OR2A14

olfactory receptor family 2 subfamily A member 14, the group of Olfactory receptors, family 2

Basic information

Region (hg38): 7:144123176-144131188

Previous symbols: [ "OR2A14P", "OR2A6" ]

Links

ENSG00000221938 ∙ NCBI:135941 ∙ ∙ HGNC:15084 ∙ Uniprot:Q96R47 ∙ 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 OR2A14 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR2A14 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			22	4		26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	4	0

Variants in OR2A14

This is a list of pathogenic ClinVar variants found in the OR2A14 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-144129207-C-T		not specified	Likely benign (Oct 26, 2021)
7-144129218-C-T		not specified	Likely benign (May 09, 2023)
7-144129221-A-T		not specified	Uncertain significance (Jan 11, 2023)
7-144129251-A-T		not specified	Uncertain significance (Mar 14, 2023)
7-144129258-G-T		not specified	Uncertain significance (Nov 18, 2023)
7-144129267-G-C		not specified	Likely benign (Sep 26, 2022)
7-144129294-T-A		not specified	Uncertain significance (Sep 01, 2021)
7-144129296-C-T		not specified	Uncertain significance (Mar 08, 2024)
7-144129304-C-G		not specified	Uncertain significance (Oct 03, 2023)
7-144129314-G-C		not specified	Uncertain significance (Jul 06, 2021)
7-144129323-T-C		not specified	Uncertain significance (Jun 27, 2022)
7-144129372-A-T		not specified	Uncertain significance (Apr 19, 2023)
7-144129458-G-C		not specified	Uncertain significance (May 17, 2023)
7-144129500-C-T		not specified	Uncertain significance (Sep 17, 2021)
7-144129516-T-C		not specified	Uncertain significance (Jul 13, 2022)
7-144129525-G-A		not specified	Uncertain significance (Jan 27, 2022)
7-144129617-G-A		not specified	Uncertain significance (Aug 10, 2023)
7-144129642-T-A		not specified	Uncertain significance (May 01, 2024)
7-144129725-A-G		not specified	Uncertain significance (Mar 24, 2023)
7-144129740-C-G		not specified	Uncertain significance (Feb 28, 2024)
7-144129767-C-T		not specified	Likely benign (Feb 16, 2023)
7-144129779-G-C		not specified	Uncertain significance (Dec 01, 2022)
7-144129848-G-A		not specified	Uncertain significance (Jan 10, 2023)
7-144129890-G-A		not specified	Uncertain significance (Jun 11, 2024)
7-144129929-C-T		not specified	Uncertain significance (Jan 10, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR2A14	protein_coding	protein_coding	ENST00000408899	1	1012

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000137	0.425	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.858	197	166	1.19	0.00000957	2009
Missense in Polyphen		40	32.079	1.2469		486
Synonymous	-0.193	73	70.9	1.03	0.00000419	649
Loss of Function	0.184	6	6.51	0.922	3.68e-7	80

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: 0.656
• rvis_EVS: 1.06
• rvis_percentile_EVS: 91.51

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr237-ps1

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