SLC43A2 (solute carrier family 43 member 2)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 124935 |
| Gene name | Solute carrier family 43 member 2 |
| Gene symbol | SLC43A2 |
| Synonyms (NCBI Gene) |
LAT4
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| Chromosome | 17 |
| Chromosome location | 17p13.3 |
| Summary | This gene encodes a member of the L-amino acid transporter-3 or SLC43 family of transporters. The encoded protein mediates sodium-, chloride-, and pH-independent transport of L-isomers of neutral amino acids, including leucine, phenylalanine, valine and m |
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miRNA
miRNA information provided by mirtarbase database.
372
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q8N370 | ||||||||||
| Protein name | Large neutral amino acids transporter small subunit 4 (L-type amino acid transporter 4) (Solute carrier family 43 member 2) | ||||||||||
| Protein function | Uniporter that mediates the transport of the stereospecific L-phenylalanine, L-methionine and L-branched-chain amino acids, between the extracellular space and the cytoplasm and may control the transepithelial (re)absorption of neutral amino aci | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Detected in several tissues with higher expression in placenta, kidney and peripheral blood leukocytes (PubMed:15659399). In the kidney, is detected in epithelial cells of the distal tubule and collecting duct (PubMed:15659399). In the | ||||||||||
| Sequence |
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| Sequence length | 569 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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