Gene Gene information from NCBI Gene database.
Entrez ID 124935
Gene name Solute carrier family 43 member 2
Gene symbol SLC43A2
Synonyms (NCBI Gene)
LAT4
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
miRNA miRNA information provided by mirtarbase database.
372
miRTarBase ID miRNA Experiments Reference
MIRT530756 hsa-miR-4257 HITS-CLIP 19536157
MIRT530755 hsa-miR-4258 HITS-CLIP 19536157
MIRT530754 hsa-miR-5008-5p HITS-CLIP 19536157
MIRT530756 hsa-miR-4257 HITS-CLIP 19536157
MIRT530755 hsa-miR-4258 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0003333 Process Amino acid transmembrane transport IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
GO:0006865 Process Amino acid transport IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610791 23087 ENSG00000167703
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF07690 MFS_1 54 393 Major Facilitator Superfamily Family
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
MAPTLATAHRRRWWMACTAVLENLLFSAVLLGWGSLLIMLKSEGFYSYLCTEPENVTNGT
VGGTAEPGHEEVSWMNGWLSCQAQDEMLNLAFTVGSFLLSAITLPLGIVMDKYGPRKLRL
LGSACFAVSCLLIAYGASKPNALSVLIFIALALNGFGGMCMTFTSLTLPNMFGDLRSTFI
ALMIGSYASSAVTFPGIKLIYDAGVSFIVVLVVWAGCSGLVFLNCFFNWPLEPFPGPEDM
DYSVKIKFSWLGFDHKITGKQFYKQVTTVGRRLSVGSSMRSAKEQVALQEGHKLCLSTVD
LEVKCQPDAAVAPSFMHSVFSPILLLSLVTMCVTQLRLIFYMGAMNNILKFLVSGDQKTV
GLYTSIFGVLQLLCLLTAPVIGYIMDWRLKECE
DASEEPEEKDANQGEKKKKKRDRQIQK
ITNAMRAFAFTNLLLVGFGVTCLIPNLPLQILSFILHTIVRGFIHSAVGGLYAAVYPSTQ
FGSLTGLQSLISALFALLQQPLFLAMMGPLQGDPLWVNVGLLLLSLLGFCLPLYLICYRR
QLERQLQQRQEDDKLFLKINGSSNQEAFV
Sequence length 569
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Amino acid transport across the plasma membrane
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
Acute myeloid leukemia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Esophageal Squamous Cell Carcinoma Associate 37268653
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Associate 37409118
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 37268653
★☆☆☆☆
Found in Text Mining only
Panic Disorder Associate 31754096, 33542190
★☆☆☆☆
Found in Text Mining only
Phobia Social Associate 33542190
★☆☆☆☆
Found in Text Mining only