encoded by this gene is an orphan G protein-coupled receptor for C3a. Binding of C3a by the encoded receptor activates chemotaxis, granule enzyme release, superoxide
SNPs SNP information provided by dbSNP.
1
Gene SNPs Other IDs Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs869312973 ->TC Likely-pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
3
Gene SNPs Other IDs Associated diseases
Show/Hide all (3)
miRTarBase ID miRNA Experiments Reference
MIRT846551 hsa-miR-421 CLIP-seq
MIRT846552 hsa-miR-4272 CLIP-seq
MIRT846553 hsa-miR-4729 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
Gene SNPs Other IDs Associated diseases
Show/Hide all (38)
GO ID Ontology Definition Evidence Reference
GO:0002430 Process Complement receptor mediated signaling pathway IBA
GO:0002430 Process Complement receptor mediated signaling pathway IDA 10571060, 37169960, 37852260
GO:0002684 Process Positive regulation of immune system process IEA
GO:0004875 Function Complement receptor activity IEA
GO:0004876 Function Complement component C3a receptor activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
605246 1319 ENSG00000171860
Protein Protein information from UniProt database.
Gene SNPs Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16581
Protein name C3a anaphylatoxin chemotactic receptor (C3AR) (C3a-R)
Protein function Receptor for the chemotactic and inflammatory peptide anaphylatoxin C3a. This receptor stimulates chemotaxis, granule enzyme release and superoxide anion production.
PDB 8HK2 , 8HK3 , 8I95 , 8I97 , 8I9A , 8I9L , 8I9S , 8IA8 , 8J6D , 8JA3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00001 7tm_1 40 → 184 7 transmembrane receptor (rhodopsin family) Family
PF00001 7tm_1 318 → 435 7 transmembrane receptor (rhodopsin family) Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed in several differentiated hematopoietic cell lines, in the lung, spleen, ovary, placenta, small intestine, throughout the brain, heart, and endothelial cells. Mostly expressed in lymphoid tissues.
Sequence 
MASFSAETNSTDLLSQPWNEPPVILSMVILSLTFLLGLPGNGLVLWVAGLKMQRTVNTIW
FLHLTLADLLCCLSLPFSLAHLALQGQWPYGRFLCKLIPSIIVLNMFASVFLLTAISLDR
CLVVFKPIWCQNHRNVGMACSICGCIWVVAFVMCIPVFVYREIFTTDNHNRCGYKFGLSS
SLDYPDFYGDPLENRSLENIVQPPGEMNDRLDPSSFQTNDHPWTVPTVFQPQTFQRPSAD
SLPRGSARLTSQNLYSNVFKPADVVSPKIPSGFPIEDHETSPLDNSDAFLSTHLKLFPSA
SSNSFYESELPQGFQDYYNLGQFTDDDQVPTPLVAITITRLVVGFLLPSVIMIACYSFIV
FRMQRGRFAKSQSKTFRVAVVVVAVFLVCWTPYHIFGVLSLLTDPETPLGKTLMSWDHVC
IALASANSCFNPFLYALLGKDFRKKARQSIQGILEAAFSEELTRSTHCPSNNVISERNST
TV
Sequence length 482
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Gene SNPs Other IDs Associated diseases
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)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hemolytic uremic syndrome, atypical, susceptibility to, 1 Likely pathogenic rs869312973 RCV000210740
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (3)
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
ASTHMA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
C3AR1-related disorder Uncertain significance; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Prostate cancer Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (91)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Medulloblastoma Medulloblastoma BEFREE 25603857
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 29946065
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Thoracic Thoracic aortic aneurysm Pubtator 33531038 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 11160252, 15278436, 16091207, 27445529
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma LHGDN 15039137
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma Pubtator 27445529 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Astrocytoma Astrocytoma Pubtator 10349852 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 21827714 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atypical Hemolytic Uremic Syndrome Hemolytic Uremic Syndrome BEFREE 29555686
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 24327134, 29138505, 29315316
★★★★★
★☆☆☆☆
Found in Text Mining only