OR2AG1

olfactory receptor family 2 subfamily AG member 1, the group of Olfactory receptors, family 2

Basic information

Region (hg38): 11:6783020-6791558

Previous symbols: [ "OR2AG3" ]

Links

ENSG00000279486 ∙ NCBI:144125 ∙ ∙ HGNC:15142 ∙ Uniprot:Q9H205 ∙ 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 OR2AG1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR2AG1 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					2	2
missense			29	1	4	34
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	1	6

Variants in OR2AG1

This is a list of pathogenic ClinVar variants found in the OR2AG1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-6785121-T-G		not specified	Uncertain significance (Feb 06, 2024)
11-6785128-A-G		not specified	Likely benign (Jan 22, 2025)
11-6785188-A-G		not specified	Uncertain significance (Aug 20, 2024)
11-6785197-C-T		not specified	Uncertain significance (Sep 21, 2021)
11-6785198-G-A		not specified	Uncertain significance (Oct 05, 2021)
11-6785232-G-C			Benign (Jul 13, 2018)
11-6785266-G-A		not specified	Uncertain significance (May 08, 2024)
11-6785285-C-A		not specified	Uncertain significance (Nov 15, 2024)
11-6785309-C-T		not specified	Uncertain significance (Feb 09, 2023)
11-6785315-C-T		not specified	Uncertain significance (Sep 21, 2021)
11-6785362-G-C		not specified	Uncertain significance (Dec 11, 2024)
11-6785379-A-G			Benign (Mar 29, 2018)
11-6785380-C-A		not specified	Uncertain significance (Aug 05, 2024)
11-6785423-C-T		not specified	Uncertain significance (Aug 17, 2021)
11-6785436-G-C		not specified	Uncertain significance (Nov 26, 2024)
11-6785440-C-G			Benign (Mar 29, 2018)
11-6785444-T-C		not specified	Uncertain significance (Aug 05, 2022)
11-6785462-G-T		not specified	Uncertain significance (Sep 22, 2023)
11-6785537-C-T		not specified	Uncertain significance (Apr 19, 2023)
11-6785552-A-G		not specified	Likely benign (Dec 31, 2024)
11-6785553-G-T		not specified	Uncertain significance (Jan 19, 2025)
11-6785569-C-T		not specified	Uncertain significance (Jun 25, 2024)
11-6785585-A-C			Benign (Mar 29, 2018)
11-6785585-A-G		not specified	Uncertain significance (Apr 29, 2024)
11-6785690-A-G		not specified	Uncertain significance (Jan 09, 2025)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Odorant receptor. {ECO:0000305}.
• Pathway: Olfactory transduction - Homo sapiens (human);GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Olfactory Signaling Pathway;G alpha (s) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.120

Intolerance Scores

• loftool: 0.711
• rvis_EVS: 1.91
• rvis_percentile_EVS: 97.38

Haploinsufficiency Scores

• pHI: 0.100
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0432

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr705

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;detection of chemical stimulus involved in sensory perception of smell
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: G protein-coupled receptor activity;olfactory receptor activity;protein binding