C3AR1 (complement C3a receptor 1)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
719
Gene name Gene Name - the full gene name approved by the HGNC.
Complement C3a receptor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
C3AR1
Synonyms (NCBI Gene) Gene synonyms aliases
AZ3B, C3AR, HNFAG09
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.31
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
605246 1319 ENSG00000171860
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hemolytic Uremic Syndrome Hemolytic uremic syndrome, atypical, susceptibility to, 1 rs869312973 N/A
Show/Hide Text Mining Associations (60)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acne Vulgaris Associate 31281837
Aortic Aneurysm Thoracic Associate 33531038
Asthma Associate 27445529
Astrocytoma Associate 10349852
Atherosclerosis Associate 21827714
Autoimmune Diseases Associate 29138505
Behcet Syndrome Stimulate 29138505
Brain Neoplasms Associate 26849056
Breast Neoplasms Associate 28351365
Carcinoma Hepatocellular Associate 33176600