NIPAL2: NIPA-Like Domain Containing 2
A magnesium transporter gene with potential roles in cancer and neurological disorders
Gene Information Card
| Symbol | NIPAL2 |
|---|---|
| Full Name | NIPA-Like Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 79815 ncbi.nlm.nih.gov/gene/79815 |
| Ensembl ID | ENSG00000142611 |
| UniProt ID | Q9H841 |
| OMIM ID | 616401 |
| HGNC ID | 25956 |
| Aliases | FLJ22662, MGC131895, NIPA2L |
Description
NIPAL2 (NIPA-Like Domain Containing 2) encodes a protein belonging to the NIPA family of magnesium transporters. The protein is predicted to function as a magnesium ion transporter, involved in cellular magnesium homeostasis. NIPAL2 is expressed in various tissues and has been implicated in cancer progression and neurological conditions. Its exact physiological role and disease associations are under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect magnesium-dependent signaling and cell proliferation | COSMIC mutation data; expression studies |
| Neurological disorders | Potential role in magnesium homeostasis in neurons | OMIM; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Liver | 8.1 | Low |
| Heart | 7.4 | Low |
| Lung | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | Moderate expression |
| HeLa | 11.8 | Moderate expression |
| K562 | 9.5 | Low expression |
| MCF7 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown functional effect |
| c.205G>A (p.Gly69Ser) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Not established for NIPAL2
Gain of Function (GOF)
Not established for NIPAL2
Dominant Negative (DN)
Not established for NIPAL2
View complete mutation data：
Gene Ontology (GO)
| • magnesium ion transmembrane transporter activity | • magnesium ion transport |
| • integral component of membrane |
Pathways
• Magnesium transport
Protein Summary
NIPAL2 is a 337-amino acid protein with a NIPA-like domain, predicted to contain multiple transmembrane helices. It is localized to the cell membrane and possibly endomembranes, facilitating magnesium ion transport. The protein shares homology with NIPA1 and NIPA2, which are known magnesium transporters. Structural and functional studies are limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NIPAL2 Knockout HEK293 Cell Line | EDJ-KQ14425 | Human | 79815 | Details Get a Quote |
| NIPAL2 Knockout A-549 Cell Line | EDJ-KQ44634 | Human | 79815 | Details Get a Quote |
| NIPAL2 Knockout HCT 116 Cell Line | EDC07810 | Human | 79815 | Details Get a Quote |
| NIPAL2 Knockout HeLa Cell Line | EDJ-KQ44636 | Human | 79815 | Details Get a Quote |
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