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NPM2 nucleophosmin/nucleoplasmin 2 [ Homo sapiens (human) ]

Gene ID: 10361, updated on 9-Nov-2022

Summary

Official Symbol
NPM2provided by HGNC
Official Full Name
nucleophosmin/nucleoplasmin 2provided by HGNC
Primary source
HGNC:HGNC:7930
See related
Ensembl:ENSG00000158806 MIM:608073; AllianceGenome:HGNC:7930
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to enable RNA binding activity; chromatin binding activity; and histone binding activity. Involved in several processes, including blastocyst development; oocyte differentiation; and regulation of cell cycle process. Located in chromatin and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in thyroid (RPKM 3.7), brain (RPKM 3.7) and 12 other tissues See more
Orthologs
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Genomic context

See NPM2 in Genome Data Viewer
Location:
8p21.3
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (22024134..22036897)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (22298091..22310854)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (21881645..21894408)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene exportin 7 Neighboring gene uncharacterized LOC124901903 Neighboring gene VISTA enhancer hs783 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21893938-21894622 Neighboring gene VISTA enhancer hs782 Neighboring gene VISTA enhancer hs781 Neighboring gene fibroblast growth factor 17 Neighboring gene dematin actin binding protein

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ45699, MGC78655

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables histone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables histone binding TAS
Traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in blastocyst development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in chromatin remodeling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in chromatin remodeling IDA
Inferred from Direct Assay
more info
PubMed 
involved_in oocyte differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in positive regulation of DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of meiotic nuclear division IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of exit from mitosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in single fertilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in chromatin IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001286680.2NP_001273609.1  nucleoplasmin-2 isoform 1

    See identical proteins and their annotated locations for NP_001273609.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AY262113, DB262972
    Consensus CDS
    CCDS6018.1
    UniProtKB/Swiss-Prot
    Q6NVH6, Q86SE8
    Related
    ENSP00000427741.1, ENST00000518119.6
    Conserved Domains (1) summary
    pfam03066
    Location:18119
    Nucleoplasmin; Nucleoplasmin/nucleophosmin domain
  2. NM_001286681.2NP_001273610.1  nucleoplasmin-2 isoform 2

    See identical proteins and their annotated locations for NP_001273610.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an exon in the 3' coding region which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC091171
    Consensus CDS
    CCDS75703.1
    UniProtKB/Swiss-Prot
    Q86SE8
    Related
    ENSP00000370941.5, ENST00000381530.9
    Conserved Domains (1) summary
    pfam03066
    Location:18119
    Nucleoplasmin; Nucleoplasmin/nucleophosmin domain
  3. NM_001413113.1NP_001400042.1  nucleoplasmin-2 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC091171
    UniProtKB/Swiss-Prot
    Q6NVH6
  4. NM_001413114.1NP_001400043.1  nucleoplasmin-2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC091171
  5. NM_001413115.1NP_001400044.1  nucleoplasmin-2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC091171
  6. NM_001413116.1NP_001400045.1  nucleoplasmin-2 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC091171
    UniProtKB/Swiss-Prot
    Q6NVH6
  7. NM_001413117.1NP_001400046.1  nucleoplasmin-2 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC091171
  8. NM_001413118.1NP_001400047.1  nucleoplasmin-2 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC091171
  9. NM_001413119.1NP_001400048.1  nucleoplasmin-2 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC091171
  10. NM_001413120.1NP_001400049.1  nucleoplasmin-2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC091171
  11. NM_001413121.1NP_001400050.1  nucleoplasmin-2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC091171
  12. NM_182795.2NP_877724.1  nucleoplasmin-2 isoform 1

    See identical proteins and their annotated locations for NP_877724.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC091171
    Consensus CDS
    CCDS6018.1
    UniProtKB/Swiss-Prot
    Q6NVH6, Q86SE8
    Related
    ENSP00000289820.6, ENST00000289820.10
    Conserved Domains (1) summary
    pfam03066
    Location:18119
    Nucleoplasmin; Nucleoplasmin/nucleophosmin domain

RNA

  1. NR_182112.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC091171

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    22024134..22036897
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544363.3XP_011542665.1  nucleoplasmin-2 isoform X1

    UniProtKB/Swiss-Prot
    Q86SE8
    Related
    ENSP00000429413.1, ENST00000521157.5
    Conserved Domains (1) summary
    pfam03066
    Location:18119
    Nucleoplasmin; Nucleoplasmin/nucleophosmin domain
  2. XM_047421220.1XP_047277176.1  nucleoplasmin-2 isoform X1

    UniProtKB/Swiss-Prot
    Q6NVH6
    Related
    ENSP00000481077.1, ENST00000621538.4
  3. XM_047421221.1XP_047277177.1  nucleoplasmin-2 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    22298091..22310854
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)