Gene table of SLC6A5 : solute carrier family 6 member 5

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SLC6A5	OMIM link	Number of associated genes	genes
614618	HYPEREKPLEXIA 3	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	SLC6A5

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Annotation of the gene SLC6A5

Associated genes in ENSEMBL

ENSG00000165970

Associated proteins - SwissProt Accession ID

Q9Y345

Associated PDB IDs

Cytogenetic Band

11p15.1

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Na+/Cl- dependent neurotransmitter transporters	R-HSA-442660	8.73
SLC-mediated transmembrane transport	R-HSA-425407	4.95
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds	R-HSA-425366	6.34
Transmembrane transport of small molecules	R-HSA-382551	3.79

Associated GO terms for Molecular function

GO term	GO ID	GO IC
neurotransmitter:sodium symporter activity	GO:0005328	6.79
organic acid:sodium symporter activity	GO:0005343	6.48
neurotransmitter transporter activity	GO:0005326	6.52
binding	GO:0005488	0.18
organic acid transmembrane transporter activity	GO:0005342	4.97
glycine transmembrane transporter activity	GO:0015187	7.66
cation:amino acid symporter activity	GO:0005416	6.97
sodium ion transmembrane transporter activity	GO:0015081	4.83
transmembrane transporter activity	GO:0022857	2.82
ion binding	GO:0043167	1.36
neutral L-amino acid secondary active transmembrane transporter activity	GO:0005294	8.35
solute:sodium symporter activity	GO:0015370	5.83
glycine:sodium symporter activity	GO:0015375	8.64
metal ion transmembrane transporter activity	GO:0046873	3.71
metal ion binding	GO:0046872	1.41
active transmembrane transporter activity	GO:0022804	3.85
solute:cation symporter activity	GO:0015294	5.15
secondary active transmembrane transporter activity	GO:0015291	4.29
symporter activity	GO:0015293	4.78
cation binding	GO:0043169	1.4
transporter activity	GO:0005215	2.57
cation transmembrane transporter activity	GO:0008324	3.32
carboxylic acid transmembrane transporter activity	GO:0046943	4.99
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
substrate-specific transporter activity	GO:0022892	2.72
sodium:amino acid symporter activity	GO:0005283	7.25
ion transmembrane transporter activity	GO:0015075	3.04
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
L-amino acid transmembrane transporter activity	GO:0015179	6.0
neutral amino acid transmembrane transporter activity	GO:0015175	6.24
amino acid transmembrane transporter activity	GO:0015171	5.38