SLC18A3 (solute carrier family 18 member A3)

2014-11-01  

Identity

HGNC
LOCATION
10q11.23
LOCUSID
ALIAS
CMS21,VACHT

Other Information

Locus ID:

NCBI: 6572
MIM: 600336
HGNC: 10936
Ensembl: ENSG00000187714

Variants:

dbSNP: 6572
ClinVar: 6572
TCGA: ENSG00000187714
COSMIC: SLC18A3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187714ENST00000374115Q16572

Expression (GTEx)

0
1
2
3
4
5

Pathways

PathwaySourceExternal ID
Cholinergic synapseKEGGhsa04725
Synaptic vesicle cycleKEGGko04721
Synaptic vesicle cycleKEGGhsa04721
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Release CycleREACTOMER-HSA-112310
Acetylcholine Neurotransmitter Release CycleREACTOMER-HSA-264642
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825

References

Pubmed IDYearTitleCitations
192047262009Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.63
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
173737002007Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease.15
219484862012Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.14
232222962013Inhibition of cholinergic signaling causes apoptosis in human bronchioalveolar carcinoma.10
307208842019Cholinergic system changes of falls and freezing of gait in Parkinson's disease.9
127598182003Sequence variation in the CHAT locus shows no association with late-onset Alzheimer's disease.8
127598182003Sequence variation in the CHAT locus shows no association with late-onset Alzheimer's disease.8
208315992010Search for the acetylcholine and vesamicol binding sites in vesicular acetylcholine transporter: the region around the lumenal end of the transport channel.6
211639492011Nuclear choline acetyltransferase activates transcription of a high-affinity choline transporter.6

Citation

Dessen P

SLC18A3 (solute carrier family 18 member A3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73309/slc18a3