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.

• not_specified (52 variants)
• not_provided (1 variants)

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. These statistics are base on transcript: NM_001146033.1. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			49	3	1	53
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	49	3	1

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