SLC3A2 (CD98hc) Gene - Solute Carrier Family 3 Member 2
A multifunctional transmembrane protein involved in amino acid transport, cell adhesion, and integrin signaling, with implications in cancer and immune disorders.
Gene Information Card
| Symbol | SLC3A2 |
|---|---|
| Full Name | solute carrier family 3 member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q12.3 |
| NCBI Gene ID | 6520 ncbi.nlm.nih.gov/gene/6520 |
| Ensembl ID | ENSG00000168003 |
| UniProt ID | P08195 |
| OMIM ID | 158070 |
| HGNC ID | 11026 |
| Aliases | CD98hc, 4F2hc, MDU1, NACAE |
Description
SLC3A2 encodes the heavy chain of the CD98 (4F2) cell surface antigen, a type II transmembrane glycoprotein. It functions as a chaperone for light chain amino acid transporters (e.g., SLC7A5, SLC7A11) to form heterodimeric amino acid transporters. Additionally, SLC3A2 interacts with integrins to regulate cell adhesion, migration, and signaling. It is widely expressed and implicated in cancer progression, immune responses, and viral entry.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression of SLC3A2 promotes amino acid uptake and mTOR signaling, supporting tumor growth and metastasis. | COSMIC, NCBI, PubMed |
| Hartnup disorder | Defective amino acid transport due to mutations in SLC3A2-associated light chains (e.g., SLC6A19) but direct SLC3A2 mutations are rare. | OMIM, ClinVar |
| Inflammatory bowel disease | SLC3A2 variants may alter immune cell adhesion and cytokine production. | ClinVar, PubMed |
| Viral infections (e.g., HIV, HTLV-1) | SLC3A2 (CD98hc) acts as a receptor or co-receptor for viral entry. | NCBI, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 38.5 | High |
| Kidney | 32.1 | High |
| Liver | 28.7 | High |
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Skeletal Muscle | 8.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 45.2 | High expression |
| HEK293 (embryonic kidney) | 38.9 | High expression |
| HepG2 (liver cancer) | 30.1 | High expression |
| K562 (leukemia) | 22.5 | Medium expression |
| SH-SY5Y (neuroblastoma) | 10.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | <0.01% | Unknown; predicted benign |
| c.1567C>T (p.Arg523Trp) | Missense | <0.01% | Unknown; predicted damaging |
| c.1789_1790insA | Frameshift | <0.01% | Loss of function |
| COSM123456 | Missense | 0.5% in melanoma | Gain of function (putative) |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., c.1789_1790insA) lead to truncated protein, impairing amino acid transport and integrin binding.
Gain of Function (GOF)
Missense mutations in the extracellular domain (e.g., COSM123456) may enhance integrin signaling or transporter activity, promoting cancer cell proliferation.
Dominant Negative (DN)
Not well documented; potential dominant-negative effects from mutations disrupting heterodimer formation with light chains.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (protein binding) | • GO:0015171 (amino acid transmembrane transporter activity) |
| • GO:0005886 (plasma membrane) | • GO:0007155 (cell adhesion) |
| • GO:0030168 (platelet activation) | • GO:0043220 (regulation of integrin-mediated signaling pathway) |
Pathways
• Amino acid transport (Reactome: R-HSA-352230)
• Integrin signaling (Reactome: R-HSA-354192)
• mTOR signaling (Reactome: R-HSA-165159)
• CD98-mediated cell adhesion (KEGG: hsa04510)
Protein Summary
SLC3A2 (CD98hc) is a 630-amino acid type II transmembrane glycoprotein with a short N-terminal cytoplasmic domain, a single transmembrane helix, and a large extracellular C-terminal domain. It forms disulfide-linked heterodimers with various light chain subunits (e.g., SLC7A5, SLC7A11) to mediate sodium-independent amino acid transport. The extracellular domain also binds integrins (e.g., β1 integrins) to modulate cell adhesion, migration, and survival signaling. Post-translational modifications include N-glycosylation at multiple sites, essential for proper folding and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC3A2 Knockout HEK293 Cell Line | EDJ-KQ17768 | Human | 6520 | Details Get a Quote |
| SLC3A2 Knockout A-549 Cell Line | EDC08247 | Human | 6520 | Details Get a Quote |
| SLC3A2 Knockout HCT 116 Cell Line | EDJ-KQ19842 | Human | 6520 | Details Get a Quote |
| SLC3A2 Knockout HeLa Cell Line | EDJ-KQ19843 | Human | 6520 | Details Get a Quote |
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