1. Gene
  2. SLC6A18 - solute carrier family 6 member 18 Gene

SLC6A18 - solute carrier family 6 member 18 Gene

Homo sapiens

Also known as Xtrp2

Gene ID: 348932 | Gene type: protein coding

About SLC6A18

Cytogenetic location: 5p15.33 Genomic coordinates (GRCh38): 5:1,225,381-1,246,189 (from NCBI)

This gene has 2 transcripts (splice variants), 232 orthologues, 19 paralogues and is associated with 1 phenotype. Restricted expression toward kidney (RPKM 7.1).

Summary

The SLC6 family of proteins, which includes SLC6A18, act 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 (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Apr 2010]

SLC6A18 Products(1)

mRNA Protein Name
NM_182632.3 NP_872438.2 inactive sodium-dependent neutral amino acid transporter B(0)AT3

SLC6A18 Protein Structure

SNF

SNF: Sodium:neurotransmitter symporter family (18 - 591)

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  • 628 a.a.
Protein Preferred Names Protein Names

inactive sodium-dependent neutral amino acid transporter B(0)AT3

sodium channel-like protein

Related Diseases

Diseases Alias
Iminoglycinuria

Iminoglycinuria, Digenic

IG

Hyperglycinuria

Glycinuria With Or Without Oxalate Urolithiasis

Glycinuria With Or Without Oxalate Nephrolithiasis

Iminoglycinuria Type Ii

HG

Fanconi-Like Syndrome

Fanconi Like Syndrome

Hartnup Disorder

Hartnup Disease

HND

Neutral 1 Amino Acid Transport Defect

Neutral Amino Acid Transport Defect

Deficiency Of Tryptophan Oxygenase

Hartnup'S Disease

Aminoaciduria, Hartnup Type

Disorder Of Neutral Amino Acid Transport

Developmental And Epileptic Encephalopathy 3

Epileptic Encephalopathy, Early Infantile, 3

DEE3

Eiee3

Early Myoclonic Encephalopathy

Developmental And Epileptic Encephalopathy, 3

Early Infantile Epileptic Encephalopathy 3

Eme

Neonatal Epilepsy With Suppression-Burst Pattern

Encephalopathy, Epileptic, Early Infantile, Type 3

Retinitis Pigmentosa 68

RP68

Retinitis Pigmentosa, Type 68

Hyperekplexia

Hereditary Hyperekplexia

Kok Disease

Congenital Stiff Man Syndrome

Familial Startle Disease

Sthe

Stiff-Baby Syndrome

Hereditary Hyperexplexia

Startle Disease

Exaggerated Startle Reaction

Hyperexplexia Hereditary

Startle Disease, Familial

Startle Reaction, Exaggerated

Stiff-Man Syndrome, Congenital

Stiff-Person Syndrome, Congenital

Congenital Stiff-Man Syndrome

Congenital Stiff-Person Syndrome

Familial Hyperekplexia

Startle Syndrome

Stiff Baby Syndrome

Hyperekplexia, Hereditary

Stiff-Person Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus SLC6A18 MGD MGI:1336892
Canis familiaris SLC6A18 VGNC VGNC:46460
Macaca mulatta SLC6A18 VGNC VGNC:77779
Rattus norvegicus SLC6A18 RGD RGD:69352
Felis catus SLC6A18 VGNC VGNC:102323