SLC43A2: Solute Carrier Family 43 Member 2
A comprehensive biomedical overview of the SLC43A2 gene, including genomic context, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | SLC43A2 |
|---|---|
| Full Name | Solute Carrier Family 43 Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 124935 ncbi.nlm.nih.gov/gene/124935 |
| Ensembl ID | ENSG00000167701 |
| UniProt ID | Q8N370 |
| OMIM ID | 612458 |
| HGNC ID | 26119 |
| Aliases | LAT3, POV1, PB39 |
Description
SLC43A2 (Solute Carrier Family 43 Member 2) encodes a sodium-independent, system L-like amino acid transporter that mediates the uptake of large neutral amino acids such as leucine, isoleucine, and phenylalanine. The protein is localized to the plasma membrane and is involved in cellular amino acid homeostasis. SLC43A2 is also known as LAT3 (L-type amino acid transporter 3) and has been implicated in cancer cell proliferation and survival.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression of SLC43A2 promotes amino acid uptake supporting tumor growth | COSMIC, literature |
| Prostate cancer | SLC43A2 (POV1) is overexpressed in prostate cancer tissues | NCBI, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Testis | 6.7 | Low |
| Brain | 2.1 | Low |
| Lung | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| A549 | 9.8 | Lung adenocarcinoma cell line |
| PC-3 | 11.4 | Prostate cancer cell line |
| MCF7 | 4.5 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1003G>A (p.Gly335Arg) | Missense | <0.01% | Unknown |
| c.1246C>T (p.Arg416Trp) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
Overexpression in cancer suggests potential gain-of-function via increased amino acid transport.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005326 – amino acid transmembrane transporter activity | • GO:0015171 – amino acid transmembrane transport |
| • GO:0016020 – membrane | • GO:0005886 – plasma membrane |
Pathways
• Amino acid transport across the plasma membrane
• mTOR signaling (indirect via leucine transport)
Protein Summary
SLC43A2 is a 559-amino acid transmembrane protein with 12 putative membrane-spanning domains. It functions as a sodium-independent transporter for large neutral amino acids, particularly leucine. The protein is expressed in liver, kidney, and testis, and is upregulated in several cancers, where it may contribute to nutrient supply for rapid cell growth.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC43A2 Knockout HEK293 Cell Line | EDC08115 | Human | 124935 | Details Get a Quote |
| SLC43A2 Knockout HCT 116 Cell Line | EDJ-KQ33571 | Human | 124935 | Details Get a Quote |
| SLC43A2 Knockout A-549 Cell Line | EDJ-KQ34842 | Human | 124935 | Details Get a Quote |
| SLC43A2 Knockout HeLa Cell Line | EDJ-KQ34843 | Human | 124935 | Details Get a Quote |
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