GOSR2 golgi SNAP receptor complex member 2
Gene ID: 9570, updated on 27-Nov-2024Gene type: protein coding
Also known as: Bos1; EPM6; GS27; MYOS
- See all available tests in GTR for this gene
- Go to complete Gene record for GOSR2
- Go to Variation Viewer for GOSR2 variants
Summary
This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. [provided by RefSeq, Mar 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. GeneReviews: Not available | |
| Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. GeneReviews: Not available | |
| Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. GeneReviews: Not available | |
| Muscular dystrophy, congenital, with or without seizures | See labs |
| Progressive myoclonic epilepsy type 6 | See labs |
Genomic context
- Location:
- 17q21.32
- Sequence:
- Chromosome: 17; NC_000017.11 (46923160..46975890)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GOSR2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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