C5AR2

complement C5a receptor 2, the group of Complement component GPCRs

Basic information

Region (hg38): 19:47332175-47347329

Previous symbols: [ "GPR77" ]

Links

ENSG00000134830 ∙ NCBI:27202 ∙ OMIM:609949 ∙ HGNC:4527 ∙ Uniprot:Q9P296 ∙ 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 C5AR2 gene.

• not_specified (76 variants)
• not_provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C5AR2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001271749.2. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3	2	5
missense			68	6	3	77
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	68	9	5

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
C5AR2	protein_coding	protein_coding	ENST00000595464	1	11203

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.246	0.652	125634	0	12	125646	0.0000478

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.146	214	208	1.03	0.0000151	2092
Missense in Polyphen		61	63.127	0.9663		726
Synonymous	-0.726	110	101	1.09	0.00000759	794
Loss of Function	1.19	1	3.35	0.298	2.32e-7	27

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000546	0.0000544
Finnish	0.0000521	0.0000462
European (Non-Finnish)	0.0000534	0.0000528
Middle Eastern	0.0000546	0.0000544
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for the chemotactic and inflammatory C3a, C4a and C5a anaphylatoxin peptides and also for their dearginated forms ASP/C3adesArg, C4adesArg and C5adesArg respectively. Couples weakly to G(i)-mediated signaling pathways. {ECO:0000269|PubMed:11773063, ECO:0000269|PubMed:15833747, ECO:0000269|PubMed:19615750}.
• Pathway: GPCRs, Other;Human Complement System;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Innate Immune System;Immune System;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;Regulation of Complement cascade;Complement cascade (Consensus)

Recessive Scores

• pRec: 0.153

Intolerance Scores

• rvis_EVS: -0.33
• rvis_percentile_EVS: 30.7

Haploinsufficiency Scores

• pHI: 0.0520
• hipred: N
• hipred_score: 0.146
• ghis: 0.518

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: C5ar2
• Phenotype: cellular phenotype; homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); immune system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system 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)

Gene ontology

• Biological process: complement receptor mediated signaling pathway;chemotaxis;inflammatory response;phospholipase C-activating G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;regulation of complement activation;negative regulation of tumor necrosis factor production;complement component C5a signaling pathway;positive regulation of epithelial cell proliferation;positive regulation of ERK1 and ERK2 cascade;negative regulation of neutrophil chemotaxis;negative regulation of interleukin-6 secretion;regulation of interleukin-8 secretion
• Cellular component: plasma membrane;basal plasma membrane;integral component of membrane;apical part of cell
• Molecular function: complement component C5a receptor activity;G protein-coupled receptor activity;protein binding