OR2W3

protein-coding

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

Gene summary

Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]

Previous symbols:

OR2W8P
OR2W3P

MANE transcript

NM_001001957.2

Inheritance

—

ClinVar variants

U:184B:65

Top phenotype

OR2W3-related disorder

gnomAD constraint

pLI —, LoF o/e 0.99

Max pathogenic AF

—

Genomic locus

chr1:247,895,587-247,896,531

External References & Databases

Ensembl (ENSG00000238243)

Transcript & Mutation Effects

hg38 • Region Span ~0.9 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to OR2W3 variants in ClinVar

3 Conditions Cataloged

not providedTotal: 228

not specifiedTotal: 53

OR2W3-related disorderTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001001957.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			19 clinvar	46 clinvar	4 clinvar	69
missense			151 clinvar	6 clinvar	9 clinvar	166
nonsense			4 clinvar			4
start loss						0
frameshift			10 clinvar			10
splice donor/acceptor (+/-2bp)						0
Total	0	0	184	52	13	249

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001001957.2	RefSeq	NP_001001957.2	1	MANE Select
ENST00000360358.3	Ensembl	ENSP00000353516.3	1	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Olfactory transduction - Homo sapiens (human)
Olfactory receptor activity
Signaling by GPCR
Signal Transduction
Olfactory Signaling Pathway

Biological Process

G protein-coupled receptor signaling pathway
detection of chemical stimulus involved in sensory perception of smell

Molecular Function

G protein-coupled receptor activity
olfactory receptor activity

Cellular Component

plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000537741
Coding exons: 1
Length: 29173
Individuals with no LoFs: 125681
Homozygous LoFs: 0
Heterozygous LoFs: 67
Defined: 125748
p: 0.000266

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.658	203	178	1.14	0.00000976	2010
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00037	0.00037	rare
Latino/Admixed American	0.00040	0.00040	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0017	0.0017	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.000062	0.000062	rare
South Asian	0.00020	0.00020	rare
Other	0.00049	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Odorant receptor. {ECO:0000305}.;

Intolerance Scores

LoFtool: 0.683
RVIS EVS: 2.4
RVIS percentile EVS: 98.51

Essentials

Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.109

Gene Damage Prediction

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