OR12D2

olfactory receptor family 12 subfamily D member 2, the group of Olfactory receptors, family 12

Basic information

Region (hg38): 6:29395630-29398008

Links

ENSG00000280236 ∙ NCBI:26529 ∙ ∙ HGNC:8178 ∙ Uniprot:P58182 ∙ 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 OR12D2 gene.

• Inborn genetic diseases (9 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR12D2 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			9			9
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	0	0

Variants in OR12D2

This is a list of pathogenic ClinVar variants found in the OR12D2 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-29396730-C-A		not specified	Uncertain significance (Aug 03, 2022)
6-29396752-T-C		not specified	Uncertain significance (Dec 21, 2023)
6-29396870-G-A		not specified	Uncertain significance (Dec 12, 2023)
6-29396961-A-G		not specified	Uncertain significance (Jan 26, 2022)
6-29397084-C-T		not specified	Uncertain significance (Dec 22, 2023)
6-29397175-T-C		not specified	Uncertain significance (Jan 09, 2024)
6-29397204-T-G		not specified	Uncertain significance (Jun 21, 2023)
6-29397207-A-C		not specified	Uncertain significance (Mar 06, 2023)
6-29397211-G-A		not specified	Likely benign (Jan 09, 2024)
6-29397315-A-T		not specified	Uncertain significance (Feb 23, 2023)
6-29397348-T-C		not specified	Uncertain significance (Dec 11, 2023)
6-29397372-T-C		not specified	Uncertain significance (Feb 02, 2022)
6-29397405-G-A		not specified	Uncertain significance (Jun 28, 2023)
6-29397420-GC-G			Uncertain significance (Jan 14, 2016)
6-29397510-C-G		not specified	Uncertain significance (Aug 15, 2023)
6-29397526-T-C		not specified	Uncertain significance (Jan 23, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Odorant receptor. {ECO:0000305}.
• Pathway: Olfactory transduction - Homo sapiens (human);Signaling by GPCR;Signal Transduction;Olfactory Signaling Pathway;G alpha (s) signalling events;GPCR downstream signalling (Consensus)

Intolerance Scores

• loftool: 0.612
• rvis_EVS: 3.11
• rvis_percentile_EVS: 99.26

Haploinsufficiency Scores

• pHI: 0.0236
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00000328

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr102

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