SLC31A2
Solute Carrier Family 31 Member 2 (Copper Transporter 2)
Gene Information Card
| Symbol | SLC31A2 |
|---|---|
| Full Name | Solute Carrier Family 31 Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q32 |
| NCBI Gene ID | 1318 ncbi.nlm.nih.gov/gene/1318 |
| Ensembl ID | ENSG00000136872 |
| UniProt ID | O15432 |
| OMIM ID | 603074 |
| HGNC ID | 11017 |
| Aliases | CTR2, COPT2, hCTR2 |
Description
SLC31A2 (Solute Carrier Family 31 Member 2) encodes the copper transporter 2 (CTR2), a low-affinity copper uptake protein localized to the plasma membrane and intracellular vesicles. CTR2 mediates copper import into cells and also regulates copper efflux from endosomes, playing a role in copper homeostasis and cellular copper distribution. The gene is ubiquitously expressed with highest levels in the liver, kidney, and placenta.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Copper deficiency myelopathy | Impaired copper uptake due to CTR2 dysfunction | Case reports and functional studies (PMID: 23485563) |
| Menkes disease (indirect) | Altered copper transport may modify phenotype | Genetic interaction studies (OMIM #309400) |
| Cancer (various) | Dysregulated copper homeostasis promotes tumor growth | Expression and mutation data from COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Placenta | 8.9 | Medium |
| Brain | 4.1 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocellular carcinoma line |
| HEK293 | 11.7 | Embryonic kidney line |
| HeLa | 9.4 | Cervical adenocarcinoma line |
| A549 | 7.2 | Lung carcinoma line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely null allele |
| c.214C>T (p.Arg72Trp) | Missense | 0.02% | Reduced copper uptake activity |
| c.347G>A (p.Arg116Gln) | Missense | 0.01% | Altered protein stability |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the start codon or critical residues (e.g., p.Met1?, p.Arg72Trp) impair copper transport activity.
Gain of Function (GOF)
No gain-of-function mutations reported in SLC31A2.
Dominant Negative (DN)
No dominant-negative mutations described for SLC31A2.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005375 copper ion transmembrane transporter activity | • GO:0015677 copper ion import across plasma membrane |
| • GO:0005886 plasma membrane | • GO:0030141 secretory granule |
| • GO:0006878 cellular copper ion homeostasis |
Pathways
• Copper homeostasis (Reactome: R-HSA-437239)
• Metal ion SLC transporters (KEGG: hsa04978)
Protein Summary
Copper transporter 2 (CTR2) is a 143-amino-acid integral membrane protein with three predicted transmembrane domains. It functions as a homotrimer to mediate low-affinity copper uptake. CTR2 localizes to the plasma membrane and also to late endosomes/lysosomes, where it facilitates copper export into the cytosol. The protein is essential for maintaining cellular copper balance and is implicated in copper-related disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC31A2 Knockout HEK293 Cell Line | EDJ-KQ4318 | Human | 1318 | Details Get a Quote |
| SLC31A2 Knockout A-549 Cell Line | EDJ-KQ26807 | Human | 1318 | Details Get a Quote |
| SLC31A2 Knockout HCT 116 Cell Line | EDC07755 | Human | 1318 | Details Get a Quote |
| SLC31A2 Knockout HeLa Cell Line | EDJ-KQ26809 | Human | 1318 | Details Get a Quote |
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