GENE REFERENCE / HGNC:11049

SLC6A3

solute carrier family 6 member 3

protein-coding gene5p15.33Gene information

What does this gene do?

The SLC6A3 gene provides instructions for making a protein called the dopamine transporter or DAT. This protein is embedded in the membrane of certain nerve cells (neurons) in the brain, where it transports a molecule called dopamine into the cell. Dopamine is a chemical messenger (neurotransmitter) that relays signals from one neuron to another. Dopamine has many important functions, including playing complex roles in thought (cognition), motivation, behavior, and control of movement.

To transmit signals, dopamine is released into the space between neurons (the synaptic cleft), where it attaches (binds) to receptors on the surface of neighboring neurons. The dopamine transporter brings dopamine from the synaptic cleft back into neurons for reuse. The activity of the transporter determines how much dopamine is present in the synaptic cleft and for how long. This activity makes the transporter a major controller of dopamine signaling in the brain.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-05-02. Source review: 2015-10.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
SLC6A3-related dopamine transporter deficiency syndromeMONDO:0700117 · Evaluated 2023-01-09	Autosomal recessive	DefinitiveGeneral Inborn Errors of Metabolism Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 729
Submissions for variants in or overlapping this gene: 974
Submissions explicitly reporting this gene: 814
Alleles reported pathogenic / likely pathogenic: 23
VariationIDs with uncertain significance: 183
VariationIDs with conflicting classifications: 13

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about SLC6A3?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 23 alleles in SLC6A3 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in SLC6A3.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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