SLCtables

SLC6A18

Protein name: N/D Aliases: B0AT3, XT2 Substrates: neutral amino acids Transport type: N/D Tissue and cellular expression: kidney (proximal tubule) Subcellular expression: N/D Disease: hyperglycinuria?, hypertension? Locus: 5p15.33 Sequence ID: NP_872438.2, NM_182632.2 Gene ID: 348932 Splice variants: N/D

S6A18_HUMAN (UniProt)

Gene names: SLC6A18, XTRP2
Protein names and data: S6A18_HUMAN, Full=Sodium-dependent neutral amino acid transporter B(0)AT3, Full=Sodium- and chloride-dependent transporter XTRP2;Full=Solute carrier family 6 member 18;Full=System B(0) neutral amino acid transporter AT3; Length: 628 a.a., Mass: 70897 Da,
fasta formatted sequence
Function: Functions as a sodium and chloride-dependent neutral amino acid transporter (By similarity)
Disease: (OMIM: 610300) Note=Genetic variations in SLC6A18 might contribute to the disease phentotype in some individuals with iminoglycinuria or hyperglycinuria, that carry variants in SLC36A2, SLC6A19 or SLC6A20
Cellular location: Membrane; Multi-pass membrane protein (Probable)
Tissue specificity: Abundantly expressed in kidney, but not in intestine

Database cross-references

UniProt: Q96N87
NextBio: 99455
OMIM: 610300
Ensembl: ENST00000324642
GeneCard: GC05P001225
TCDB: 2.A.22.6.4
PharmGenUCSF: SLC6A18
Guide to Pharmacology: SLC6A18 (941)
Neutral amino acid transporter subfamily (941)
HGNC: HGNC:26441

Genetic variants

Genetic variation in SLC6A18 is not a significant predictor for elevated systolic or diastolic blood pressure and is not associated with hypertension in the Japanese population. See also Ensembl:ENST00000324642

4 - 4 A -> D (in dbSNP:rs34469326). VAR_057210 34469326
12 - 12 C -> S (in dbSNP:rs7728667). VAR_027975 7728667
32 - 32 T -> I (in dbSNP:rs7705355). VAR_027976 7705355
79 - 79 G -> S. VAR_064796
478 - 478 P -> L (in dbSNP:rs4073918). VAR_027977 4073918
496 - 496 G -> R. VAR_064797