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Aliases for SLC18A2 Gene

Aliases for SLC18A2 Gene

  • Solute Carrier Family 18 Member A2 2 3 5
  • Solute Carrier Family 18 (Vesicular Monoamine Transporter), Member 2 2 3
  • Solute Carrier Family 18 Member 2 3 4
  • Vesicular Amine Transporter 2 3 4
  • Monoamine Transporter 3 4
  • VMAT2 3 4
  • SVMT 3 4
  • VAT2 3 4
  • Solute Carrier Family 18 (Vesicular Monoamine), Member 2 3
  • Monoamine Neurotransmitter Transporter 3
  • Synaptic Vesicular Amine Transporter 3
  • Vesicle Monoamine Transporter Type 2 3
  • Vesicle Monoamine/H+ Antiporter 3
  • SVAT 3

External Ids for SLC18A2 Gene

Previous HGNC Symbols for SLC18A2 Gene

  • VMAT2

Previous GeneCards Identifiers for SLC18A2 Gene

  • GC10P117919
  • GC10P118244
  • GC10P119131
  • GC10P118665
  • GC10P118990
  • GC10P112628
  • GC10P119000

Summaries for SLC18A2 Gene

Entrez Gene Summary for SLC18A2 Gene

  • The vesicular monoamine transporter acts to accumulate cytosolic monoamines into synaptic vesicles, using the proton gradient maintained across the synaptic vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (summary by Peter et al., 1993 [PubMed 7905859]). See also SLC18A1 (MIM 193002).[supplied by OMIM, Jan 2011]

GeneCards Summary for SLC18A2 Gene

SLC18A2 (Solute Carrier Family 18 Member A2) is a Protein Coding gene. Diseases associated with SLC18A2 include Brain Dopamine-Serotonin Vesicular Transport Disease and Cocaine Abuse. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include enzyme binding and transmembrane transporter activity. An important paralog of this gene is SLC18A1.

UniProtKB/Swiss-Prot for SLC18A2 Gene

  • 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.

Gene Wiki entry for SLC18A2 Gene

Additional gene information for SLC18A2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC18A2 Gene

Genomics for SLC18A2 Gene

GeneHancer (GH) Regulatory Elements for SLC18A2 Gene

Promoters and enhancers for SLC18A2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I117244 Promoter 0.7 EPDnew 550.8 +0.0 27 0.1 POLR2A CREB1 EZH2 LOC105378500 SLC18A2
GH10I117240 Enhancer 0.5 ENCODE 550.8 -0.3 -288 0.2 USF1 CTBP2 USF2 EZH2 LOC105378500 SLC18A2 GC10P117233
GH10I117241 Enhancer 0.5 ENCODE 550.8 -0.5 -468 0.2 USF1 POLR2A CTBP2 USF2 EZH2 SLC18A2 LOC105378500 GC10P117233
GH10I117243 Enhancer 0.4 ENCODE 550.8 -0.7 -748 0.2 POLR2A CTBP2 EZH2 SLC18A2 LOC105378500 GC10P117233
GH10I117242 Enhancer 0.3 FANTOM5 573.4 +1.5 1523 0.1 EZH2 SLC18A2 LOC105378500
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC18A2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC18A2 gene promoter:

Genomic Locations for SLC18A2 Gene

Genomic Locations for SLC18A2 Gene
chr10:117,241,073-117,279,430
(GRCh38/hg38)
Size:
38,358 bases
Orientation:
Plus strand
chr10:119,000,584-119,038,941
(GRCh37/hg19)

Genomic View for SLC18A2 Gene

Genes around SLC18A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC18A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC18A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC18A2 Gene

Proteins for SLC18A2 Gene

  • Protein details for SLC18A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q05940-VMAT2_HUMAN
    Recommended name:
    Synaptic vesicular amine transporter
    Protein Accession:
    Q05940
    Secondary Accessions:
    • B2RC96
    • D3DRC4
    • Q15876
    • Q4G147
    • Q5VW49
    • Q9H3P6

    Protein attributes for SLC18A2 Gene

    Size:
    514 amino acids
    Molecular mass:
    55713 Da
    Quaternary structure:
    • Interacts with SLC6A3.
    SequenceCaution:
    • Sequence=BAB19009.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC18A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC18A2 Gene

Post-translational modifications for SLC18A2 Gene

  • Glycosylation at posLast=5656, posLast=8484, and posLast=9191

Other Protein References for SLC18A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC18A2 Gene

Domains & Families for SLC18A2 Gene

Gene Families for SLC18A2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC18A2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC18A2 Gene

Graphical View of Domain Structure for InterPro Entry

Q05940

UniProtKB/Swiss-Prot:

VMAT2_HUMAN :
  • Belongs to the major facilitator superfamily. Vesicular transporter family.
Family:
  • Belongs to the major facilitator superfamily. Vesicular transporter family.
genes like me logo Genes that share domains with SLC18A2: view

Function for SLC18A2 Gene

Molecular function for SLC18A2 Gene

GENATLAS Biochemistry:
solute carrier family 18,member A2,vesicular monoamine transporter,expressed in brain
UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for SLC18A2 Gene

Gene Ontology (GO) - Molecular Function for SLC18A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008504 monoamine transmembrane transporter activity TAS --
GO:0015222 serotonin transmembrane transporter activity IBA --
genes like me logo Genes that share ontologies with SLC18A2: view
genes like me logo Genes that share phenotypes with SLC18A2: view

Human Phenotype Ontology for SLC18A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC18A2 Gene

MGI Knock Outs for SLC18A2:

Animal Model Products

CRISPR Products

miRNA for SLC18A2 Gene

miRTarBase miRNAs that target SLC18A2

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC18A2 Gene

Localization for SLC18A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC18A2 Gene

Cytoplasmic vesicle membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC18A2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 2
cytosol 2
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SLC18A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8095030
GO:0008021 synaptic vesicle TAS 21563316
GO:0016020 membrane TAS 8095030
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC18A2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC18A2 Gene

Pathways & Interactions for SLC18A2 Gene

genes like me logo Genes that share pathways with SLC18A2: view

Gene Ontology (GO) - Biological Process for SLC18A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001975 response to amphetamine IEA --
GO:0006810 transport IEA --
GO:0006836 neurotransmitter transport IEA --
GO:0006837 serotonin transport IEA --
GO:0007268 chemical synaptic transmission TAS 15217342
genes like me logo Genes that share ontologies with SLC18A2: view

No data available for SIGNOR curated interactions for SLC18A2 Gene

Drugs & Compounds for SLC18A2 Gene

(75) Drugs for SLC18A2 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tetrabenazine Approved, Investigational Pharma Inhibition, Inhibitor, Target, inhibitor, blocker Potent inhibitor of vesicular monoamine transport 28
Reserpine Approved, Investigational Pharma Inhibition, Inhibitor, Target, inhibitor, blocker 8
Amphetamine Approved, Illicit, Investigational Pharma Target, inhibitor, antagonist 131
Methamphetamine Approved, Illicit Pharma Target, inhibitor, antagonist 267
Dextroamphetamine Approved, Illicit Pharma Full agonist, Agonist, Target, inducer, antagonist 76

(28) Additional Compounds for SLC18A2 Gene - From: Novoseek and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>125</sup>I]8-azido-3-iodoketanserine

(3) Tocris Compounds for SLC18A2 Gene

Compound Action Cas Number
Reserpine Inhibitor of vesicular monoamine transport 50-55-5
Rose Bengal Potent VGlut and VMAT inhibitor; cell permeable 632-69-9
Tetrabenazine Potent inhibitor of vesicular monoamine transport 58-46-8

(7) ApexBio Compounds for SLC18A2 Gene

Compound Action Cas Number
CHC 28166-41-8
Indatraline hydrochloride 96850-13-4
Mofegiline hydrochloride 120635-25-8
NBI-98782 85081-18-1
NBI-98854 171598-74-6
Reserpine hydrochloride 16994-56-2
Rose Bengal VGlut and vesicular monoamine transporter (VMAT) inhibitor 632-69-9
genes like me logo Genes that share compounds with SLC18A2: view

Drug Products

Transcripts for SLC18A2 Gene

mRNA/cDNA for SLC18A2 Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(55) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC18A2 Gene

Solute carrier family 18 (vesicular monoamine), member 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC18A2 Gene

No ASD Table

Relevant External Links for SLC18A2 Gene

GeneLoc Exon Structure for
SLC18A2
ECgene alternative splicing isoforms for
SLC18A2

Expression for SLC18A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC18A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC18A2 Gene

This gene is overexpressed in Brain - Substantia nigra (x7.0) and Brain - Hypothalamus (x4.1).

Protein differential expression in normal tissues from HIPED for SLC18A2 Gene

This gene is overexpressed in Adrenal (46.4), Platelet (10.7), and Prostate (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC18A2 Gene



NURSA nuclear receptor signaling pathways regulating expression of SLC18A2 Gene:

SLC18A2

SOURCE GeneReport for Unigene cluster for SLC18A2 Gene:

Hs.596992

Evidence on tissue expression from TISSUES for SLC18A2 Gene

  • Nervous system(4.6)
  • Blood(4.4)
  • Adrenal gland(2.6)
  • Stomach(2.2)
genes like me logo Genes that share expression patterns with SLC18A2: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC18A2 Gene

Orthologs for SLC18A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC18A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC18A2 33 34
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia SLC18A2 33 34
  • 90.14 (n)
cow
(Bos Taurus)
Mammalia SLC18A2 33 34
  • 89.3 (n)
mouse
(Mus musculus)
Mammalia Slc18a2 33 16 34
  • 88.89 (n)
rat
(Rattus norvegicus)
Mammalia Slc18a2 33
  • 88.17 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC18A2 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC18A2 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC18A2 33 34
  • 79.86 (n)
lizard
(Anolis carolinensis)
Reptilia SLC18A2 34
  • 81 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii slc18a2 33 34
  • 70.36 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6119 35
  • 64 (a)
Vmat 34 33
  • 58 (n)
OneToMany
CG10251 35
  • 34 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004476 33
  • 59.79 (n)
worm
(Caenorhabditis elegans)
Secernentea cat-1 35 33 34
  • 55.44 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToMany
Species where no ortholog for SLC18A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SLC18A2 Gene

ENSEMBL:
Gene Tree for SLC18A2 (if available)
TreeFam:
Gene Tree for SLC18A2 (if available)

Paralogs for SLC18A2 Gene

Paralogs for SLC18A2 Gene

(3) SIMAP similar genes for SLC18A2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SLC18A2: view

Variants for SLC18A2 Gene

Sequence variations from dbSNP and Humsavar for SLC18A2 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs762879329 likely-pathogenic, Abnormality of brain morphology 117,255,281(+) CCCCCCC/CCCCCC/CCCCCCCC coding_sequence_variant, frameshift
rs751549114 likely-benign, not specified 117,266,980(+) G/A/C intron_variant
rs1000043662 -- 117,263,980(+) T/C intron_variant
rs1000062291 -- 117,249,125(+) G/A intron_variant
rs1000118236 -- 117,254,999(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SLC18A2 Gene

Variant ID Type Subtype PubMed ID
nsv832002 CNV gain+loss 17160897
nsv7564 CNV insertion 18451855
nsv1148753 CNV deletion 26484159
nsv1121715 CNV deletion 24896259
esv3624674 CNV gain 21293372
esv3577760 CNV gain 25503493

Variation tolerance for SLC18A2 Gene

Residual Variation Intolerance Score: 19% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.14; 23.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC18A2 Gene

Human Gene Mutation Database (HGMD)
SLC18A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC18A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC18A2 Gene

Disorders for SLC18A2 Gene

MalaCards: The human disease database

(18) MalaCards diseases for SLC18A2 Gene - From: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
brain dopamine-serotonin vesicular transport disease
cocaine abuse
  • cocaine-related disorders
duodenal gastrinoma
  • duodenal g-cell gastrin producing tumor
dementia, lewy body
  • dlb
mood disorder
  • episodic mood disorder
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC18A2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SLC18A2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC18A2 Gene

Publications for SLC18A2 Gene

  1. Variation in the genes encoding vesicular monoamine transporter 2 and beta-1 adrenergic receptor and antidepressant treatment outcome. (PMID: 18797399) Crowley JJ … Berrettini WH (Psychiatric genetics 2008) 3 22 44 58
  2. Vesicular monoamine transporter 2: role as a novel target for drug development. (PMID: 17233532) Zheng G … Crooks PA (The AAPS journal 2006) 3 22 25 58
  3. Association of DNA polymorphisms in the synaptic vesicular amine transporter gene (SLC18A2) with alcohol and nicotine dependence. (PMID: 15988470) Schwab SG … Wildenauer DB (Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2005) 3 22 44 58
  4. Lack of association between polymorphic microsatellites of the VMAT2 gene and Parkinson's disease in Japan. (PMID: 15850588) Kariya S … Ueno S (Journal of the neurological sciences 2005) 3 22 44 58
  5. Identification of human vesicle monoamine transporter (VMAT2) lumenal cysteines that form an intramolecular disulfide bond. (PMID: 12009896) Thiriot DS … Ruoho AE (Biochemistry 2002) 3 4 22 58

Products for SLC18A2 Gene

Sources for SLC18A2 Gene

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