OR52B6

olfactory receptor family 52 subfamily B member 6, the group of Olfactory receptors, family 52

Basic information

Region (hg38): 11:5580877-5581884

Links

ENSG00000187747 ∙ NCBI:340980 ∙ ∙ HGNC:15211 ∙ Uniprot:Q8NGF0 ∙ 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 OR52B6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR52B6 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			17	1		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	1	0

Variants in OR52B6

This is a list of pathogenic ClinVar variants found in the OR52B6 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-5580890-G-A		not specified	Uncertain significance (Apr 27, 2022)
11-5580902-A-C		not specified	Uncertain significance (Jan 05, 2022)
11-5580917-T-C		not specified	Uncertain significance (May 07, 2024)
11-5580959-G-A		not specified	Uncertain significance (Mar 15, 2024)
11-5581034-T-C		not specified	Likely benign (Oct 26, 2021)
11-5581067-T-A		not specified	Uncertain significance (Jan 16, 2024)
11-5581199-G-T		not specified	Uncertain significance (Aug 16, 2021)
11-5581347-C-G		not specified	Uncertain significance (May 26, 2024)
11-5581378-C-A		not specified	Uncertain significance (Feb 14, 2023)
11-5581384-C-T		not specified	Uncertain significance (Aug 22, 2023)
11-5581432-C-A		not specified	Uncertain significance (Jun 05, 2024)
11-5581445-T-A		not specified	Uncertain significance (Jan 23, 2024)
11-5581460-A-G		not specified	Uncertain significance (Jun 30, 2023)
11-5581467-T-G		not specified	Uncertain significance (Mar 11, 2024)
11-5581564-A-T		not specified	Uncertain significance (Apr 08, 2022)
11-5581573-A-T		not specified	Uncertain significance (Sep 22, 2022)
11-5581574-T-C		not specified	Uncertain significance (Dec 28, 2022)
11-5581610-T-A		not specified	Uncertain significance (Dec 20, 2022)
11-5581642-G-A		not specified	Uncertain significance (Oct 12, 2021)
11-5581687-T-C		not specified	Uncertain significance (Dec 14, 2021)
11-5581831-A-C		not specified	Uncertain significance (Jan 20, 2023)
11-5581843-G-T		not specified	Uncertain significance (Feb 28, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR52B6	protein_coding	protein_coding	ENST00000345043	1	1008

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00395	0.664	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.131	187	182	1.03	0.00000899	2188
Missense in Polyphen		61	61.552	0.99104		820
Synonymous	0.144	72	73.6	0.979	0.00000377	709
Loss of Function	0.589	4	5.49	0.729	3.19e-7	64

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: 0.0772

Intolerance Scores

• loftool: 0.665
• rvis_EVS: 1.91
• rvis_percentile_EVS: 97.38

Haploinsufficiency Scores

• pHI: 0.0887
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0552

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr618

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