OR2B11

olfactory receptor family 2 subfamily B member 11, the group of Olfactory receptors, family 2

Basic information

Region (hg38): 1:247449118-247458105

Links

ENSG00000177535 ∙ NCBI:127623 ∙ ∙ HGNC:31249 ∙ Uniprot:Q5JQS5 ∙ 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 OR2B11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR2B11 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			16	5		21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	5	2

Variants in OR2B11

This is a list of pathogenic ClinVar variants found in the OR2B11 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-247451063-C-A		not specified	Uncertain significance (Jun 04, 2024)
1-247451073-C-T		not specified	Uncertain significance (May 17, 2023)
1-247451077-C-G		not specified	Uncertain significance (Jan 17, 2024)
1-247451217-A-G		not specified	Uncertain significance (Jul 13, 2021)
1-247451233-C-A		not specified	Uncertain significance (Dec 14, 2021)
1-247451243-G-C		not specified	Uncertain significance (Oct 20, 2023)
1-247451270-C-A		not specified	Uncertain significance (Jan 23, 2024)
1-247451270-C-T		not specified	Uncertain significance (Jul 12, 2023)
1-247451382-T-C		not specified	Likely benign (May 17, 2023)
1-247451421-C-T		not specified	Likely benign (Dec 27, 2023)
1-247451461-C-T			Benign (Jul 31, 2018)
1-247451482-C-G			Benign (Jul 31, 2018)
1-247451495-T-G		not specified	Uncertain significance (Sep 26, 2022)
1-247451500-G-C		not specified	Likely benign (Feb 05, 2024)
1-247451511-C-T		not specified	Uncertain significance (Aug 09, 2021)
1-247451528-G-A		not specified	Uncertain significance (Feb 28, 2023)
1-247451538-C-G		not specified	Uncertain significance (Apr 08, 2022)
1-247451538-C-T		not specified	Uncertain significance (Apr 07, 2022)
1-247451571-C-T		not specified	Likely benign (Sep 29, 2023)
1-247451616-C-A		not specified	Uncertain significance (May 12, 2024)
1-247451700-T-C		not specified	Uncertain significance (Dec 02, 2022)
1-247451784-G-A		not specified	Uncertain significance (May 29, 2024)
1-247451828-G-A		not specified	Likely benign (Nov 06, 2023)
1-247451844-C-A		not specified	Uncertain significance (Dec 06, 2021)
1-247451946-G-A		not specified	Uncertain significance (Sep 14, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR2B11	protein_coding	protein_coding	ENST00000318749	1	1054

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000225	0.526	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.285	177	188	0.942	0.0000110	2033
Missense in Polyphen		59	75.825	0.77811		886
Synonymous	-0.227	88	85.3	1.03	0.00000535	688
Loss of Function	0.435	6	7.26	0.826	4.08e-7	75

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)

Intolerance Scores

• loftool: 0.743
• rvis_EVS: 2.31
• rvis_percentile_EVS: 98.35

Haploinsufficiency Scores

• pHI: 0.204
• hipred: N
• hipred_score: 0.170

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.199

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr222

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