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FLASH GENE
Symbol SLC38A5 contributors: shn/npt - updated : 12-01-2009
HGNC name solute carrier family 38, member 5
HGNC id 18070
Location Xp11.23      Physical location : 48.316.927 - 48.328.644
Synonym name system N transporter 2
Synonym symbol(s) SN2, JM24, pp7194, SNAT5
DNA
TYPE functioning gene
STRUCTURE 11.64 kb     16 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map By genomic sequence analysis the SLC38A5 gene has been mapped to chromosome Xp11.23.
Authors Nakanishi (2001)
regionally located qter - DXS1055 - DXS1003 - SLC38A5 - DXS1208 - DXS1039 - cen
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 2098 46.3 421 primary ganglion cells, Müller cells, liver cells Umapathy (2008)
17 - 2006 52 472 primary ganglion cells, Müller cells, liver cells Umapathy (2008)
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestine   predominantly
 liver   predominantly
 stomach   predominantly
Nervousbrain   predominantly
Respiratorylung   predominantly
cells
SystemCellPubmedSpeciesStageRna symbol
Visualamacrine cell
Visualbipolar cell
Visualcone photoreceptor
Visualganglion cell
Visualhorizontal association cell
VisualMuller cell
Visualrod photoreceptor
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
intraspecies paralog to SLC28A3
Homologene
FAMILY
  • amino acid/polyamine transporter 2 family
  • CATEGORY signaling neurotransmitter , transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • SN2 is an isoform of the system N glutamine transporters which is the principal mediator of glutamine transport in retinal Müller cells and contributes significantly to glutamine uptake in ganglion cells and, hence,
  • contributes to the retinal glutamate-glutamine cycle
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS nervous system
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    inhibited by Gly, Ileu,Val, Arg, Lys, Glu, Asp and Phe
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism other A chromosomal aberration involving SLC38A5 is found in 3 brothers with non-syndromic mental retardation. However, the homozygous interstitial microdeletion at Xp11.23 causes also the loss of FTSJ1 and the link between SLC38A5 and the disease is not clear.
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS