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.

not_specified (60 variants)

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. These statistics are base on transcript: NM_000030774.4. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			59 clinvar	1 clinvar		60
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	59	1	0

Loading clinvar variants...

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_CRISPR
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