Gene Gene information from NCBI Gene database.
Entrez ID 23428
Gene name Solute carrier family 7 member 8
Gene symbol SLC7A8
Synonyms (NCBI Gene)
LAT2LPI-PC1
Chromosome 14
Chromosome location 14q11.2
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs752482499 C>T Likely-pathogenic Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs759951698 T>C Likely-pathogenic Intron variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
618
miRTarBase ID miRNA Experiments Reference
MIRT1368361 hsa-miR-1229 CLIP-seq
MIRT1368362 hsa-miR-320e CLIP-seq
MIRT1368363 hsa-miR-342-5p CLIP-seq
MIRT1368364 hsa-miR-3675-5p CLIP-seq
MIRT1368365 hsa-miR-4328 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
68
GO ID Ontology Definition Evidence Reference
GO:0003333 Process Amino acid transmembrane transport IBA
GO:0005515 Function Protein binding IPI 12716892, 32296183, 32814053, 33298890
GO:0005886 Component Plasma membrane IDA 10391915, 19075510
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane IGI 10391915
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604235 11066 ENSG00000092068
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UHI5
Protein name Large neutral amino acids transporter small subunit 2 (L-type amino acid transporter 2) (hLAT2) (Solute carrier family 7 member 8)
Protein function Associates with SLC3A2 to form a functional heterodimeric complex that translocates small and large neutral amino acids with broad specificity and a stoichiometry of 1:1. Functions as amino acid antiporter mediating the influx of extracellular e
PDB 7B00 , 7CMH , 7CMI , 8A6L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13520 AA_permease_2 40 465 Amino acid permease Family
Tissue specificity TISSUE SPECIFICITY: Strongest expression is observed in kidney and moderate expression in placenta and brain, followed by liver, prostate, testis, ovary, lymph node, thymus, spleen, skeletal muscle and heart. Also expressed in fetal liver as well as in th
Sequence
Sequence length 535
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein digestion and absorption   Basigin interactions
Amino acid transport across the plasma membrane
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Short stature Likely pathogenic rs759951698, rs752482499 RCV000736136
RCV000736137
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32235589
Attention Deficit Disorder with Hyperactivity Associate 32066674
Breast Neoplasms Associate 32200487, 35217381
Carcinoma Basal Cell Associate 29938775
Diabetes Mellitus Type 2 Associate 36364703
Diabetic Retinopathy Associate 36364703
Esophageal Squamous Cell Carcinoma Associate 34494553
Growth Disorders Associate 30809043
Leiomyoma Associate 19808856, 35715314, 36375056
Neoplasm Metastasis Associate 36626488