SLC6A18

Solute carrier family 6, member 18 also known as SLC6A18 is a protein which in humans is encoded by the SLC6A18 gene.^[5][6]

SLC6A18
Identifiers
Aliases	SLC6A18, Xtrp2, solute carrier family 6 member 18
External IDs	OMIM: 610300; MGI: 1336892; HomoloGene: 40785; GeneCards: SLC6A18; OMA:SLC6A18 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5p15.33 Start 1,225,381 bp[1] End 1,246,189 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13 C1|13 40.13 cM Start 73,809,871 bp[2] End 73,826,142 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in metanephros renal cortex sural nerve intestinal epithelium liver small intestine mucosa of small intestine human kidney hemolymphoid system large intestine Top expressed in right kidney proximal tubule human kidney inner stripe of outer renal medulla proximal straight tubule yolk sac thin ascending limb of loop of Henle proximal convoluted tubule primary visual cortex triceps brachii muscle More reference expression data BioGPS n/a
Gene ontology Molecular function neurotransmitter:sodium symporter activity symporter activity transporter activity amino acid transmembrane transporter activity neutral amino acid transmembrane transporter activity Cellular component integral component of membrane integral component of plasma membrane membrane brush border membrane plasma membrane apical plasma membrane Biological process amino acid transmembrane transport neurotransmitter transport amino acid transport transmembrane transport neutral amino acid transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 348932 22598 Ensembl ENSG00000164363 ENSMUSG00000021612 UniProt Q96N87 O88576 RefSeq (mRNA) NM_182632 NM_001040692 NM_001136087 NM_001168643 NM_001168644 NM_001168645 NM_001168646 NM_011730 RefSeq (protein) NP_872438 NP_001035782 NP_001129559 NP_001162114 NP_001162115 NP_001162116 NP_001162117 Location (UCSC) Chr 5: 1.23 – 1.25 Mb Chr 13: 73.81 – 73.83 Mb PubMed search [3] [4]
Wikidata
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Function

The SLC6 family of proteins, which includes SLC6A18, acts as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions.^[6][7]

Clinical significance

Mutations in the SLC6A18 gene are associated with iminoglycinuria.^[8]