SLC38A5 (solute carrier family 38 member 5)

2014-11-01  

Identity

HGNC
LOCATION
Xp11.23
LOCUSID
ALIAS
JM24,SN2,SNAT5,pp7194
FUSION GENES

Other Information

Locus ID:

NCBI: 92745
MIM: 300649
HGNC: 18070
Ensembl: ENSG00000017483

Variants:

dbSNP: 92745
ClinVar: 92745
TCGA: ENSG00000017483
COSMIC: SLC38A5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000017483ENST00000413668C9JHH7
ENSG00000017483ENST00000416711C9JMY2
ENSG00000017483ENST00000429543C9JJU1
ENSG00000017483ENST00000440085C9JNK4
ENSG00000017483ENST00000441948C9JWG4
ENSG00000017483ENST00000488083C9JJU1
ENSG00000017483ENST00000494034A0A087WZF9
ENSG00000017483ENST00000595796Q8WUX1
ENSG00000017483ENST00000595796A0A024QYY0
ENSG00000017483ENST00000619100Q8WUX1
ENSG00000017483ENST00000620913Q8WUX1
ENSG00000017483ENST00000620913A0A024QYY0
ENSG00000017483ENST00000622196A0A087X1I6

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
GABAergic synapseKEGGko04727
GABAergic synapseKEGGhsa04727
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393
Amino acid transport across the plasma membraneREACTOMER-HSA-352230

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
173332822007Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.15
294996432018Identification of placental nutrient transporters associated with intrauterine growth restriction and pre-eclampsia.11

Citation

Dessen P

SLC38A5 (solute carrier family 38 member 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73425/slc38a5