OR2T34

olfactory receptor family 2 subfamily T member 34, the group of Olfactory receptors, family 2

Basic information

Region (hg38): 1:248573801-248574757

Links

ENSG00000183310 ∙ NCBI:127068 ∙ ∙ HGNC:31256 ∙ Uniprot:Q8NGX1 ∙ 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 OR2T34 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR2T34 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				2		2
missense			36	1		37
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	36	3	0

Variants in OR2T34

This is a list of pathogenic ClinVar variants found in the OR2T34 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-248573824-A-G		not specified	Uncertain significance (Sep 15, 2021)
1-248573910-T-G		not specified	Uncertain significance (Dec 20, 2023)
1-248573916-G-C		not specified	Uncertain significance (Oct 26, 2021)
1-248573934-T-G		not specified	Uncertain significance (Dec 06, 2024)
1-248573977-A-G		not specified	Uncertain significance (Feb 21, 2025)
1-248574015-G-A		not specified	Uncertain significance (Sep 16, 2021)
1-248574018-G-C		not specified	Uncertain significance (Aug 01, 2022)
1-248574040-T-C		not specified	Uncertain significance (Aug 30, 2022)
1-248574043-G-T		not specified	Uncertain significance (Oct 29, 2021)
1-248574051-G-C		not specified	Uncertain significance (Mar 15, 2024)
1-248574076-G-A		not specified	Uncertain significance (Sep 04, 2024)
1-248574088-T-C		not specified	Uncertain significance (Oct 22, 2021)
1-248574091-A-G		not specified	Uncertain significance (Mar 15, 2024)
1-248574096-C-A		not specified	Uncertain significance (Aug 16, 2021)
1-248574109-T-C		not specified	Uncertain significance (Feb 21, 2025)
1-248574118-T-C		not specified	Likely benign (Mar 01, 2023)
1-248574169-C-T		not specified	Uncertain significance (May 03, 2023)
1-248574193-G-T		not specified	Uncertain significance (Sep 11, 2024)
1-248574207-C-A		not specified	Uncertain significance (Dec 25, 2024)
1-248574259-T-C		not specified	Uncertain significance (Dec 03, 2021)
1-248574321-C-A		not specified	Uncertain significance (Jul 31, 2023)
1-248574324-A-T		not specified	Uncertain significance (Feb 10, 2022)
1-248574350-A-G			Likely benign (Jan 01, 2023)
1-248574369-G-A		not specified	Uncertain significance (Jun 26, 2024)
1-248574388-C-A		not specified	Uncertain significance (Sep 03, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR2T34	protein_coding	protein_coding	ENST00000328782	1	1059

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	-1.07	204	165	1.23	0.00000847	2034
Missense in Polyphen		59	44.587	1.3233		617
Synonymous	-0.0543	68	67.4	1.01	0.00000364	639
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)

Intolerance Scores

• loftool: 0.863
• rvis_EVS: 1.04
• rvis_percentile_EVS: 91.26

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.318

Essentials

• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

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