OR5H2

olfactory receptor family 5 subfamily H member 2, the group of Olfactory receptors, family 5

Basic information

Region (hg38): 3:98282505-98284070

Links

ENSG00000197938 ∙ NCBI:79310 ∙ ∙ HGNC:14752 ∙ Uniprot:Q8NGV7 ∙ 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 OR5H2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR5H2 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			13	2		15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2			2
Total	0	0	15	2	0

Variants in OR5H2

This is a list of pathogenic ClinVar variants found in the OR5H2 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-98282892-C-T		not specified	Uncertain significance (Nov 13, 2023)
3-98282900-G-T		not specified	Uncertain significance (Feb 14, 2023)
3-98283030-T-C		not specified	Uncertain significance (Aug 11, 2022)
3-98283044-C-T		not specified	Uncertain significance (Jul 19, 2022)
3-98283179-T-A		not specified	Uncertain significance (Aug 16, 2022)
3-98283237-G-A		not specified	Uncertain significance (Aug 10, 2023)
3-98283296-T-C		not specified	Uncertain significance (Jul 20, 2021)
3-98283387-T-A		not specified	Uncertain significance (Jan 31, 2022)
3-98283423-T-C		not specified	Uncertain significance (Apr 07, 2022)
3-98283533-A-G		not specified	Uncertain significance (Dec 13, 2023)
3-98283573-C-T			Likely benign (Oct 01, 2023)
3-98283585-A-G		not specified	Uncertain significance (Apr 05, 2023)
3-98283690-C-A		not specified	Uncertain significance (Mar 04, 2024)
3-98283693-C-A		not specified	Uncertain significance (Jan 04, 2022)
3-98283761-C-A		not specified	Uncertain significance (Dec 28, 2023)
3-98283776-C-G		not specified	Uncertain significance (Nov 16, 2021)
3-98283788-C-A		not specified	Likely benign (Dec 28, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR5H2	protein_coding	protein_coding	ENST00000355273	1	945

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000235	0.324	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.590	183	162	1.13	0.00000756	2070
Missense in Polyphen		44	40.574	1.0844		550
Synonymous	0.108	56	57.0	0.982	0.00000254	623
Loss of Function	-0.328	5	4.27	1.17	1.82e-7	62

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;Signaling by GPCR;Signal Transduction;Olfactory Signaling Pathway;G alpha (s) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.0846

Intolerance Scores

• loftool: 0.886
• rvis_EVS: 1.62
• rvis_percentile_EVS: 95.96

Haploinsufficiency Scores

• pHI: 0.0909
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0976

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr196

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;sensory perception of smell;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;odorant binding