SLC18A2 Chromosome 10
Solute carrier family 18 member A2
Upload your DNA to see your personal genotypes for variants in SLC18A2.
What This Gene Does
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]
Gene Info
Gene Group
Solute carrier family 18
Locus Type
gene with protein product
Location
10q25.3
Ensembl
ENSG00000165646
Associated Conditions (5)
Brain dopamine-serotonin vesicular transport disease
Inborn genetic diseases
Abnormal brain morphology
Abnormal dense granules
Abnormal dense granule content
Key Variants
RS767337086
Conflicting classifications of pathogenicity
Brain dopamine-serotonin vesicular transport disease, Brain dopamine-serotonin vesicular transport disease
Health Risk
RS1293033867
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1392638187
Likely pathogenic
Brain dopamine-serotonin vesicular transport disease, Brain dopamine-serotonin vesicular transport disease
Health Risk
RS762879329
Likely pathogenic
Abnormal brain morphology, Abnormal brain morphology
Health Risk
RS1265323526
Pathogenic
Brain dopamine-serotonin vesicular transport disease, Brain dopamine-serotonin vesicular transport disease
Health Risk
RS1431337923
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2133726005
Pathogenic
Health Risk
RS2493527151
Pathogenic
Health Risk
RS2493529639
Pathogenic
Brain dopamine-serotonin vesicular transport disease, Brain dopamine-serotonin vesicular transport disease
Health Risk
RS2493539512
Pathogenic
Health Risk
RS1589981178
Pathogenic/Likely pathogenic
Abnormal dense granules, Abnormal dense granule content, Brain dopamine-serotonin vesicular transport disease
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS767337086 | Health Risk | Conflicting classifications of pathogenicity | Brain dopamine-serotonin vesicular transport disease, Brain dopamine-serotonin vesicular transport disease |
| RS1293033867 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1392638187 | Health Risk | Likely pathogenic | Brain dopamine-serotonin vesicular transport disease, Brain dopamine-serotonin vesicular transport disease |
| RS762879329 | Health Risk | Likely pathogenic | Abnormal brain morphology, Abnormal brain morphology |
| RS1265323526 | Health Risk | Pathogenic | Brain dopamine-serotonin vesicular transport disease, Brain dopamine-serotonin vesicular transport disease |
| RS1431337923 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2133726005 | Health Risk | Pathogenic | — |
| RS2493527151 | Health Risk | Pathogenic | — |
| RS2493529639 | Health Risk | Pathogenic | Brain dopamine-serotonin vesicular transport disease, Brain dopamine-serotonin vesicular transport disease |
| RS2493539512 | Health Risk | Pathogenic | — |
| RS1589981178 | Health Risk | Pathogenic/Likely pathogenic | Abnormal dense granules, Abnormal dense granule content, Brain dopamine-serotonin vesicular transport disease |