C3AR1

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

Basic information

Region (hg38): 12:8056843-8066359

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.

• Inborn genetic diseases (20 variants)
• C3AR1-related condition (6 variants)
• not provided (3 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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			23	1	2	26
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1			1
non coding						0
Total	0	0	24	2	2

Variants in C3AR1

This is a list of pathogenic ClinVar variants found in the C3AR1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-8058955-T-TC		C3AR1-related disorder	Uncertain significance (Dec 02, 2022)
12-8058959-C-T		C3AR1-related disorder	Likely benign (Sep 08, 2023)
12-8059009-A-G		not specified	Uncertain significance (May 30, 2022)
12-8059019-G-C		C3AR1-related disorder	Uncertain significance (Dec 01, 2022)
12-8059038-A-G		Malignant tumor of prostate	Uncertain significance (-)
12-8059067-G-C		not specified	Uncertain significance (Dec 21, 2023)
12-8059191-G-A		not specified	Uncertain significance (Mar 06, 2023)
12-8059213-C-T		not specified	Uncertain significance (May 03, 2023)
12-8059230-T-C		not specified	Likely benign (May 17, 2023)
12-8059267-C-T		C3AR1-related disorder	Uncertain significance (Oct 12, 2022)
12-8059323-G-T		not specified	Uncertain significance (Mar 06, 2023)
12-8059386-G-T		not specified	Uncertain significance (Aug 14, 2023)
12-8059396-C-T		not specified	Uncertain significance (Nov 18, 2022)
12-8059397-A-C		not specified	Uncertain significance (Mar 14, 2023)
12-8059467-T-C		not specified	Uncertain significance (May 11, 2022)
12-8059485-A-C		not specified	Uncertain significance (May 25, 2022)
12-8059491-T-C		not specified	Uncertain significance (Dec 20, 2023)
12-8059495-G-T		not specified	Uncertain significance (Nov 08, 2022)
12-8059599-G-A		not specified	Uncertain significance (Apr 28, 2022)
12-8059611-A-G		not specified	Uncertain significance (Nov 10, 2022)
12-8059618-C-T		not specified	Likely benign (Oct 20, 2023)
12-8059623-T-C		C3AR1-related disorder	Uncertain significance (Jun 02, 2023)
12-8059625-A-C		C3AR1-related disorder	Uncertain significance (Sep 02, 2022)
12-8059626-A-G		not specified	Uncertain significance (May 10, 2023)
12-8059637-A-C		not specified	Uncertain significance (Apr 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C3AR1	protein_coding	protein_coding	ENST00000307637	1	8170

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.31e-9	0.0959	125628	0	119	125747	0.000473

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.302	279	265	1.05	0.0000137	3159
Missense in Polyphen		91	84.495	1.077		1013
Synonymous	0.712	96	105	0.912	0.00000576	1002
Loss of Function	-0.0184	13	12.9	1.01	7.02e-7	137

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000733	0.000731
Ashkenazi Jewish	0.000397	0.000397
East Asian	0.000163	0.000163
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000721	0.000721
Middle Eastern	0.000163	0.000163
South Asian	0.000392	0.000392
Other	0.000489	0.000489

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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

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