2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
magnesium ion transportmembranemagnesium ion transmembrane transporter activitymagnesium ion transmembrane transporttoxic epidermal necrolysisresponse to anticonvulsantStevens-Johnson syndromeAbnormality of the skeletal system
Based on limited published evidence, NIPAL2 encodes a NIPA-like domain-containing protein with annotated functions in magnesium ion transport and membrane localization. In a genome-wide DNA methylation study of anthracycline-induced cardiomyopathy, NIPAL2 knockout in human induced pluripotent stem cell cardiomyocytes increased sensitivity to doxorubicin, suggesting a potential cardioprotective role 1. NIPAL2 was also identified as part of a seven-gene prognostic signature for relapsed acute lymphoblastic leukemia, associated with recurrence and overall survival outcomes 2. The specific molecular mechanisms underlying these associations require further investigation.
1
NIPAL2 knockout in hiPSC-derived cardiomyocytes increased sensitivity to doxorubicin, implicating a role in anthracycline cardiotoxicity resistance
PMID: 375421432
NIPAL2 was identified as part of a seven-gene prognostic signature for predicting recurrence and overall survival in relapsed acute lymphoblastic leukemia
PMID: 34211824β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
response to anticonvulsantOpen Targets
Stevens-Johnson syndromeOpen Targets
toxic epidermal necrolysisOpen Targets
Abnormality of the skeletal systemOpen Targets
HypercholesterolemiaOpen Targets
brain diseaseOpen Targets
facial morphologyOpen Targets
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
hemoglobin D diseaseOpen Targets
dominant beta-thalassemiaOpen Targets
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
hemoglobin H diseaseOpen Targets
Hemoglobin C - beta-thalassemiaOpen Targets
hemoglobin C-beta-thalassemia syndromeOpen Targets
hemoglobin E diseaseOpen Targets
hemolytic anemia due to diphosphoglycerate mutase deficiencyOpen Targets
hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeOpen Targets
overhydrated hereditary stomatocytosisOpen Targets
Beta-thalassemia - X-linked thrombocytopeniaOpen Targets
No pathogenic variants reported on ClinVar for this gene.