OR8D2

olfactory receptor family 8 subfamily D member 2, the group of Olfactory receptors, family 8

Basic information

Region (hg38): 11:124319262-124320197

Links

ENSG00000279116NCBI:283160HGNC:8482Uniprot:Q9GZM6AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OR8D2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR8D2 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
1
clinvar
1
missense
25
clinvar
1
clinvar
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 25 2 0

Variants in OR8D2

This is a list of pathogenic ClinVar variants found in the OR8D2 region.

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

Position Type Phenotype Significance ClinVar
11-124319311-T-C not specified Uncertain significance (Apr 06, 2023)2533725
11-124319347-A-C not specified Uncertain significance (Jun 24, 2022)2345166
11-124319424-C-T not specified Uncertain significance (Jul 25, 2023)2588598
11-124319434-A-G not specified Uncertain significance (Apr 20, 2023)2539602
11-124319435-T-C not specified Uncertain significance (Apr 25, 2023)2540344
11-124319452-C-G not specified Uncertain significance (Jan 11, 2023)2475714
11-124319461-A-G not specified Uncertain significance (Dec 22, 2023)3206735
11-124319473-C-A not specified Uncertain significance (May 30, 2022)2293064
11-124319523-G-T Likely benign (Feb 01, 2023)2642494
11-124319603-G-T not specified Uncertain significance (May 23, 2023)2550610
11-124319641-G-C not specified Uncertain significance (Jul 16, 2021)2343462
11-124319675-T-A not specified Uncertain significance (Mar 29, 2023)2531535
11-124319680-G-A not specified Uncertain significance (Feb 15, 2023)2454866
11-124319705-C-T not specified Likely benign (Jun 01, 2022)2394586
11-124319789-A-T not specified Uncertain significance (Aug 04, 2021)2353173
11-124319822-T-C not specified Uncertain significance (Dec 05, 2022)2332805
11-124319836-T-G not specified Uncertain significance (Jun 10, 2024)3303424
11-124319863-C-T not specified Uncertain significance (Apr 12, 2024)3303423
11-124319906-T-C not specified Uncertain significance (Mar 21, 2023)2511252
11-124319958-C-G not specified Uncertain significance (Feb 05, 2024)3206733
11-124319974-G-T not specified Uncertain significance (Jul 05, 2022)2299778
11-124319987-G-A not specified Uncertain significance (Aug 04, 2023)2616289
11-124320004-T-C not specified Uncertain significance (Jun 23, 2023)2606040
11-124320047-G-A not specified Uncertain significance (May 09, 2023)2545417
11-124320092-C-T not specified Uncertain significance (Dec 17, 2023)3206732

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function
FUNCTION: Odorant receptor (Potential). May be involved in taste perception. {ECO:0000305}.;
Pathway
Olfactory transduction - Homo sapiens (human);GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Olfactory Signaling Pathway;G alpha (s) signalling events;GPCR downstream signalling (Consensus)

Intolerance Scores

loftool
0.426
rvis_EVS
0.62
rvis_percentile_EVS
83.25

Haploinsufficiency Scores

pHI
0.0577
hipred
N
hipred_score
0.203
ghis

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0274

Gene Damage Prediction

AllRecessiveDominant
MendelianHighMediumHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Olfr926
Phenotype

Gene ontology

Biological process
G protein-coupled receptor signaling pathway;sensory perception of smell;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;odorant binding