Gene Gene information from NCBI Gene database.
Entrez ID 54407
Gene name Solute carrier family 38 member 2
Gene symbol SLC38A2
Synonyms (NCBI Gene)
ATA2PRO1068SAT2SNAT2
Chromosome 12
Chromosome location 12q13.11
miRNA miRNA information provided by mirtarbase database.
1945
miRTarBase ID miRNA Experiments Reference
MIRT005160 hsa-miR-30a-5p pSILAC 18668040
MIRT017766 hsa-miR-335-5p Microarray 18185580
MIRT022556 hsa-miR-124-3p Microarray 18668037
MIRT027261 hsa-miR-101-3p Sequencing 20371350
MIRT005160 hsa-miR-30a-5p Proteomics;Other 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
77
GO ID Ontology Definition Evidence Reference
GO:0003333 Process Amino acid transmembrane transport IBA
GO:0003333 Process Amino acid transmembrane transport IMP 10930503
GO:0005283 Function Amino acid:sodium symporter activity IDA 15774260
GO:0005283 Function Amino acid:sodium symporter activity IEA
GO:0005295 Function Neutral L-amino acid:sodium symporter activity IDA 10930503
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605180 13448 ENSG00000134294
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96QD8
Protein name Sodium-coupled neutral amino acid symporter 2 (Amino acid transporter A2) (Protein 40-9-1) (Solute carrier family 38 member 2) (System A amino acid transporter 2) (System A transporter 1) (System N amino acid transporter 2)
Protein function Symporter that cotransports neutral amino acids and sodium ions from the extracellular to the intracellular side of the cell membrane (PubMed:10930503, PubMed:15774260, PubMed:15922329, PubMed:16621798). The transport is pH-sensitive, Li(+)-into
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01490 Aa_trans 69 495 Transmembrane amino acid transporter protein Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed (PubMed:10930503). Expressed in neocortex (PubMed:16616430). Widely expressed in the central nervous system with higher concentrations in caudal regions. Expressed by glutamatergic and GABAergic neurons together
Sequence
Sequence length 506
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glutamatergic synapse
GABAergic synapse
Protein digestion and absorption
  Glutamate Neurotransmitter Release Cycle
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
PARKINSON DISEASE CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
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
Alzheimer Disease Alzheimer disease Pubtator 33875655 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 28583479
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 31152137
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33028955 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 36918802 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 32341021 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 33989714 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 29467657
★☆☆☆☆
Found in Text Mining only
Dwarfism Dwarfism BEFREE 29607549
★☆☆☆☆
Found in Text Mining only
Fibromuscular Dysplasia Fibromuscular Dysplasia BEFREE 27718336, 30462886
★☆☆☆☆
Found in Text Mining only