OR2W3

olfactory receptor family 2 subfamily W member 3, the group of Olfactory receptors, family 2

Basic information

Region (hg38): 1:247895587-247896531

Previous symbols: [ "OR2W8P", "OR2W3P" ]

Links

ENSG00000238243 ∙ NCBI:343171 ∙ OMIM:616729 ∙ HGNC:15021 ∙ Uniprot:Q7Z3T1 ∙ 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 OR2W3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR2W3 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			8	46	5	59
missense			116	3	15	134
nonsense			2			2
start loss						0
frameshift			6		1	7
inframe indel			2		1	3
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	134	49	22

Variants in OR2W3

This is a list of pathogenic ClinVar variants found in the OR2W3 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-247895600-A-C		not specified	Uncertain significance (Jun 29, 2022)
1-247895606-G-A			Uncertain significance (Nov 19, 2023)
1-247895618-A-G			Uncertain significance (Nov 23, 2022)
1-247895625-C-T			Benign (Dec 25, 2023)
1-247895626-C-T			Benign (Dec 16, 2023)
1-247895644-C-T			Uncertain significance (Jan 08, 2023)
1-247895645-G-A		not specified	Uncertain significance (Dec 02, 2022)
1-247895653-C-A			Uncertain significance (Mar 09, 2022)
1-247895655-G-A			Likely benign (Apr 07, 2022)
1-247895674-G-A			Uncertain significance (Oct 23, 2023)
1-247895681-T-G		OR2W3-related disorder	Benign (Jan 22, 2024)
1-247895684-TCGCGTACCTCCTGAC-T			Uncertain significance (Apr 29, 2022)
1-247895685-C-T			Likely benign (Nov 28, 2023)
1-247895686-G-A		not specified	Uncertain significance (Oct 12, 2023)
1-247895687-C-T			Uncertain significance (Nov 18, 2023)
1-247895688-G-A			Likely benign (Jun 27, 2022)
1-247895691-C-A			Uncertain significance (Apr 16, 2022)
1-247895695-C-T			Uncertain significance (Jul 03, 2023)
1-247895700-C-T			Likely benign (Nov 27, 2021)
1-247895701-C-A			Uncertain significance (Sep 10, 2023)
1-247895703-C-T			Likely benign (Sep 11, 2023)
1-247895704-G-A		not specified	Uncertain significance (Feb 28, 2023)
1-247895709-C-G			Likely benign (Dec 01, 2022)
1-247895714-C-G			Uncertain significance (Jul 17, 2022)
1-247895734-C-T			Uncertain significance (Oct 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR2W3	protein_coding	protein_coding	ENST00000537741	1	29173

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000101	0.370	125681	0	67	125748	0.000266

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.658	203	178	1.14	0.00000976	2010
Missense in Polyphen		57	52.129	1.0934		690
Synonymous	-1.20	91	77.6	1.17	0.00000430	696
Loss of Function	0.0288	6	6.08	0.987	3.47e-7	70

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000774	0.000774
Ashkenazi Jewish	0.00	0.00
East Asian	0.00169	0.00169
Finnish	0.00	0.00
European (Non-Finnish)	0.0000616	0.0000615
Middle Eastern	0.00169	0.00169
South Asian	0.000196	0.000196
Other	0.000489	0.000489

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: 0.683
• rvis_EVS: 2.4
• rvis_percentile_EVS: 98.51

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.109

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr322

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