SIGMAR1 sigma non-opioid intracellular receptor 1

Gene ID: 10280, updated on 3-Nov-2024
Gene type: protein coding
Also known as: SRBP; ALS16; DSMA2; HMNR2; OPRS1; SR-BP; SIG-1R; SR-BP1; sigma1R; hSigmaR1

Summary

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

See all available tests in GTR for this gene

Description	Tests
Amyotrophic lateral sclerosis type 16 MedGen: C3280587OMIM: 614373GeneReviews: Amyotrophic Lateral Sclerosis Overview	See labs
Autosomal recessive distal spinal muscular atrophy 2 MedGen: C1854023OMIM: 605726GeneReviews: Not available	See labs

Genomic context

Location:: 9p13.3

Sequence:: Chromosome: 9; NC_000009.12 (34634722..34637787, complement)

Total number of exons:: 4

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for SIGMAR1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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