OR10H2

olfactory receptor family 10 subfamily H member 2, the group of Olfactory receptors, family 10

Basic information

Region (hg38): 19:15728023-15729052

Links

ENSG00000171942 ∙ NCBI:26538 ∙ ∙ HGNC:8173 ∙ Uniprot:O60403 ∙ 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 OR10H2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR10H2 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			35			35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	35	0	0

Variants in OR10H2

This is a list of pathogenic ClinVar variants found in the OR10H2 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-15728050-G-A		not specified	Uncertain significance (Apr 04, 2023)
19-15728080-A-T		not specified	Uncertain significance (Jan 08, 2024)
19-15728086-G-C		not specified	Uncertain significance (Sep 22, 2022)
19-15728171-T-C		not specified	Uncertain significance (Dec 06, 2022)
19-15728200-C-T		not specified	Uncertain significance (Aug 28, 2023)
19-15728213-C-T		not specified	Uncertain significance (Aug 30, 2021)
19-15728221-T-C		not specified	Uncertain significance (Jun 05, 2023)
19-15728251-G-C		not specified	Uncertain significance (Apr 19, 2023)
19-15728311-C-T		not specified	Uncertain significance (May 11, 2022)
19-15728315-C-T		not specified	Uncertain significance (Aug 02, 2021)
19-15728320-G-A		not specified	Uncertain significance (Sep 17, 2021)
19-15728321-C-T		not specified	Uncertain significance (Oct 03, 2022)
19-15728378-C-T		not specified	Uncertain significance (Jun 22, 2021)
19-15728404-G-A		not specified	Uncertain significance (Oct 13, 2021)
19-15728408-G-A		not specified	Uncertain significance (Dec 12, 2023)
19-15728413-G-T		not specified	Uncertain significance (Feb 27, 2024)
19-15728419-A-G		not specified	Uncertain significance (Aug 09, 2021)
19-15728449-A-G		not specified	Uncertain significance (Oct 03, 2022)
19-15728453-G-A		not specified	Uncertain significance (Feb 22, 2023)
19-15728458-C-T		not specified	Uncertain significance (Jun 11, 2021)
19-15728501-C-T		not specified	Uncertain significance (Mar 01, 2023)
19-15728563-A-G		not specified	Uncertain significance (Dec 08, 2023)
19-15728570-A-T		not specified	Uncertain significance (Jun 11, 2021)
19-15728605-G-A		not specified	Uncertain significance (Apr 12, 2023)
19-15728611-G-A		not specified	Uncertain significance (May 05, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR10H2	protein_coding	protein_coding	ENST00000305899	1	1029

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00245	0.560	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.00485	194	194	1.00	0.0000116	2032
Missense in Polyphen		70	68.221	1.0261		819
Synonymous	-2.15	112	86.6	1.29	0.00000553	690
Loss of Function	0.285	4	4.66	0.858	1.99e-7	54

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Odorant receptor. {ECO:0000305}.
• Pathway: Olfactory transduction - Homo sapiens (human);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)

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.503
• rvis_EVS: 0.64
• rvis_percentile_EVS: 84.05

Haploinsufficiency Scores

• pHI: 0.127
• hipred: N
• hipred_score: 0.139

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.112

Gene Damage Prediction

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

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;chemical synaptic transmission;detection of chemical stimulus involved in sensory perception of smell;G protein-coupled serotonin receptor signaling pathway
• Cellular component: plasma membrane;integral component of plasma membrane;dendrite
• Molecular function: G protein-coupled receptor activity;olfactory receptor activity;G protein-coupled serotonin receptor activity;neurotransmitter receptor activity