OR51E2

olfactory receptor family 51 subfamily E member 2, the group of Olfactory receptors, family 51

Basic information

Region (hg38): 11:4680171-4697854

Links

ENSG00000167332 ∙ NCBI:81285 ∙ OMIM:611268 ∙ HGNC:15195 ∙ Uniprot:Q9H255 ∙ 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 OR51E2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR51E2 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			21			21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	0	0

Variants in OR51E2

This is a list of pathogenic ClinVar variants found in the OR51E2 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-4681775-C-T		not specified	Uncertain significance (Nov 21, 2022)
11-4681801-G-A		not specified	Uncertain significance (May 01, 2024)
11-4681810-C-T		not specified	Uncertain significance (May 30, 2023)
11-4681811-G-A		not specified	Uncertain significance (Mar 18, 2024)
11-4681813-G-A		not specified	Uncertain significance (Jul 08, 2022)
11-4681900-A-G		not specified	Uncertain significance (Jan 24, 2024)
11-4681910-G-A		not specified	Uncertain significance (Jul 06, 2021)
11-4681964-A-G		not specified	Uncertain significance (Mar 06, 2023)
11-4682015-G-C		not specified	Uncertain significance (Apr 05, 2023)
11-4682022-C-A		not specified	Uncertain significance (Nov 14, 2023)
11-4682068-A-G		not specified	Uncertain significance (Jun 01, 2023)
11-4682084-C-T		not specified	Uncertain significance (Jan 03, 2022)
11-4682200-T-C		not specified	Uncertain significance (Dec 28, 2022)
11-4682248-A-T		not specified	Uncertain significance (Sep 22, 2022)
11-4682263-C-T		not specified	Uncertain significance (Jun 13, 2023)
11-4682276-C-T		not specified	Uncertain significance (Oct 26, 2021)
11-4682303-T-C		not specified	Uncertain significance (Nov 10, 2022)
11-4682372-G-C		not specified	Uncertain significance (Mar 29, 2024)
11-4682437-C-A		not specified	Uncertain significance (Dec 07, 2021)
11-4682468-C-T		not specified	Uncertain significance (Jan 08, 2024)
11-4682539-A-G		not specified	Uncertain significance (Aug 21, 2023)
11-4682563-G-A		not specified	Uncertain significance (Oct 27, 2023)
11-4682582-C-T		not specified	Uncertain significance (Jun 07, 2023)
11-4682618-A-G		not specified	Uncertain significance (Apr 06, 2024)
11-4682687-C-T		not specified	Uncertain significance (Mar 25, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR51E2	protein_coding	protein_coding	ENST00000396950	1	17684

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000153	0.447	125690	1	54	125745	0.000219

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.50	242	185	1.31	0.0000112	2076
Missense in Polyphen		93	74.13	1.2546		863
Synonymous	-2.02	92	70.4	1.31	0.00000401	695
Loss of Function	0.241	6	6.67	0.899	4.74e-7	74

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000694	0.000694
Ashkenazi Jewish	0.00	0.00
East Asian	0.000435	0.000381
Finnish	0.00	0.00
European (Non-Finnish)	0.000158	0.000158
Middle Eastern	0.000435	0.000381
South Asian	0.000163	0.000163
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable G protein-coupled receptor that is activated by the short chain fatty acids (SCFA) acetate and propionate. In response to SCFA, may positively regulate renin secretion and increase blood pressure (PubMed:23401498). May also be activated by steroid hormones and regulate cell proliferation (PubMed:19389702). May also function as an olfactory receptor being activated by beta-ionone (PubMed:19389702). {ECO:0000269|PubMed:19389702, ECO:0000269|PubMed:23401498}.
• 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: 0.112

Intolerance Scores

• loftool: 0.654
• rvis_EVS: 0.13
• rvis_percentile_EVS: 63.36

Haploinsufficiency Scores

• pHI: 0.201
• hipred: N
• hipred_score: 0.248
• ghis: 0.444

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.351

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Olfr78
• Phenotype: taste/olfaction phenotype; growth/size/body region phenotype; craniofacial phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); respiratory system phenotype

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;steroid hormone mediated signaling pathway;positive regulation of blood pressure;detection of chemical stimulus involved in sensory perception of smell;cellular response to fatty acid;positive regulation of renin secretion into blood stream
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: steroid hormone receptor activity;G protein-coupled receptor activity;olfactory receptor activity;signaling receptor activity