SLC7A13 - solute carrier family 7 member 13 Gene

Also Known as AGT1; XAT2; AGT-1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 157724

About SLC7A13

Cytogenetic location: 8q21.3 Genomic coordinates (GRCh38): 8:86,214,063-86,230,381 (from NCBI)

This gene has 3 transcripts (splice variants), 752 orthologues and 12 paralogues. Restricted expression toward kidney (RPKM 11.0).

Summary

Predicted to enable L-amino acid transmembrane transporter activity. Predicted to be involved in L-cystine transport; L-glutamate transmembrane transport; and aspartate transmembrane transport. Predicted to be integral component of membrane. Predicted to be active in apical plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

SLC7A13 Products (1)

mRNA Protein Name
NM_138817.3 NP_620172.2 solute carrier family 7 member 13

SLC7A13 Protein Structure

AA_permease_2

AA_permease_2: Amino acid permease (16 - 415)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 470 a.a.
Protein Preferred Names Protein Names

solute carrier family 7 member 13

  • X-amino acid transporter 2

Related Diseases

Diseases Alias
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

Hypotonia-Cystinuria Syndrome
  • Cystinuria With Mitochondrial Disease

  • 2p21 Microdeletion Syndrome

  • HCS

  • Homozygous 2p16 Deletion Syndrome, Formerly

  • 2p21 Deletion Syndrome

  • Del(2)(P21)

  • Monosomy 2p21

  • Atypical Hypotonia-Cystinuria Syndrome

  • Atypical Hcs

Myasthenic Syndrome, Congenital, 8
  • Congenital Myasthenic Syndrome 8

  • CMS8

  • Myasthenic Syndrome, Congenital, With Pre- And Postsynaptic Defects

  • Cmsppd

  • Myasthenic Syndrome, Congenital, 8, With Pre- And Postsynaptic Defects

  • Congenital Myasthenic Syndrome Due To Agrin Deficiency

  • Myasthenic Syndrome, Congenital, Due To Agrin Deficiency

  • Congenital Myasthenic Syndrome 8 With Pre- And Postsynaptic Defects

  • Myasthenic Syndrome, Congenital, Type 8, With Pre- And Postsynaptic Defects

Cystinuria
  • CSNU

  • Cystinuria Type B

  • Cystinuria Type A

  • Cystinuria, Type I, Formerly

  • Csnu1, Formerly

  • Cystinuria, Type Ii, Formerly

  • Cystinuria, Type Iii, Formerly

  • Csnu3, Formerly

  • Cystinuria, Type Non-I, Formerly

  • Cystinuria-Lysinuria

  • Cystinuria-Lysinuria Syndrome

  • Csnu1

  • Csnu3

  • Cystinuria 1

  • Cystinuria Type A/B

  • Cystinuria Type I

  • Cystinuria Type Ii

  • Cystinuria Type Iii

  • Cystinuria Type Non-I

  • Cystinuria, Type A/B

  • Cystinuria Type 1

  • Cystinuria - Lysinuria

  • Csnu - [Cystinuria]

  • Cystine Disease

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 SLC7A13 MGD MGI:1921337
Macaca mulatta SLC7A13 VGNC VGNC:84117
Rattus norvegicus SLC7A13 RGD RGD:1311633
Others SLC7A13 NCBI