Human Gene SLC18A2 (ENST00000644641.2)
  Description: Homo sapiens solute carrier family 18 member A2 (SLC18A2), mRNA. (from RefSeq NM_003054)
RefSeq Summary (NM_003054): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Gencode Transcript: ENST00000644641.2
Gencode Gene: ENSG00000165646.14
Transcript (Including UTRs)
   Position: hg38 chr10:117,241,114-117,279,430 Size: 38,317 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg38 chr10:117,241,694-117,277,266 Size: 35,573 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:117,241,114-117,279,430)mRNA (may differ from genome)Protein (514 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: VMAT2_HUMAN
DESCRIPTION: RecName: Full=Synaptic vesicular amine transporter; AltName: Full=Monoamine transporter; AltName: Full=Solute carrier family 18 member 2; AltName: Full=Vesicular amine transporter 2; Short=VAT2;
FUNCTION: Involved in the ATP-dependent vesicular transport of biogenic amine neurotransmitters. Pumps cytosolic monoamines including dopamine, norepinephrine, serotonin, and histamine into synaptic vesicles. Requisite for vesicular amine storage prior to secretion via exocytosis.
SUBUNIT: Interacts with SLC6A3 (By similarity).
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane; Multi-pass membrane protein.
SIMILARITY: Belongs to the major facilitator superfamily. Vesicular transporter family.
SEQUENCE CAUTION: Sequence=BAB19009.1; Type=Erroneous gene model prediction;
WEB RESOURCE: Name=Wikipedia; Note=Vesicular monoamine transporter entry; URL="http://en.wikipedia.org/wiki/Vesicular_monoamine_transporter";

-  MalaCards Disease Associations
  MalaCards Gene Search: SLC18A2
Diseases sorted by gene-association score: brain dopamine-serotonin vesicular transport disease* (369), parkinson disease 1 (12), cocaine abuse (9), duodenal gastrinoma (7), dementia, lewy body (6), mood disorder (6), perry syndrome (5), psychotic disorder (5), tic disorder (5), parkinson disease, late-onset (5), tetanus neonatorum (5), choreatic disease (5), attention deficit-hyperactivity disorder (3), movement disease (2), central nervous system disease (2), alcohol dependence (2), narcolepsy (2), synucleinopathy (1), toxic encephalopathy (1), schizophrenia (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 21.92 RPKM in Brain - Substantia nigra
Total median expression: 193.11 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -54.40122-0.446 Picture PostScript Text
3' UTR -503.502164-0.233 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011701 - MFS
IPR020846 - MFS_dom
IPR016196 - MFS_dom_general_subst_transpt

Pfam Domains:
PF07690 - Major Facilitator Superfamily

ModBase Predicted Comparative 3D Structure on Q05940
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsemblWormBase 
Protein SequenceProtein Sequence Protein SequenceProtein Sequence 
AlignmentAlignment AlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008504 monoamine transmembrane transporter activity
GO:0015222 serotonin transmembrane transporter activity

Biological Process:
GO:0001975 response to amphetamine
GO:0006836 neurotransmitter transport
GO:0006837 serotonin transport
GO:0007268 chemical synaptic transmission
GO:0007269 neurotransmitter secretion
GO:0007626 locomotory behavior
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:0042137 sequestering of neurotransmitter
GO:0055085 transmembrane transport
GO:0098700 neurotransmitter loading into synaptic vesicle
GO:1903427 negative regulation of reactive oxygen species biosynthetic process

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0008021 synaptic vesicle
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030659 cytoplasmic vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0070083 clathrin-sculpted monoamine transport vesicle membrane


-  Descriptions from all associated GenBank mRNAs
  BC030593 - Homo sapiens solute carrier family 18 (vesicular monoamine), member 2, mRNA (cDNA clone IMAGE:4828946), complete cds.
AK314997 - Homo sapiens cDNA, FLJ95924, highly similar to Homo sapiens solute carrier family 18 (vesicular monoamine), member2 (SLC18A2), mRNA.
L23205 - Human vesicle monoamine transporter (VMAT2) mRNA, complete cds.
L09118 - Human synaptic vesicle monoamine transporter (SVMT) mRNA, complete cds.
X71354 - H.sapiens mRNA for vesicular monoamine transporter.
L14269 - Homo sapiens synaptic vesicle amine transporter (SVAT) mRNA, complete cds.
BC108927 - Homo sapiens solute carrier family 18 (vesicular monoamine), member 2, mRNA (cDNA clone MGC:120477 IMAGE:40025174), complete cds.
BC108928 - Homo sapiens solute carrier family 18 (vesicular monoamine), member 2, mRNA (cDNA clone MGC:120478 IMAGE:40025175), complete cds.
KJ892156 - Synthetic construct Homo sapiens clone ccsbBroadEn_01550 SLC18A2 gene, encodes complete protein.
JD429598 - Sequence 410622 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa05012 - Parkinson's disease

Reactome (by CSHL, EBI, and GO)

Protein Q05940 (Reactome details) participates in the following event(s):

R-HSA-374899 Release of noradrenaline at the synapse
R-HSA-380869 Release of docked dopamine loaded synaptic vesicle
R-HSA-380901 Release of docked serotonin loaded synaptic vesicle
R-HSA-374922 Noradrenalin synaptic vesicle docking and priming
R-HSA-380574 Dopamine synaptic vesicle docking and priming
R-HSA-380905 Serotonin loaded synaptic vesicle docking and priming
R-HSA-372542 Loading of dopamine into synaptic veiscles
R-HSA-380586 loading of Serotonin in synaptic vesicles
R-HSA-444160 VMAT1/2 can mediate the transport of biogenic amines
R-HSA-181430 Norepinephrine Neurotransmitter Release Cycle
R-HSA-212676 Dopamine Neurotransmitter Release Cycle
R-HSA-181429 Serotonin Neurotransmitter Release Cycle
R-HSA-112310 Neurotransmitter release cycle
R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds
R-HSA-425428 Amine compound SLC transporters
R-HSA-112316 Neuronal System
R-HSA-425407 SLC-mediated transmembrane transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: B2RC96, D3DRC4, ENST00000644641.1, NM_003054, Q05940, Q15876, Q5VW49, Q9H3P6, SVMT, uc285iju.1, VMAT2, VMAT2_HUMAN
UCSC ID: ENST00000644641.2
RefSeq Accession: NM_003054
Protein: Q05940 (aka VMAT2_HUMAN)
CCDS: CCDS7599.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.