GeneBe

C3AR1

complement C3a receptor 1, the group of Complement system regulators and receptors|Complement component GPCRs

Basic information

Region (hg38): 12:8056844-8066359

Links

ENSG00000171860 ∙ NCBI:719 ∙ OMIM:605246 ∙ HGNC:1319 ∙ Uniprot:Q16581 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the C3AR1 gene.

  • not_specified (58 variants)
  • C3AR1-related_disorder (9 variants)
  • not_provided (4 variants)
  • Prostate_cancer (1 variants)
  • Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C3AR1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004054.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
3
clinvar
 3
missense
60
clinvar
3
clinvar
2
clinvar
 65
nonsense
0
start loss
0
frameshift
1
clinvar
2
clinvar
 3
splice donor/acceptor (+/-2bp)
0
Total 0 1 62 6 2
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
C3AR1protein_codingprotein_codingENST00000307637 18170
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
3.31e-90.095912562801191257470.000473
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.3022792651.050.00001373159
Missense in Polyphen9184.4951.0771013
Synonymous0.712961050.9120.000005761002
Loss of Function-0.01841312.91.017.02e-7137

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0007330.000731
Ashkenazi Jewish0.0003970.000397
East Asian0.0001630.000163
Finnish0.00004620.0000462
European (Non-Finnish)0.0007210.000721
Middle Eastern0.0001630.000163
South Asian0.0003920.000392
Other0.0004890.000489

dbNSFP

Source: dbNSFP

Function
FUNCTION: Receptor for the chemotactic and inflammatory peptide anaphylatoxin C3a. This receptor stimulates chemotaxis, granule enzyme release and superoxide anion production.;
Pathway
Complement and coagulation cascades - Homo sapiens (human);Staphylococcus aureus infection - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Peptide GPCRs;Human Complement System;Dengue-2 Interactions with Complement and Coagulation Cascades;Oxidative Damage;GPCRs, Class A Rhodopsin-like;Complement and Coagulation Cascades;Signaling by GPCR;Neutrophil degranulation;Signal Transduction;Innate Immune System;Immune System;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;Regulation of Complement cascade;G alpha (i) signalling events;Complement cascade;GPCR downstream signalling (Consensus)

Recessive Scores

pRec
0.0995

Intolerance Scores

loftool
0.743
rvis_EVS
-0.29
rvis_percentile_EVS
33.34

Haploinsufficiency Scores

pHI
0.0290
hipred
N
hipred_score
0.123
ghis
0.468

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0116

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
C3ar1
Phenotype
mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; liver/biliary system phenotype; respiratory system phenotype; skeleton phenotype; immune system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process
complement receptor mediated signaling pathway;chemotaxis;inflammatory response;G protein-coupled receptor signaling pathway;phospholipase C-activating G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;blood circulation;positive regulation of vascular endothelial growth factor production;positive regulation of macrophage chemotaxis;regulation of complement activation;neutrophil degranulation;positive regulation of angiogenesis;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway;positive regulation of neutrophil chemotaxis
Cellular component
plasma membrane;integral component of plasma membrane;azurophil granule membrane;specific granule membrane
Molecular function
complement component C3a receptor activity;G protein-coupled receptor activity