SLC3A2

Description

The SLC3A2 (solute carrier family 3 member 2) is a protein-coding gene located on chromosome 11.

4F2 cell-surface antigen heavy chain is a protein that in humans is encoded by the SLC3A2 (solute carrier family 3 member 2) gene. SLC3A2 comprises the heavy subunit of the large neutral amino acid transporter (LAT1) that is also known as CD98 (cluster of differentiation 98).

== Function == SLC3A2 is a member of the solute carrier family and encodes a cell surface, transmembrane protein with an alpha-amylase domain. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds to one of several possible light chains. It associates with integrins and mediates integrin-dependent signaling related to normal cell growth and tumorigenesis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. LAT1 is a heterodimeric membrane transport protein that preferentially transports neutral branched (valine, leucine, isoleucine) and aromatic (tryptophan, tyrosine, phenylalanine) amino acids. LAT is highly expressed in brain capillaries (which form the blood brain barrier) relative to other tissues. A functional LAT1 transporter is composed of two proteins encoded by two distinct genes:

4F2hc/CD98 heavy subunit protein encoded by the SLC3A2 gene (this gene) CD98 light subunit protein encoded by the SLC7A5 gene

== Interactions == SLC3A2 has been shown to interact with SLC7A7. Additionally, SLC3A2 is a constituent member of the system xc- cystine/glutamate antiporter, complexing with SLC7A11.

SLC3A2 acts as a chaperone that facilitates the production and delivery of functional transporter heterodimers to the cell membrane. It forms heterodimers with members of the SLC7 family of transporters (SLC7A5, SLC7A6, SLC7A7, SLC7A8, SLC7A10, and SLC7A11), which are a group of amino acid antiporters. These heterodimers function as amino acid exchangers, with the specific amino acid transported depending on the SLC7A subunit. For example, SLC3A2/SLC7A6 and SLC3A2/SLC7A7 transport dibasic amino acids. The heterodimer SLC3A2/SLC7A11 acts as an antiporter, exchanging extracellular L-cystine for intracellular L-glutamate across the cell membrane. SLC3A2/SLC7A10 transports small, neutral L- and D-amino acids. SLC3A2/SLC75 and SLC3A2/SLC7A8 transport a wide range of neutral amino acids, thyroid hormones, and L-DOPA. SLC3A2 is crucial for the proper localization, stability, and transport activity of SLC7A5 and SLC7A8. When associated with LAPTM4B, the heterodimer SLC7A5 is directed to lysosomes, where it promotes leucine uptake and activates mTORC1 signaling. SLC3A2 also plays a role in integrin-related signaling and is essential for integrin-dependent cell spreading, migration, and tumor progression.

SLC3A2 is also known as 4F2, 4F2HC, 4T2HC, CD98, CD98HC, MDU1, NACAE.

Associated Diseases

WES Whole Exome Sequencing