Gene Gene information from NCBI Gene database.
Entrez ID 10991
Gene name Solute carrier family 38 member 3
Gene symbol SLC38A3
Synonyms (NCBI Gene)
DEE102G17NAT1SN1SNAT3
Chromosome 3
Chromosome location 3p21.31
miRNA miRNA information provided by mirtarbase database.
21
miRTarBase ID miRNA Experiments Reference
MIRT1363005 hsa-miR-143 CLIP-seq
MIRT1363006 hsa-miR-1915 CLIP-seq
MIRT1363007 hsa-miR-4685-5p CLIP-seq
MIRT1363008 hsa-miR-4770 CLIP-seq
MIRT2107651 hsa-miR-1275 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
64
GO ID Ontology Definition Evidence Reference
GO:0003333 Process Amino acid transmembrane transport IBA
GO:0005290 Function L-histidine transmembrane transporter activity IBA
GO:0005290 Function L-histidine transmembrane transporter activity IDA 10823827
GO:0005290 Function L-histidine transmembrane transporter activity IEA
GO:0005295 Function Neutral L-amino acid:sodium symporter activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604437 18044 ENSG00000188338
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99624
Protein name Sodium-coupled neutral amino acid transporter 3 (N-system amino acid transporter 1) (Na(+)-coupled neutral amino acid transporter 3) (Solute carrier family 38 member 3) (System N amino acid transporter 1)
Protein function Symporter that cotransports specific neutral amino acids and sodium ions, coupled to an H(+) antiporter activity (PubMed:10823827). Mainly participates in the glutamate-GABA-glutamine cycle in brain where it transports L-glutamine from astrocyte
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01490 Aa_trans 64 491 Transmembrane amino acid transporter protein Family
Sequence
Sequence length 504
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glutamatergic synapse
GABAergic synapse
Proximal tubule bicarbonate reclamation
  Amino acid transport across the plasma membrane
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Developmental and epileptic encephalopathy 102 Likely pathogenic; Pathogenic rs2109159077, rs2109157808, rs1368316485, rs2109158868, rs2109158872, rs1437118005 RCV002250376
RCV002250384
RCV002250385
RCV002250386
RCV002250387
View all (1 more)
★★★★★
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
CANNABIS DEPENDENCE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL HEART MALFORMATIONS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GENERALISED EPILEPSY 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
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10868688, 29214875
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 18491231
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 11266080
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 12485520
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 21347396
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 10585581
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 15987714
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 16981843, 8895478
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 11875368, 22905173, 8895478, 9682272
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 14724163
★☆☆☆☆
Found in Text Mining only