NPM2 (nucleophosmin/nucleoplasmin 2)

Gene

• Entrez ID: 10361
• Gene name: Nucleophosmin/nucleoplasmin 2
• Gene symbol: NPM2
• Synonyms (NCBI Gene): -
• Chromosome: 8
• Chromosome location: 8p21.3

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	12714744
GO:0001824	Process	Blastocyst development	IMP	12714744
GO:0003682	Function	Chromatin binding	IBA
GO:0003682	Function	Chromatin binding	IEA
GO:0003723	Function	RNA binding	IBA
GO:0005515	Function	Protein binding	IPI	25416956, 26871637, 28514442, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	IDA	12714744
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IBA
GO:0005730	Component	Nucleolus	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IBA
GO:0006338	Process	Chromatin remodeling	IDA	12714744
GO:0006338	Process	Chromatin remodeling	IEA
GO:0007096	Process	Regulation of exit from mitosis	IMP	12714744
GO:0007338	Process	Single fertilization	IEA
GO:0007338	Process	Single fertilization	IMP	12714744
GO:0009994	Process	Oocyte differentiation	IEP	12714744
GO:0019899	Function	Enzyme binding	IEA
GO:0042393	Function	Histone binding	IBA
GO:0042393	Function	Histone binding	TAS	12581654
GO:0042802	Function	Identical protein binding	IEA
GO:0045740	Process	Positive regulation of DNA replication	IBA
GO:0045740	Process	Positive regulation of DNA replication	IEA
GO:0045836	Process	Positive regulation of meiotic nuclear division	IMP	12714744
GO:0051054	Process	Positive regulation of DNA metabolic process	IEA

Other IDs

• MIM: 608073
• HGNC: 7930
• e!Ensembl: ENSG00000158806

Protein

• UniProt ID: Q86SE8
• Protein name: Nucleoplasmin-2
• Protein function: Core histones chaperone involved in chromatin reprogramming, specially during fertilization and early embryonic development. Probably involved in sperm DNA decondensation during fertilization.
• PDB: 3T30
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03066	Nucleoplasmin	18 → 121	Nucleoplasmin/nucleophosmin domain	Domain

• Sequence:

  MNLSSASSTEEKAVTTVLWGCELSQERRTWTFRPQLEGKQSCRLLLHTICLGEKAKEEMH
  RVEILPPANQEDKKMQPVTIASLQASVLPMVSMVGVQLSPPVTFQLRAGSGPVFLSGQER
  YEASDLTWEEEEEEEGEEEEEEEEDDEDEDADISLEEQSPVKQVKRLVPQKQASVAKKKK
  LEKEEEEIRASVRDKSPVKKAKATARAKKPGFKK

• Sequence length: 214

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BILE DUCT DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27260798	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Embolism	Intracranial embolism	Pubtator	36280841	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	18523155	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	18523155	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30719424		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	36280841	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	26646589	Associate	★☆☆☆☆ Found in Text Mining only