OR2G6

olfactory receptor family 2 subfamily G member 6, the group of Olfactory receptors, family 2

Basic information

Region (hg38): 1:248508073-248527337

Links

ENSG00000188558 ∙ NCBI:391211 ∙ ∙ HGNC:27019 ∙ Uniprot:Q5TZ20 ∙ 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 OR2G6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR2G6 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			35	2		37
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	35	2	0

Variants in OR2G6

This is a list of pathogenic ClinVar variants found in the OR2G6 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-248521674-A-C		not specified	Uncertain significance (Mar 20, 2024)
1-248521674-A-G		not specified	Uncertain significance (Dec 16, 2023)
1-248521675-A-G		not specified	Uncertain significance (Nov 10, 2022)
1-248521683-C-A		not specified	Uncertain significance (Jul 17, 2024)
1-248521686-C-G		not specified	Uncertain significance (Aug 19, 2023)
1-248521690-T-C		not specified	Uncertain significance (Feb 16, 2023)
1-248521723-T-G		not specified	Uncertain significance (Jan 31, 2023)
1-248521748-C-G		not specified	Uncertain significance (Dec 25, 2024)
1-248521776-G-A		not specified	Uncertain significance (Sep 21, 2023)
1-248521794-T-G		not specified	Uncertain significance (Jan 21, 2025)
1-248521795-G-T		not specified	Uncertain significance (Nov 26, 2024)
1-248521854-G-C		not specified	Uncertain significance (Apr 08, 2024)
1-248521864-T-A		not specified	Uncertain significance (Dec 11, 2024)
1-248521878-G-C		not specified	Uncertain significance (Jun 13, 2024)
1-248521879-C-T		not specified	Uncertain significance (Apr 12, 2022)
1-248521921-T-G		not specified	Uncertain significance (Nov 26, 2024)
1-248521923-A-G		not specified	Uncertain significance (Jul 07, 2024)
1-248521924-G-A		not specified	Uncertain significance (Jun 04, 2024)
1-248521953-G-A		not specified	Uncertain significance (Jul 08, 2022)
1-248521960-T-C		not specified	Uncertain significance (Dec 14, 2024)
1-248521961-G-C		not specified	Uncertain significance (Jan 24, 2024)
1-248521986-C-T		not specified	Uncertain significance (Oct 20, 2024)
1-248522017-C-G		not specified	Uncertain significance (Jan 29, 2025)
1-248522038-G-A		not specified	Likely benign (May 04, 2023)
1-248522041-A-G		not specified	Uncertain significance (Jan 29, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR2G6	protein_coding	protein_coding	ENST00000343414	1	1049

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000500	0.461	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.21	225	179	1.25	0.00000954	2046
Missense in Polyphen		58	48.14	1.2048		624
Synonymous	-1.31	90	75.6	1.19	0.00000457	673
Loss of Function	0.138	5	5.34	0.936	2.25e-7	78

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.0874

Intolerance Scores

• loftool: 0.942
• rvis_EVS: 0.78
• rvis_percentile_EVS: 87.18

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.200

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr1383

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