OR2AK2

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

Basic information

Region (hg38): 1:247965233-247966386

Previous symbols: [ "OR2AK1P" ]

Links

ENSG00000187080 ∙ NCBI:391191 ∙ ∙ HGNC:19569 ∙ Uniprot:Q8NG84 ∙ 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 OR2AK2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR2AK2 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					3	3
missense			22	2	2	26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2			2
Total	0	0	24	2	5

Variants in OR2AK2

This is a list of pathogenic ClinVar variants found in the OR2AK2 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-247965339-T-C		not specified	Uncertain significance (Jun 28, 2022)
1-247965351-T-C		not specified	Uncertain significance (Sep 14, 2022)
1-247965396-G-A		not specified	Uncertain significance (Feb 26, 2024)
1-247965423-G-A			Benign (Aug 01, 2018)
1-247965473-A-C		not specified	Uncertain significance (Dec 03, 2021)
1-247965548-C-T		not specified	Uncertain significance (Apr 07, 2023)
1-247965578-A-G		not specified	Uncertain significance (Mar 07, 2024)
1-247965596-A-G		not specified	Uncertain significance (Aug 08, 2023)
1-247965632-C-T		not specified	Uncertain significance (Nov 17, 2023)
1-247965672-T-C		not specified	Uncertain significance (Sep 14, 2022)
1-247965679-G-A			Benign (Aug 01, 2018)
1-247965729-T-G		not specified	Uncertain significance (Sep 28, 2022)
1-247965735-A-G		not specified	Uncertain significance (Oct 06, 2021)
1-247965744-A-G		not specified	Uncertain significance (Oct 19, 2021)
1-247965759-A-G		not specified	Uncertain significance (Apr 26, 2023)
1-247965778-G-A		not specified	Likely benign (Aug 04, 2022)
1-247965813-C-T		not specified	Uncertain significance (Jan 30, 2024)
1-247965840-A-G		not specified	Uncertain significance (Apr 04, 2024)
1-247965871-G-A			Benign (Aug 01, 2018)
1-247965950-A-T		not specified	Uncertain significance (Jun 11, 2021)
1-247966000-A-G			Benign (Aug 01, 2018)
1-247966014-C-G		not specified	Uncertain significance (Mar 01, 2023)
1-247966034-C-T		not specified	Uncertain significance (May 18, 2023)
1-247966035-G-A		not specified	Uncertain significance (Oct 13, 2023)
1-247966076-C-A		not specified	Uncertain significance (Apr 25, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR2AK2	protein_coding	protein_coding	ENST00000366480	1	1107

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0537	174	176	0.989	0.00000870	2142
Missense in Polyphen		39	46.345	0.84152		691
Synonymous	1.20	55	67.6	0.814	0.00000321	706
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

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: 0.0882

Intolerance Scores

• loftool: 0.741
• rvis_EVS: 1.4
• rvis_percentile_EVS: 94.7

Haploinsufficiency Scores

• pHI: 0.208
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.189

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr320

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