OR56A5

olfactory receptor family 56 subfamily A member 5, the group of Olfactory receptors, family 56

Basic information

Region (hg38): 11:5967553-5968494

Previous symbols: [ "OR56A5P" ]

Links

ENSG00000188691 ∙ NCBI:390084 ∙ ∙ HGNC:14792 ∙ Uniprot:P0C7T3 ∙ 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 OR56A5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR56A5 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			15	2	1	18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	2	1

Variants in OR56A5

This is a list of pathogenic ClinVar variants found in the OR56A5 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-5967683-A-G			Benign (Jul 01, 2022)
11-5967700-G-C		not specified	Uncertain significance (Jan 23, 2023)
11-5967702-T-C		not specified	Uncertain significance (Apr 28, 2023)
11-5967726-C-A		not specified	Uncertain significance (May 27, 2022)
11-5967729-T-C		not specified	Uncertain significance (Dec 20, 2021)
11-5967756-G-A		not specified	Uncertain significance (Oct 02, 2023)
11-5967806-C-T		not specified	Uncertain significance (Dec 08, 2023)
11-5967825-T-C		not specified	Uncertain significance (Jun 22, 2023)
11-5967942-C-T		not specified	Likely benign (Aug 02, 2021)
11-5967958-G-C		not specified	Uncertain significance (Nov 17, 2023)
11-5968004-A-G		not specified	Uncertain significance (Sep 20, 2023)
11-5968094-T-C		not specified	Likely benign (Jan 30, 2024)
11-5968149-A-G		not specified	Uncertain significance (Aug 26, 2022)
11-5968151-G-A		not specified	Uncertain significance (May 03, 2023)
11-5968158-T-C		not specified	Uncertain significance (Mar 20, 2024)
11-5968181-A-G		not specified	Uncertain significance (Oct 22, 2021)
11-5968229-C-G		not specified	Uncertain significance (Mar 25, 2022)
11-5968349-A-G		not specified	Uncertain significance (May 20, 2024)
11-5968371-T-C		not specified	Uncertain significance (Apr 29, 2022)
11-5968412-T-C		not specified	Uncertain significance (Sep 20, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Odorant receptor. {ECO:0000305}.
• Pathway: Olfactory transduction - Homo sapiens (human);Signaling by GPCR;Signal Transduction;Olfactory Signaling Pathway;G alpha (s) signalling events;GPCR downstream signalling (Consensus)

Mouse Genome Informatics

• Gene name: Olfr683

Gene ontology

• Biological process: synaptic transmission, dopaminergic;adenylate cyclase-modulating G protein-coupled receptor signaling pathway;adenylate cyclase-inhibiting dopamine receptor signaling pathway;regulation of dopamine secretion;response to drug;behavioral response to cocaine;detection of chemical stimulus involved in sensory perception of smell;adenylate cyclase-activating adrenergic receptor signaling pathway
• Cellular component: plasma membrane;integral component of plasma membrane
• Molecular function: dopamine neurotransmitter receptor activity, coupled via Gi/Go;adrenergic receptor activity;olfactory receptor activity;dopamine binding