OR2L8

olfactory receptor family 2 subfamily L member 8, the group of Olfactory receptors, family 2

Basic information

Region (hg38): 1:247948858-247949796

Links

ENSG00000279263 ∙ NCBI:391190 ∙ ∙ HGNC:15014 ∙ Uniprot:Q8NGY9 ∙ 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 OR2L8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR2L8 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			13
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	0

Variants in OR2L8

This is a list of pathogenic ClinVar variants found in the OR2L8 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-247949000-T-C		not specified	Uncertain significance (Mar 30, 2024)
1-247949114-A-C		not specified	Uncertain significance (Jan 03, 2024)
1-247949141-G-T		not specified	Uncertain significance (Jun 07, 2023)
1-247949213-A-T		not specified	Uncertain significance (Feb 15, 2023)
1-247949246-A-T		not specified	Uncertain significance (Jan 30, 2024)
1-247949266-A-G		not specified	Uncertain significance (Apr 05, 2023)
1-247949318-A-G		not specified	Uncertain significance (Apr 27, 2024)
1-247949404-A-G		not specified	Uncertain significance (Nov 29, 2023)
1-247949491-G-T		not specified	Uncertain significance (Jun 27, 2022)
1-247949533-C-T		not specified	Uncertain significance (Feb 14, 2023)
1-247949557-A-G		not specified	Uncertain significance (Dec 28, 2022)
1-247949579-G-A		not specified	Uncertain significance (Oct 27, 2022)
1-247949660-C-T		not specified	Uncertain significance (Jan 23, 2024)
1-247949698-A-T		not specified	Uncertain significance (Apr 09, 2024)
1-247949733-G-T		not specified	Uncertain significance (Oct 29, 2021)
1-247949769-T-G		not specified	Uncertain significance (Jun 05, 2024)
1-247949773-A-G		not specified	Uncertain significance (May 09, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.0945

Intolerance Scores

• loftool: 0.693
• rvis_EVS: 2.4
• rvis_percentile_EVS: 98.49

Haploinsufficiency Scores

• pHI: 0.0510
• hipred: N
• hipred_score: 0.158

Essentials

• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.171

Gene Damage Prediction

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

Gene ontology

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