SIGMAR1 Chromosome 9
Sigma non-opioid intracellular receptor 1
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What This Gene Does
This gene encodes a receptor protein that interacts with a variety of psychotomimetic drugs, including cocaine and amphetamines. The receptor is believed to play an important role in the cellular functions of various tissues associated with the endocrine, immune, and nervous systems. As indicated by its previous name, opioid receptor sigma 1 (OPRS1), the product of this gene was erroneously thought to function as an opioid receptor; it is now thought to be a non-opioid receptor. Mutations in this gene has been associated with juvenile amyotrophic lateral sclerosis 16. Alternative splicing of this gene results in transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2013]
Associated Conditions (5)
Amyotrophic lateral sclerosis type 16
Autosomal recessive distal spinal muscular atrophy 2
Inborn genetic diseases
Gastric cancer
Cervical cancer
Key Variants
RS1419128565
Conflicting classifications of pathogenicity
Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16
Health Risk
RS192644838
Conflicting classifications of pathogenicity
Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16, Inborn genetic diseases
Health Risk
RS200076129
Conflicting classifications of pathogenicity
Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16, Inborn genetic diseases
Health Risk
RS1554707622
Likely pathogenic
Amyotrophic lateral sclerosis type 16, Amyotrophic lateral sclerosis type 16
Health Risk
RS1554707680
Likely pathogenic
Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16
Health Risk
RS1820836522
Likely pathogenic
Amyotrophic lateral sclerosis type 16, Amyotrophic lateral sclerosis type 16
Health Risk
RS2132323906
Likely pathogenic
Amyotrophic lateral sclerosis type 16, Amyotrophic lateral sclerosis type 16
Health Risk
RS2132329744
Likely pathogenic
Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16
Health Risk
RS757260058
Likely pathogenic
Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16
Health Risk
RS1242817438
Pathogenic
Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2
Health Risk
RS1449250083
Pathogenic
Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2
Health Risk
RS1564096221
Pathogenic
Autosomal recessive distal spinal muscular atrophy 2, Autosomal recessive distal spinal muscular atrophy 2
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1419128565 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16 |
| RS192644838 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16, Inborn genetic diseases |
| RS200076129 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16, Inborn genetic diseases |
| RS1554707622 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 16, Amyotrophic lateral sclerosis type 16 |
| RS1554707680 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16 |
| RS1820836522 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 16, Amyotrophic lateral sclerosis type 16 |
| RS2132323906 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 16, Amyotrophic lateral sclerosis type 16 |
| RS2132329744 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16 |
| RS757260058 | Health Risk | Likely pathogenic | Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16 |
| RS1242817438 | Health Risk | Pathogenic | Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2 |
| RS1449250083 | Health Risk | Pathogenic | Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2 |
| RS1564096221 | Health Risk | Pathogenic | Autosomal recessive distal spinal muscular atrophy 2, Autosomal recessive distal spinal muscular atrophy 2 |
| RS1564096761 | Health Risk | Pathogenic | Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2 |
| RS1820936580 | Health Risk | Pathogenic | Inborn genetic diseases, Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2 |
| RS2492811707 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16 |
| RS2492828821 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16 |
| RS387906829 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 16, Inborn genetic diseases, Autosomal recessive distal spinal muscular atrophy 2 |
| RS755994483 | Health Risk | Pathogenic | Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2 |
| RS780136067 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16 |
| RS796065352 | Health Risk | Pathogenic | Autosomal recessive distal spinal muscular atrophy 2, Autosomal recessive distal spinal muscular atrophy 2 |
| RS140376902 | Health Risk | Pathogenic/Likely pathogenic | Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16 |
| RS747285235 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16, Inborn genetic diseases |