SLC1A2 Chromosome 11

Solute carrier family 1 member 2
24 variants 24 Health Risk

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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
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
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