ADHDgene Database

Gene Report

Basic Info

Approved Symbol	SLC5A7
Symbol Alias	hCHT, CHT1, CHT
Approved Name	solute carrier family 5 (choline transporter), member 7
Location	2q12
Position	chr2:108602979-108630450, +
External Links	HGNC: 14025 Entrez Gene: 60482 Ensembl: ENSG00000115665 UCSC: uc002tdv.2
No. of Studies	1 (significant: 1; non-significant: 0; trend: 0)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
English BA, 2009	Omnibus tests:for Combined subtype, P-value=0.008, R² =0.048, OR=2.25 under an additive model; P-value=0.008, R² =0.069, OR=2.68, P-value=0.086 under a dominant model. All of the haplotype tests for either the ADHD diagnosis or the Inattentive subtype were non-significant. In contrast, the omnibus tests yielded a significant association with the Combined subtype under an additive model and a trend towards an association under a dominant model with the haplotype comprising both Ile89Val and 3' SNP minor alleles showing the strongest associations.	Significant

Gene related SNPs (count: 6)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs333229	Chr2:108631384(Fwd)	downstream_gene_variant	1(1/0/0)
rs1013940	Chr2:108608648(Fwd)	5_prime_UTR_variant; missense_variant	1(1/0/0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 12)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005307	choline:sodium symporter activity	Molecular Function	IMP[12237312]	1
GO:0055085	transmembrane transport	Biological Process		82
GO:0033265	choline binding	Molecular Function		2
GO:0043025	neuronal cell body	Cellular Component		51
GO:0016021	integral to membrane	Cellular Component	IDA[11027560]	845
GO:0015220	choline transmembrane transporter activity	Molecular Function	IMP[11068039]	2
GO:0008292	acetylcholine biosynthetic process	Biological Process	IMP[11068039]	1
GO:0007274	neuromuscular synaptic transmission	Biological Process		5
GO:0007271	synaptic transmission, cholinergic	Biological Process		8
GO:0007269	neurotransmitter secretion	Biological Process		18
GO:0007268	synaptic transmission	Biological Process		96
GO:0005886	plasma membrane	Cellular Component	IDA[12237312]	772

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with SLC5A7 (count: 6)

Gene Symbol	Pathway Count	Pathway List
SLC18A2	5	transmembrane transport; neuronal cell body; neurotransmitter secretion; synaptic transmission; plasma membrane;
SLC1A3	5	transmembrane transport; neuronal cell body; integral to membrane; synaptic transmission; plasma membrane;
SLC6A1	5	transmembrane transport; integral to membrane; neurotransmitter secretion; synaptic transmission; plasma membrane;
SLC6A3	5	transmembrane transport; neuronal cell body; integral to membrane; synaptic transmission; plasma membrane;
CHRNA3	5	neuronal cell body; integral to membrane; synaptic transmission, cholinergic; synaptic transmission; plasma membrane;
CHRNA4	5	neuronal cell body; integral to membrane; synaptic transmission, cholinergic; synaptic transmission; plasma membrane;

Genes shared at least 2 KEGG pathways with SLC5A7 (count: 0)

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Region: chr2:108602979..108630450 View in gBrowse