SLC18A2 solute carrier family 18 member A2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC18A2provided by HGNC
Official Full Name: solute carrier family 18 member A2provided by HGNC
Primary source: HGNC:HGNC:10935
See related: Ensembl:ENSG00000165646 MIM:193001; AllianceGenome:HGNC:10935
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SVAT; SVMT; VAT2; VMAT2; PKDYS2
Summary: 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]
Expression: Ubiquitous expression in adrenal (RPKM 12.2), ovary (RPKM 7.2) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 10q25.3

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (117241114..117279430)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (118135601..118173927)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (119000625..119038941)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Transport and inhibition mechanisms of human VMAT2.
Title: Transport and inhibition mechanisms of human VMAT2.
Transport and inhibition mechanism for VMAT2-mediated synaptic vesicle loading of monoamines.
Title: Transport and inhibition mechanism for VMAT2-mediated synaptic vesicle loading of monoamines.
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Title: Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Sclerosing Paragangliomas: Correlations of Histological Features with Patients' Genotype and Vesicular Monoamine Transporter Expression.
Title: Sclerosing Paragangliomas: Correlations of Histological Features with Patients' Genotype and Vesicular Monoamine Transporter Expression.
VMAT2 availability in Parkinson's disease with probable REM sleep behaviour disorder.
Title: VMAT2 availability in Parkinson's disease with probable REM sleep behaviour disorder.
Comparisons of vesicular monoamine transporter type 2 signals in Parkinson's disease and parkinsonism secondary to carbon monoxide poisoning.
Title: Comparisons of vesicular monoamine transporter type 2 signals in Parkinson's disease and parkinsonism secondary to carbon monoxide poisoning.
Nominal associations were indicated for 20 variants in six genes including an experiment-wise significant association from the combined effect of three SLC18A2 SNPs (rs363332, rs363334 and rs363338) with heroin dependence (pfinal = 0.047).
Title: VMAT2 gene (SLC18A2) variants associated with a greater risk for developing opioid dependence.
SV2 was highly expressed in neuroblastoma (NB) and can thus be useful marker in NB diagnostics. VMAT1 and VMAT2 were also expressed in NB but similar to syn less reliable as tumor markers.
Title: Synaptic Vesicle Protein 2 and Vesicular Monoamine Transporter 1 and 2 Are Expressed in Neuroblastoma.
Study shows decreased pallidal vesicular monoamine transporter type 2 availability in Parkinson's disease. Findings showed dopamine terminals in the globus pallidus may be differentially vulnerable in different stages of the disease.
Title: Decreased pallidal vesicular monoamine transporter type 2 availability in Parkinson's disease: The contribution of the nigropallidal pathway.
single nucleotide polymorphisms (rs363223, rs363226, rs363251, and rs363341interact with assessed cognitive impairment after severe traumatic brain injury
Title: Genetic Variation in the Vesicular Monoamine Transporter: Preliminary Associations With Cognitive Outcomes After Severe Traumatic Brain Injury.

Submit: New GeneRIF Correction See all GeneRIFs (69)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Parkinsonism-dystonia, infantile, 2 MedGen: C4747991 OMIM: 618049 GeneReviews: Not available	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Replication interactions

Interaction	Pubs
Knockdown of solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

G65624 (e-PCR)
- UniSTS:225560

SHGC-31141 (e-PCR)
- UniSTS:43611

RH92599 (e-PCR)
- UniSTS:86387

U75537 (e-PCR)
- UniSTS:55418

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables monoamine transmembrane transporter activity	TAS Traceable Author Statement more info
enables monoamine:proton antiporter activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serotonin:sodium:chloride symporter activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in aminergic neurotransmitter loading into synaptic vesicle	IBA Inferred from Biological aspect of Ancestor more info
involved_in chemical synaptic transmission	TAS Traceable Author Statement more info	PubMed
involved_in dopamine transport	TAS Traceable Author Statement more info	PubMed
involved_in histamine secretion by mast cell	IEA Inferred from Electronic Annotation more info
involved_in histamine uptake	IDA Inferred from Direct Assay more info	PubMed
involved_in locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in monoamine transport	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of reactive oxygen species biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
involved_in neurotransmitter loading into synaptic vesicle	TAS Traceable Author Statement more info	PubMed
involved_in neurotransmitter transport	TAS Traceable Author Statement more info
involved_in post-embryonic development	IEA Inferred from Electronic Annotation more info
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in response to amphetamine	IEA Inferred from Electronic Annotation more info
involved_in response to toxic substance	IEA Inferred from Electronic Annotation more info
involved_in sequestering of neurotransmitter	NAS Non-traceable Author Statement more info	PubMed
involved_in serotonin secretion by mast cell	IEA Inferred from Electronic Annotation more info
involved_in serotonin uptake	IDA Inferred from Direct Assay more info	PubMed
involved_in somato-dendritic dopamine secretion	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
located_in centrosome	IDA Inferred from Direct Assay more info
located_in clathrin-sculpted monoamine transport vesicle membrane	TAS Traceable Author Statement more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in dopaminergic synapse	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in secretory granule membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in synaptic vesicle	TAS Traceable Author Statement more info	PubMed
is_active_in synaptic vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in terminal bouton	IBA Inferred from Biological aspect of Ancestor more info

General protein information

Go to the top of the page Help

Preferred Names: synaptic vesicular amine transporter

Names: monoamine neurotransmitter transporter; solute carrier family 18 (vesicular monoamine transporter), member 2; synaptic vesicle amine transporter, brain; synaptic vesicle monoamine transporter, brain; vesicle monoamine transporter type 2; vesicle monoamine/H+ antiporter; vesicular amine transporter 2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.