SLC6A2 solute carrier family 6 member 2
Gene ID: 6530, updated on 27-Nov-2024Gene type: protein coding
Also known as: NET; NAT1; NET1; SLC6A5
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC6A2
- Go to Variation Viewer for SLC6A2 variants
Summary
This gene encodes a member of the sodium:neurotransmitter symporter family. This member is a multi-pass membrane protein, which is responsible for reuptake of norepinephrine into presynaptic nerve terminals and is a regulator of norepinephrine homeostasis. Mutations in this gene cause orthostatic intolerance, a syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Neurocirculatory asthenia | See labs |
Genomic context
- Location:
- 16q12.2
- Sequence:
- Chromosome: 16; NC_000016.10 (55655988..55706192)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC6A2 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
- SLC6A2 database
- Variation ViewerRelated Variants
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