Gene table of SLC6A17 : solute carrier family 6 member 17

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SLC6A17	OMIM link	Number of associated genes	genes
PS249500	MENTAL RETARDATION, AUTOSOMAL RECESSIVE	ClinVar, OMIM, HUMSAVAR	link to OMIM	31	ADAT3, NDST1, GPT2, PIGG, FMN2, TTI2, PGAP1, HNMT, EDC3, NSUN2, KPTN, GRIK2, TAF2, KIAA1033, MED23, PRSS12, FBXO31, LINS1, HERC2, CC2D1A, METTL23, TUSC3, ST3GAL3, TECR, CRADD, MAN1B1, SLC6A17, ANK3, CRBN, TRAPPC9, LMAN2L

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
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
secondary active transmembrane transporter activity	GO:0015291	4.29
sodium ion transmembrane transporter activity	GO:0015081	4.83
organic acid transmembrane transporter activity	GO:0005342	4.97
solute:cation symporter activity	GO:0015294	5.15
transporter activity	GO:0005215	2.57
neurotransmitter transporter activity	GO:0005326	6.52
cation transmembrane transporter activity	GO:0008324	3.32
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
ion transmembrane transporter activity	GO:0015075	3.04
transmembrane transporter activity	GO:0022857	2.82
solute:sodium symporter activity	GO:0015370	5.83
symporter activity	GO:0015293	4.78
active transmembrane transporter activity	GO:0022804	3.85
neurotransmitter:sodium symporter activity	GO:0005328	6.79
metal ion transmembrane transporter activity	GO:0046873	3.71
amino acid transmembrane transporter activity	GO:0015171	5.38
carboxylic acid transmembrane transporter activity	GO:0046943	4.99