Gene Report

Basic Info
Approved Symbol SLC18A1
Previous Symbol VMAT1, VAT1
Symbol Alias CGAT
Approved Name solute carrier family 18 (vesicular monoamine transporter), member 1
Location 8p21.3
Position chr8:20144855-20183206, -1
External Links HGNC: 10934
Entrez Gene: 6570
Ensembl: ENSG00000036565
UCSC: uc003wzm.3
No. of Studies 3 (Positive: 2; Negative: 1; trend: 0)
Overlap with SZ? YES
Overlap with MDD? NO
Gene related studies (count: 3)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Lohoff, F. W., 2006 SNP: rs1390938, rs1497020, rs2270637, rs2270641, rs2279709, rs3735835, rs988713
Haplotype: rs988713 - rs2270641 - rs2270637 - rs1390938 - rs2279709 - rs3735835 - rs1497020(A-Thr-Thr-Thr-A-G), rs988713 - rs2270641 - rs2270637 - rs1390938 - rs2279709 - rs3735835 - rs1497020(A-Thr-Thr-Thr-A-C), rs988713 - rs2270641 - rs2270637 - rs1390938 - rs2279709 - rs3735835 - rs1497020(A-Thr-Ser-Thr-C-G), rs988713 - rs2270641 - rs2270637 - rs1390938 - rs2279709 - rs3735835 - rs1497020(A-Pro-Thr-Thr-C-C), rs988713 - rs2270641 - rs2270637 - rs1390938 - rs2279709 - rs3735835 - rs1497020(G-Thr-Thr-Ile-A-G)
Results suggest that variations in the VMAT1 gene may confer susceptibility to BPD in patients of European descent. Additional studies are necessary to confirm this effect and to elucidate the role of VMAT1 in central nervous system physiology. Expression analysis confirmed that VMAT1 is expressed in human brain at the mRNA and protein level. Positive Comment on Study
Lohoff, F. W., 2013 SNP: rs150204882, rs17215801, rs17222218, rs148468662, rs17222183 Deep sequencing of bipolar disorder (BPD) patients and controls identified several rare novel VMAT1 variants. The variant Phe84Ser was only present in individuals with BPD and leads to marked increase monoamine transport in vitro. Taken together, our data show that VMAT1 polymorphisms influence monoamine signaling, the functional response of emotional brain circuits and risk for psychopathology Positive Comment on Study
Yosifova, A.,2009 SNP: rs1390938, rs2279709, rs988713 No SNP of this gene had significant association with BD in our population. Negative Comment on Study
Gene functional annotation
Gene related GO terms (count: 9)

GO terms by PBA (count: 1)

GO terms by database search (count: 8)

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors
Gene related SNPs (count: 40)

Literature-origin SNPs (count: 12)

LD-proxies (count: 28)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)
Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 6)

Gene relationship with MDD

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Region: chr8:20144855..20183206 View in gBrowse
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