Entity Details

Primary name SLC1A2
Entity type gene
Source Source Link

Details

PrimaryID6506
RefseqGeneNG_008727
SymbolSLC1A2
Namesolute carrier family 1 member 2
Chromosome11
Location11p13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-17
ModificationDate2021-06-13

Ontological Relatives

UniProt IDsEAA2_HUMAN

GO terms

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GOName
GO:0005313 L-glutamate transmembrane transporter activity
GO:0005314 high-affinity glutamate transmembrane transporter activity
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006811 ion transport
GO:0006836 neurotransmitter transport
GO:0007268 chemical synaptic transmission
GO:0009986 cell surface
GO:0015501 glutamate:sodium symporter activity
GO:0015813 L-glutamate transmembrane transport
GO:0016020 membrane
GO:0044297 cell body
GO:0045121 membrane raft
GO:0046872 metal ion binding
GO:0070207 protein homotrimerization
GO:0070633 transepithelial transport
GO:0070778 L-aspartate transmembrane transport
GO:0070779 D-aspartate import across plasma membrane
GO:0097449 astrocyte projection
GO:0098712 L-glutamate import across plasma membrane
GO:0098796 membrane protein complex
GO:0099056 integral component of presynaptic membrane
GO:0150104 transport across blood-brain barrier

Diseases

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Disease IDSourceNameDescription
617105 OMIMDevelopmental and epileptic encephalopathy 41 (DEE41)A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE41 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.