SLC1A2 Chromosome 11
Solute carrier family 1 member 2
Upload your DNA to see your personal genotypes for variants in SLC1A2.
What This Gene Does
This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Improper regulation of this gene is thought to be associated with several neurological disorders. Alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2017]
Gene Info
Gene Group
Solute carrier family 1
Locus Type
gene with protein product
Location
11p13
Ensembl
ENSG00000110436
Associated Conditions (4)
Inborn genetic diseases
Developmental and epileptic encephalopathy
41
SLC1A2-related disorder
Key Variants
RS1245610941
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1326870463
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 41, Developmental and epileptic encephalopathy
Health Risk
RS1364953579
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142741081
Conflicting classifications of pathogenicity
SLC1A2-related disorder, SLC1A2-related disorder
Health Risk
RS145827578
Conflicting classifications of pathogenicity
Inborn genetic diseases, SLC1A2-related disorder, Inborn genetic diseases
Health Risk
RS200754925
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 41, Developmental and epileptic encephalopathy
Health Risk
RS201446570
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 41, Inborn genetic diseases
Health Risk
RS371540867
Conflicting classifications of pathogenicity
Health Risk
RS377114527
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS746081104
Conflicting classifications of pathogenicity
Health Risk
RS748628129
Conflicting classifications of pathogenicity
Health Risk
RS752426667
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1245610941 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1326870463 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 41, Developmental and epileptic encephalopathy |
| RS1364953579 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142741081 | Health Risk | Conflicting classifications of pathogenicity | SLC1A2-related disorder, SLC1A2-related disorder |
| RS145827578 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, SLC1A2-related disorder, Inborn genetic diseases |
| RS200754925 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 41, Developmental and epileptic encephalopathy |
| RS201446570 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 41, Inborn genetic diseases |
| RS371540867 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS377114527 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS746081104 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS748628129 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS752426667 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS766885690 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 41, Inborn genetic diseases |
| RS886037943 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 41, Inborn genetic diseases |
| RS892203135 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 41, Developmental and epileptic encephalopathy |
| RS932831703 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS980878522 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 41, Developmental and epileptic encephalopathy |
| RS1431104151 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 41, Developmental and epileptic encephalopathy |
| RS2497617328 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 41, Developmental and epileptic encephalopathy |
| RS2497774921 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 41, Developmental and epileptic encephalopathy |
| RS2497830626 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 41, Developmental and epileptic encephalopathy |
| RS2497859234 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 41, Developmental and epileptic encephalopathy |
| RS886037942 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 41, Developmental and epileptic encephalopathy |
| RS781379291 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 41, Developmental and epileptic encephalopathy |