Gene Gene information from NCBI Gene database.
Entrez ID 92745
Gene name Solute carrier family 38 member 5
Gene symbol SLC38A5
Synonyms (NCBI Gene)
JM24SN2SNAT5pp7194
Chromosome X
Chromosome location Xp11.23
Summary The protein encoded by this gene is a system N sodium-coupled amino acid transporter. The encoded protein transports glutamine, asparagine, histidine, serine, alanine, and glycine across the cell membrane, but does not transport charged amino acids, imino
miRNA miRNA information provided by mirtarbase database.
164
miRTarBase ID miRNA Experiments Reference
MIRT001413 hsa-miR-16-5p pSILAC 18668040
MIRT020892 hsa-miR-155-5p Proteomics 18668040
MIRT022809 hsa-miR-124-3p Microarray 18668037
MIRT028564 hsa-miR-30a-5p Proteomics 18668040
MIRT001413 hsa-miR-16-5p Proteomics;Other 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0005290 Function L-histidine transmembrane transporter activity IMP 11243884
GO:0005290 Function L-histidine transmembrane transporter activity ISS
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300649 18070 ENSG00000017483
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WUX1
Protein name Sodium-coupled neutral amino acid transporter 5 (Solute carrier family 38 member 5) (System N transporter 2)
Protein function Symporter that cotransports neutral amino acids and sodium ions, coupled to an H(+) antiporter activity (PubMed:11243884). Releases L-glutamine and glycine from astroglial cells and may participate in the glutamate/GABA-L-glutamine cycle and the
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01490 Aa_trans 46 460 Transmembrane amino acid transporter protein Family
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in stomach, brain, liver, lung and intestinal tract. {ECO:0000269|PubMed:11243884}.
Sequence
Sequence length 472
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  GABAergic synapse   Amino acid transport across the plasma membrane
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Abnormality of neuronal migration Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP II Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SLC38A5-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anaplastic astrocytoma Anaplastic Astrocytoma BEFREE 15094455
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 12381519 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes BEFREE 29954738
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 29954738
★☆☆☆☆
Found in Text Mining only
Enteritis Enteritis BEFREE 29271063
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 15094455
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 15094455
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation BEFREE 17333282
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation LHGDN 17333282
★☆☆☆☆
Found in Text Mining only
Malignant Glioma Glioma BEFREE 15094455
★☆☆☆☆
Found in Text Mining only