Gene table of SLC6A19 : solute carrier family 6 member 19

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SLC6A19	OMIM link	Number of associated genes	genes
234500	HARTNUP DISORDER	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	SLC6A19
138500	HYPERGLYCINURIA	ClinVar, OMIM	link to OMIM	3	SLC36A2, SLC6A19, SLC6A20
242600	IMINOGLYCINURIA	OMIM	link to OMIM	3	SLC36A2, SLC6A19, SLC6A20

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

KEGG pathway	KEGG ID	KEGG IC
Mineral absorption	hsa04978	7.09
Protein digestion and absorption	hsa04974	6.2

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Transmembrane transport of small molecules	R-HSA-382551	3.79
Na+/Cl- dependent neurotransmitter transporters	R-HSA-442660	8.73
Transport of inorganic cations/anions and amino acids/oligopeptides	R-HSA-425393	6.41
Amino acid transport across the plasma membrane	R-HSA-352230	8.03
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

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
neutral amino acid transmembrane transporter activity	GO:0015175	6.24
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