OR7D2

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

Basic information

Region (hg38): 19:9178979-9188818

Links

ENSG00000188000 ∙ NCBI:162998 ∙ ∙ HGNC:8378 ∙ Uniprot:Q96RA2 ∙ 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 OR7D2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR7D2 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	2		24
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	2	0

Variants in OR7D2

This is a list of pathogenic ClinVar variants found in the OR7D2 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-9185855-C-T		not specified	Uncertain significance (Jul 11, 2022)
19-9185948-A-C		not specified	Uncertain significance (Apr 08, 2024)
19-9185998-T-C		not specified	Uncertain significance (Aug 02, 2021)
19-9186066-G-A		not specified	Uncertain significance (Nov 18, 2022)
19-9186125-T-C		not specified	Uncertain significance (Nov 08, 2022)
19-9186157-G-C		not specified	Uncertain significance (Mar 02, 2023)
19-9186181-A-T		not specified	Uncertain significance (Apr 26, 2023)
19-9186206-G-A		not specified	Uncertain significance (Jul 15, 2021)
19-9186289-A-G		not specified	Uncertain significance (Mar 29, 2022)
19-9186310-T-G		not specified	Uncertain significance (Jan 20, 2023)
19-9186319-G-A		not specified	Uncertain significance (Nov 09, 2023)
19-9186326-C-T		not specified	Uncertain significance (Apr 23, 2024)
19-9186442-A-T		not specified	Uncertain significance (Jun 23, 2023)
19-9186467-C-G		not specified	Uncertain significance (May 13, 2024)
19-9186475-G-A		not specified	Uncertain significance (Sep 14, 2022)
19-9186475-G-C		not specified	Uncertain significance (Dec 15, 2023)
19-9186517-T-C		not specified	Uncertain significance (Nov 30, 2021)
19-9186527-C-G		not specified	Uncertain significance (Aug 08, 2022)
19-9186536-A-G		not specified	Uncertain significance (Dec 27, 2022)
19-9186556-C-T		not specified	Likely benign (Oct 26, 2021)
19-9186563-C-T		not specified	Uncertain significance (Aug 17, 2022)
19-9186575-C-T		not specified	Uncertain significance (Jan 05, 2022)
19-9186586-C-G		not specified	Uncertain significance (Sep 29, 2023)
19-9186598-G-A		not specified	Uncertain significance (Mar 06, 2023)
19-9186650-A-G		not specified	Uncertain significance (Apr 04, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR7D2	protein_coding	protein_coding	ENST00000344248	1	3215

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	0.149	167	173	0.968	0.00000891	2042
Missense in Polyphen		54	46.838	1.1529		576
Synonymous	0.526	71	76.9	0.924	0.00000462	658
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: 0.0947

Intolerance Scores

• loftool: 0.639
• rvis_EVS: -0.2
• rvis_percentile_EVS: 38.82

Haploinsufficiency Scores

• pHI: 0.128
• hipred: N
• hipred_score: 0.112
• ghis: 0.410

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0977

Gene Damage Prediction

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

Gene ontology

• Biological process: regulation of transcription, DNA-templated;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