OR2A7

olfactory receptor family 2 subfamily A member 7, the group of Olfactory receptors, family 2

Basic information

Region (hg38): 7:144257663-144264792

Links

ENSG00000243896NCBI:401427HGNC:8234Uniprot:Q96R45AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OR2A7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR2A7 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
15
clinvar
2
clinvar
17
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 15 2 0

Variants in OR2A7

This is a list of pathogenic ClinVar variants found in the OR2A7 region.

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

Position Type Phenotype Significance ClinVar
7-144258770-G-A not specified Uncertain significance (Apr 12, 2024)3302642
7-144258820-T-C not specified Uncertain significance (Mar 21, 2023)2524355
7-144258823-T-C not specified Uncertain significance (Aug 04, 2023)2616128
7-144258824-G-T not specified Uncertain significance (Aug 04, 2023)2616127
7-144258878-A-G not specified Uncertain significance (Mar 20, 2024)3302640
7-144258886-C-A not specified Uncertain significance (Feb 16, 2023)2485702
7-144258965-A-T not specified Uncertain significance (Oct 06, 2022)2412511
7-144259015-C-T not specified Uncertain significance (Aug 14, 2024)3410734
7-144259028-C-T not specified Uncertain significance (Oct 29, 2024)3410733
7-144259047-A-C not specified Uncertain significance (Nov 17, 2023)3205023
7-144259081-A-G not specified Uncertain significance (Nov 29, 2023)3205022
7-144259175-C-T not specified Uncertain significance (Apr 25, 2023)2540681
7-144259246-G-T not specified Uncertain significance (May 09, 2022)2389525
7-144259336-A-G not specified Likely benign (Mar 23, 2022)3205021
7-144259372-T-A not specified Uncertain significance (Mar 07, 2023)2468588
7-144259391-T-G not specified Uncertain significance (Feb 05, 2024)3205020
7-144259393-C-T not specified Likely benign (Jul 05, 2023)2597612
7-144259394-G-A not specified Uncertain significance (Mar 30, 2024)3302641
7-144259414-T-C not specified Uncertain significance (Feb 21, 2024)3205019
7-144259474-G-C not specified Uncertain significance (Jan 27, 2022)3205018
7-144259477-T-C not specified Uncertain significance (Nov 10, 2024)3410732
7-144259477-T-G not specified Uncertain significance (Jun 26, 2024)3410731
7-144259489-A-T not specified Uncertain significance (Feb 26, 2024)3205017
7-144259615-A-G not specified Uncertain significance (Dec 19, 2022)2337208

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
OR2A7protein_codingprotein_codingENST00000493325 11116
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.3700.58600000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.011061390.7600.000006941871
Missense in Polyphen3249.7050.6438723
Synonymous1.114757.70.8140.00000315617
Loss of Function1.5914.730.2122.45e-772

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

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)

Recessive Scores

pRec
0.0811

Haploinsufficiency Scores

pHI
hipred
hipred_score
ghis
0.396

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
gene_indispensability_pred
N
gene_indispensability_score
0.201

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Olfr13
Phenotype

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