SLC6A18 - solute carrier family 6 member 18 Gene

Also Known as Xtrp2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 348932

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
Molecular Function GO Annotation Evidence Références Source
NOT contributes to amino acid transmembrane transporter activity IDA
IDA: Inferred from direct assay
26240152 GOA
Biological Process GO Annotation Evidence Références Source
NOT involved in amino acid transport IMP
IMP: Inferred from mutant phenotype
26240152 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC6A18 Protein Structure

SNF

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

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 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
Others SLC6A18 NCBI