Entity Details

Primary name SLC18A2
Entity type gene
Source Source Link

Details

PrimaryID6571
RefseqGene
SymbolSLC18A2
Namesolute carrier family 18 member A2
Chromosome10
Location10q25.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-17
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsVMAT2_HUMAN

GO terms

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GOName
GO:0001975 response to amphetamine
GO:0005335 serotonin:sodium symporter activity
GO:0005813 centrosome
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006836 neurotransmitter transport
GO:0007268 chemical synaptic transmission
GO:0007626 locomotory behavior
GO:0008021 synaptic vesicle
GO:0008504 monoamine transmembrane transporter activity
GO:0009636 response to toxic substance
GO:0009791 post-embryonic development
GO:0015842 aminergic neurotransmitter loading into synaptic vesicle
GO:0015844 monoamine transport
GO:0015872 dopamine transport
GO:0016020 membrane
GO:0022857 transmembrane transporter activity
GO:0030672 synaptic vesicle membrane
GO:0042137 sequestering of neurotransmitter
GO:0043195 terminal bouton
GO:0043231 intracellular membrane-bounded organelle
GO:0070083 clathrin-sculpted monoamine transport vesicle membrane
GO:0098691 dopaminergic synapse
GO:0098700 neurotransmitter loading into synaptic vesicle
GO:1903427 negative regulation of reactive oxygen species biosynthetic process

Diseases

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Disease IDSourceNameDescription
618049 OMIMParkinsonism-dystonia, infantile, 2 (PKDYS2)An autosomal recessive disorder characterized by infantile onset of abnormal movements, including parkinsonism, dystonia, and poor fine motor skills, as well as autonomic dysfunction, including abnormal sweating, cold extremities, and poor sleep. Some patients have variable degrees of developmental delay. The disease is caused by variants affecting the gene represented in this entry.