OR2H1

olfactory receptor family 2 subfamily H member 1, the group of Olfactory receptors, family 2

Basic information

Region (hg38): 6:29457155-29464328

Previous symbols: [ "OR2H6", "OR2H8" ]

Links

ENSG00000204688 ∙ NCBI:26716 ∙ ∙ HGNC:8252 ∙ Uniprot:Q9GZK4 ∙ 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 OR2H1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR2H1 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	4		19
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	4	0

Variants in OR2H1

This is a list of pathogenic ClinVar variants found in the OR2H1 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-29461783-G-C		not specified	Uncertain significance (Feb 07, 2023)
6-29461911-G-T		not specified	Likely benign (Feb 21, 2024)
6-29461939-T-G		not specified	Uncertain significance (Mar 06, 2023)
6-29461942-A-G		not specified	Uncertain significance (Apr 19, 2024)
6-29462128-G-A		not specified	Uncertain significance (Dec 15, 2022)
6-29462178-C-T		not specified	Likely benign (Jun 07, 2024)
6-29462211-G-T		not specified	Uncertain significance (Feb 21, 2024)
6-29462242-C-T		not specified	Uncertain significance (Aug 30, 2022)
6-29462258-C-G		not specified	Uncertain significance (Jul 09, 2021)
6-29462272-C-G		not specified	Uncertain significance (Dec 02, 2022)
6-29462329-G-A		not specified	Uncertain significance (Jan 23, 2024)
6-29462370-A-G		not specified	Uncertain significance (Oct 05, 2023)
6-29462376-A-G		not specified	Uncertain significance (Nov 21, 2023)
6-29462421-G-A		not specified	Uncertain significance (Jun 30, 2022)
6-29462488-C-T		not specified	Uncertain significance (Aug 26, 2022)
6-29462575-G-A		not specified	Uncertain significance (May 18, 2023)
6-29462611-C-G			Likely benign (Feb 01, 2023)
6-29462668-G-A		not specified	Uncertain significance (Oct 26, 2021)
6-29462677-T-G		not specified	Uncertain significance (Jul 14, 2021)
6-29462689-G-A		not specified	Likely benign (Jul 19, 2023)
6-29462712-G-A		not specified	Likely benign (Sep 27, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR2H1	protein_coding	protein_coding	ENST00000377136	1	7148

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.535	0.452	122950	17	747	123714	0.00309

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.457	173	157	1.10	0.00000762	2019
Missense in Polyphen		46	46.352	0.99241		670
Synonymous	0.711	61	68.5	0.891	0.00000348	690
Loss of Function	1.98	1	6.41	0.156	4.30e-7	55

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00110	0.00109
Ashkenazi Jewish	0.00	0.00
East Asian	0.0208	0.0205
Finnish	0.00	0.00
European (Non-Finnish)	0.000163	0.000162
Middle Eastern	0.0208	0.0205
South Asian	0.0115	0.0113
Other	0.00198	0.00197

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Odorant receptor. {ECO:0000305}.
• Pathway: Olfactory transduction - Homo sapiens (human);GPCRs, Other;Olfactory receptor activity;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: 0.797
• rvis_EVS: 1.59
• rvis_percentile_EVS: 95.84

Haploinsufficiency Scores

• pHI: 0.0775
• hipred: N
• hipred_score: 0.112
• ghis: 0.394

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.104

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr93

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