SLC18A2
Synaptic vesicular amine transporter
Also known as: SVAT, SVMT, VMAT2, VMAT2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q05940
- Gene
- SLC18A2
- Ensembl
- ENSG00000165646
- Chromosome
- 10
- Canonical length
- 514 aa
- Protein class
- Disease related genes, FDA approved drug targets, Metabolic proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Vesicles,Centrosome
OverviewNCBI Gene
This gene encodes an transmembrane protein that functions as an ATP-dependent transporter of monoamines, such as dopamine, norepinephrine, serotonin, and histamine. This protein transports amine neurotransmitters into synaptic vesicles. Polymorphisms in this gene may be associated with schizophrenia, bipolar disorder, and other neurological/psychiatric ailments. [provided by RefSeq, Jun 2018]
Canonical amino-acid sequenceUniProt
514 residues, UniProt reviewed canonical sequence.
>Q05940|SLC18A2
1 MALSELALVR WLQESRRSRK LILFIVFLAL LLDNMLLTVV VPIIPSYLYS IKHEKNATEI
61 QTARPVHTAS ISDSFQSIFS YYDNSTMVTG NATRDLTLHQ TATQHMVTNA SAVPSDCPSE
121 DKDLLNENVQ VGLLFASKAT VQLITNPFIG LLTNRIGYPI PIFAGFCIMF VSTIMFAFSS
181 SYAFLLIARS LQGIGSSCSS VAGMGMLASV YTDDEERGNV MGIALGGLAM GVLVGPPFGS
241 VLYEFVGKTA PFLVLAALVL LDGAIQLFVL QPSRVQPESQ KGTPLTTLLK DPYILIAAGS
301 ICFANMGIAM LEPALPIWMM ETMCSRKWQL GVAFLPASIS YLIGTNIFGI LAHKMGRWLC
361 ALLGMIIVGV SILCIPFAKN IYGLIAPNFG VGFAIGMVDS SMMPIMGYLV DLRHVSVYGS
421 VYAIADVAFC MGYAIGPSAG GAIAKAIGFP WLMTIIGIID ILFAPLCFFL RSPPAKEEKM
481 AILMDHNCPI KTKMYTQNNI QSYPIGEDEE SESDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC18A2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 12
- Mean surface accessibility (rSASA)
- 0.3
- Highest tissue expression
- 36 nTPM
Expression across tissuesHPA
Tissue
- midbrain: 36 nTPM
- cervix: 28 nTPM
- adrenal gland: 14 nTPM
- ovary: 12 nTPM
- hypothalamus: 10 nTPM
- prostate: 8.6 nTPM
Single-cell type
- mast cells: 648 nCPM
- endometrial glandular cells: 307 nCPM
- adrenal medulla cells: 138 nCPM
- platelets: 88 nCPM
- neuroendocrine cells: 79 nCPM
- other brain neurons: 67 nCPM
Immune cell
- basophil: 60 nTPM
- plasmacytoid DC: 3.8 nTPM
- total PBMC: 2 nTPM
- eosinophil: 0.8 nTPM
- naive CD8 T-cell: 0.6 nTPM
- neutrophil: 0.3 nTPM
Brain region
- midbrain: 173 nTPM
- pons: 150 nTPM
- hypothalamus: 48 nTPM
- thalamus: 11 nTPM
- medulla oblongata: 8.8 nTPM
- basal ganglia: 3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC18A2.
Disease | AllUniProt
Conditions SLC18A2 is implicated in, by any mechanism.
- Parkinsonism-dystonia 2, infantile-onset (PKDYS2) MIM:618049
Disease | GeneticClinVar
14 pathogenic / likely-pathogenic of 255 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Brain dopamine-serotonin vesicular transport disease
- Inborn genetic diseases
- Abnormal brain morphology
- Abnormal dense granules
- Abnormal dense granule content
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.51
- gnomAD pLI
- 0.08
- gnomAD missense Z
- 1.25
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- aminergic neurotransmitter loading into synaptic vesicle
- chemical synaptic transmission
- dopamine transport
- histamine secretion by mast cell
- histamine uptake
- locomotory behavior
- monoamine transport
- negative regulation of reactive oxygen species biosynthetic process
- neurotransmitter loading into synaptic vesicle
- neurotransmitter transport
- post-embryonic development
- response to amphetamine
- response to toxic substance
- serotonin uptake
- serotonin secretion by mast cell
- somato-dendritic dopamine secretion
Molecular functions
- monoamine transmembrane transporter activity
- monoamine:proton antiporter activity
- serotonin:sodium:chloride symporter activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SLC18A2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC18A2 as an antibody target. Whether an autoantibody or antibody against SLC18A2 could matter depends on whether native SLC18A2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC18A2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SLC18A2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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