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OPRM1

Synonyms
LMOR, M-OR-1, MOP, MOR, MOR1, OPRM
External resources
Summary
This gene encodes one of at least three opioid receptors in humans; the mu opioid receptor (MOR). The MOR is the principal target of endogenous opioid peptides and opioid analgesic agents such as beta-endorphin and enkephalins. The MOR also has an important role in dependence to other drugs of abuse, such as nicotine, cocaine, and alcohol via its modulation of the dopamine system. The NM_001008503.2:c.118A>G allele has been associated with opioid and alcohol addiction and variations in pain sensitivity but evidence for it having a causal role is conflicting. Multiple transcript variants encoding different isoforms have been found for this gene. Though the canonical MOR belongs to the superfamily of 7-transmembrane-spanning G-protein-coupled receptors some isoforms of this gene have only 6 transmembrane domains.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
32
Likely pathogenic
145
VUS
4,572
Likely benign
632
Benign
0

Patient Phenotypes

Proportions of phenotypes among 177 patients carrying pathogenic or likely pathogenic variants on OPRM1 gene are displayed below. The following symptoms were found in patients with a variant in OPRM1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
55.9%
Abnormality of the nervous system
32.8%
Abnormality of the musculoskeletal system
24.3%
Abnormality of head or neck
20.3%
Abnormality of the integument
13%
Growth abnormality
11.9%
Abnormality of the ear
9.6%
Abnormality of the genitourinary system
7.3%
Abnormality of limbs
6.2%
Abnormality of the cardiovascular system
5.1%
Abnormality of the endocrine system
5.1%
Abnormality of blood and blood forming tissues
4.5%
Abnormality of the immune system
4.5%
Abnormality of metabolism homeostasis
3.4%
Constitutional symptom
3.4%
Abnormality of the digestive system
2.8%
Abnormality of the respiratory system
2.3%
Abnormal cellular phenotype
1.1%
Neoplasm
1.1%
Abnormality of prenatal development or birth
0.6%
Abnormality of the voice
0.6%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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