OR2S2

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

Basic information

Region (hg38): 9:35957108-35958154

Links

ENSG00000278889 ∙ NCBI:56656 ∙ ∙ HGNC:8276 ∙ Uniprot:Q9NQN1 ∙ 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 OR2S2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR2S2 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						0
missense			13		1	14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	1

Variants in OR2S2

This is a list of pathogenic ClinVar variants found in the OR2S2 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-35957191-T-A		not specified	Uncertain significance (Dec 16, 2022)
9-35957220-G-C		not specified	Uncertain significance (May 13, 2024)
9-35957230-G-A		not specified	Uncertain significance (Nov 09, 2021)
9-35957348-C-G		not specified	Uncertain significance (Jun 17, 2024)
9-35957357-C-T		not specified	Uncertain significance (Jun 24, 2022)
9-35957563-G-A		not specified	Uncertain significance (Oct 04, 2022)
9-35957564-T-C		not specified	Uncertain significance (Oct 13, 2023)
9-35957627-C-T		not specified	Uncertain significance (Jun 10, 2024)
9-35957659-G-A		not specified	Uncertain significance (Nov 08, 2022)
9-35957683-T-C		not specified	Uncertain significance (Dec 01, 2022)
9-35957726-C-G		not specified	Uncertain significance (Nov 28, 2023)
9-35957732-G-A		not specified	Uncertain significance (Sep 16, 2021)
9-35957936-G-A		not specified	Uncertain significance (Jan 06, 2023)
9-35957941-T-C		not specified	Uncertain significance (Sep 28, 2022)
9-35958011-C-T			Benign (Jul 23, 2018)
9-35958015-G-T		not specified	Uncertain significance (May 02, 2024)
9-35958019-G-A		not specified	Uncertain significance (Jan 22, 2024)
9-35958086-T-C		not specified	Uncertain significance (Apr 24, 2024)

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)

Intolerance Scores

• loftool: 0.892
• rvis_EVS: 2.38
• rvis_percentile_EVS: 98.46

Haploinsufficiency Scores

• pHI: 0.228
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0156

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr155

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;sensory perception of smell;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