OR51A2

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

Basic information

Region (hg38): 11:4954771-4955713

Links

ENSG00000205496 ∙ NCBI:401667 ∙ ∙ HGNC:14764 ∙ Uniprot:Q8NGJ7 ∙ 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 OR51A2 gene.

• Inborn genetic diseases (13 variants)
• not specified (1 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR51A2 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			12	2	1	15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	2	1

Variants in OR51A2

This is a list of pathogenic ClinVar variants found in the OR51A2 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-4954816-T-C		not specified	Uncertain significance (Jun 21, 2023)
11-4954915-C-G		not specified	Benign (Mar 28, 2016)
11-4954923-C-G		not specified	Uncertain significance (Oct 04, 2022)
11-4954974-C-T		not specified	Uncertain significance (Mar 21, 2022)
11-4955004-T-C		not specified	Uncertain significance (Apr 27, 2023)
11-4955038-C-T		not specified	Uncertain significance (Sep 14, 2023)
11-4955055-G-A		not specified	Likely benign (Aug 20, 2023)
11-4955080-A-C		not specified	Uncertain significance (Jul 14, 2022)
11-4955129-T-A		not specified	Uncertain significance (Feb 27, 2024)
11-4955203-A-C		not specified	Uncertain significance (Nov 28, 2023)
11-4955255-C-A		not specified	Uncertain significance (Sep 22, 2022)
11-4955418-C-G		not specified	Uncertain significance (Jun 06, 2023)
11-4955500-C-T			Likely benign (Feb 01, 2023)
11-4955504-C-A		not specified	Uncertain significance (Jun 24, 2022)
11-4955515-T-G		not specified	Uncertain significance (Oct 13, 2023)
11-4955559-T-C		not specified	Uncertain significance (Feb 22, 2023)
11-4955578-T-C		not specified	Uncertain significance (Feb 23, 2023)
11-4955694-G-A		not specified	Uncertain significance (Jun 16, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR51A2	protein_coding	protein_coding	ENST00000380371	1	942

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.416	143	158	0.907	0.00000712	1983
Missense in Polyphen		25	38.888	0.64287		568
Synonymous	0.263	59	61.6	0.957	0.00000291	635
Loss of Function

LoF frequencies by population

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

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: 0.0895

Intolerance Scores

• loftool: 0.369
• rvis_EVS: 3.75
• rvis_percentile_EVS: 99.6

Haploinsufficiency Scores

• pHI: 0.103
• hipred: N
• hipred_score: 0.255

Essentials

• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0890

Gene Damage Prediction

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

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