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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NIPAL2
NIPA like domain containing 2
Chromosome 8 Β· 8q22.2
NCBI Gene: 79815Ensembl: ENSG00000104361.11HGNC: HGNC:25854UniProt: Q9H841
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
magnesium ion transportmembranemagnesium ion transmembrane transporter activitymagnesium ion transmembrane transporttoxic epidermal necrolysisresponse to anticonvulsantStevens-Johnson syndromeAbnormality of the skeletal system
✦AI Summary

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.

Sources cited
1
NIPAL2 knockout in hiPSC-derived cardiomyocytes increased sensitivity to doxorubicin, implicating a role in anthracycline cardiotoxicity resistance
PMID: 37542143
2
NIPAL2 was identified as part of a seven-gene prognostic signature for predicting recurrence and overall survival in relapsed acute lymphoblastic leukemia
PMID: 34211824
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
response to anticonvulsantOpen Targets
0.33Weak
Stevens-Johnson syndromeOpen Targets
0.33Weak
toxic epidermal necrolysisOpen Targets
0.33Weak
Abnormality of the skeletal systemOpen Targets
0.32Weak
HypercholesterolemiaOpen Targets
0.31Weak
brain diseaseOpen Targets
0.26Weak
eye diseaseOpen Targets
0.24Weak
facial morphologyOpen Targets
0.24Weak
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
dominant beta-thalassemiaOpen Targets
0.05Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.05Suggestive
hemoglobin H diseaseOpen Targets
0.05Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.04Suggestive
hemoglobin E diseaseOpen Targets
0.04Suggestive
hemolytic anemia due to diphosphoglycerate mutase deficiencyOpen Targets
0.04Suggestive
hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeOpen Targets
0.04Suggestive
overhydrated hereditary stomatocytosisOpen Targets
0.04Suggestive
Beta-thalassemia - X-linked thrombocytopeniaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
NIPAL3Shared pathway100%NIPAL4Shared pathway100%NIPAL1Shared pathway100%NIPA1Shared pathway100%NIPA2Shared pathway100%MAGT1Protein interaction66%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
45%
Heart
35%
Lung
27%
Liver
18%
Brain
15%
Gene Interaction Network
Click a node to explore
NIPAL2NIPAL3NIPAL4NIPAL1NIPA1NIPA2MAGT1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9H841
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.05LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.70 [0.48–1.05]
RankingsWhere NIPAL2 stands among ~20K protein-coding genes
  • #16,510of 20,598
    Most Researched12
  • #10,511of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedNIPAL2
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Identification of novel hypermethylated or hypomethylated CpG sites and genes associated with anthracycline-induced cardiomyopathy.
PMID: 37542143
Sci Rep Β· 2023
1.00
2
Identification of a Seven-lncRNA-mRNA Signature for Recurrence and Prognostic Prediction in Relapsed Acute Lymphoblastic Leukemia Based on WGCNA and LASSO Analyses.
PMID: 34211824
Anal Cell Pathol (Amst) Β· 2021
0.50