NPM2 Gene: Nucleophosmin/Nucleoplasmin 2 - Function, Disease Associations, and Expression
Comprehensive biomedical overview of NPM2, including gene card, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | NPM2 |
|---|---|
| Full Name | Nucleophosmin/Nucleoplasmin 2 |
| Gene Type | protein coding |
| Chromosomal Location | 8p21.3 |
| NCBI Gene ID | 10561 ncbi.nlm.nih.gov/gene/10561 |
| Ensembl ID | ENSG00000171206 |
| UniProt ID | Q86SE8 |
| OMIM ID | 606184 |
| HGNC ID | 7911 |
| Aliases | NPM2, nucleoplasmin 2, NPM2 (nucleophosmin/nucleoplasmin 2) |
Description
NPM2 (nucleophosmin/nucleoplasmin 2) is a protein-coding gene located on chromosome 8p21.3. It encodes a nuclear chaperone protein involved in chromatin remodeling and histone storage, particularly in oocytes and early embryonic development. NPM2 is a member of the nucleoplasmin family and plays a critical role in sperm chromatin decondensation after fertilization. Mutations in NPM2 have been associated with female infertility and early embryonic arrest. The gene is expressed predominantly in the ovary and testis, with low expression in other tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Female infertility due to oocyte maturation defect | NPM2 mutations impair histone chaperone activity, leading to abnormal chromatin remodeling and oocyte developmental arrest. | ClinVar, OMIM (606184) |
| Early embryonic arrest | Loss-of-function mutations in NPM2 disrupt nucleoplasmin function, preventing proper sperm chromatin decondensation and zygotic genome activation. | ClinVar, OMIM (606184) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | nTPM: 12.3 | Medium |
| Testis | nTPM: 5.6 | Low |
| Fallopian tube | nTPM: 1.2 | Low |
| Endometrium | nTPM: 0.8 | Low |
| Other tissues | nTPM: <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | nTPM: 0.2 | Low expression |
| K562 | nTPM: 0.1 | Very low |
| MCF7 | nTPM: 0.3 | Low |
| HepG2 | nTPM: 0.1 | Very low |
| A549 | nTPM: 0.2 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare (not reported in large cohorts) | Loss of start codon, likely loss of function |
| c.502C>T (p.Arg168Trp) | Missense | Rare (found in infertile patients) | Impairs histone binding and chaperone activity |
| c.682G>A (p.Glu228Lys) | Missense | Rare (found in infertile patients) | Disrupts nucleoplasmin oligomerization |
| c.100delC (p.Leu34TrpfsTer26) | Frameshift | Rare (reported in ClinVar) | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most NPM2 mutations are loss-of-function, leading to reduced histone chaperone activity, impaired chromatin remodeling, and developmental failure.
Gain of Function (GOF)
No gain-of-function mutations have been reported for NPM2.
Dominant Negative (DN)
Some missense mutations (e.g., p.Arg168Trp) may exert dominant-negative effects by disrupting oligomerization and interfering with wild-type protein function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Chromatin remodeling
• Fertilization and embryonic development
• Histone chaperone pathway
Protein Summary
The NPM2 protein is a nuclear chaperone that binds histones and facilitates chromatin assembly and remodeling. It is essential for sperm chromatin decondensation after fertilization and for proper embryonic development. The protein contains an N-terminal core domain responsible for histone binding and a C-terminal domain involved in oligomerization. NPM2 is highly expressed in oocytes and early embryos, where it regulates chromatin structure. Mutations in NPM2 are linked to female infertility and early embryonic arrest.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NPM2 Knockout HEK293 Cell Line | EDJ-KQ7021 | Human | 10361 | Details Get a Quote |
| NPM2 Knockout HCT 116 Cell Line | EDJ-KQ31762 | Human | 10361 | Details Get a Quote |
| NPM2 Knockout HeLa Cell Line | EDJ-KQ55391 | Human | 10361 | Details Get a Quote |
| NPM2 Knockout A-549 Cell Line | EDJ-KQ63871 | Human | 10361 | Details Get a Quote |
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