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Aliases for NOP2 Gene

Aliases for NOP2 Gene

  • NOP2 Nucleolar Protein 2 3 5
  • Proliferation-Associated Nucleolar Protein P120 3 4
  • Proliferating-Cell Nucleolar Antigen P120 3 4
  • Nucleolar Protein 1, 120kDa 2 3
  • Nucleolar Protein 2 Homolog 3 4
  • NSUN1 3 4
  • NOL1 3 4
  • Probable 28S RRNA (Cytosine(4447)-C(5))-Methyltransferase 3
  • Putative Ribosomal RNA Methyltransferase NOP2 3
  • NOP2 Nucleolar Protein Homolog (Yeast) 2
  • NOL1/NOP2/Sun Domain Family, Member 1 3
  • Nucleolar Protein 2 Homolog (Yeast) 2
  • NOP2/Sun Domain Family, Member 1 2
  • NOP2 Nucleolar Protein Homolog 3
  • Nucleolar Protein 1 (120kD) 2
  • Nucleolar Protein 1 4
  • EC 2.1.1.- 4
  • EC 2.1.1 56
  • NOP120 3
  • P120 3

External Ids for NOP2 Gene

Previous HGNC Symbols for NOP2 Gene

  • NOL1

Previous GeneCards Identifiers for NOP2 Gene

  • GC12M006537
  • GC12M006666
  • GC12M006525

Summaries for NOP2 Gene

GeneCards Summary for NOP2 Gene

NOP2 (NOP2 Nucleolar Protein) is a Protein Coding gene. Diseases associated with NOP2 include Kabuki Syndrome 1. Among its related pathways are Gene Expression and Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors. Gene Ontology (GO) annotations related to this gene include methyltransferase activity. An important paralog of this gene is NSUN6.

UniProtKB/Swiss-Prot for NOP2 Gene

  • Involved in ribosomal large subunit assembly (PubMed:24120868). S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 4447 in 28S rRNA (Probable). May play a role in the regulation of the cell cycle and the increased nucleolar activity that is associated with the cell proliferation (Probable).

Gene Wiki entry for NOP2 Gene

Additional gene information for NOP2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NOP2 Gene

Genomics for NOP2 Gene

GeneHancer (GH) Regulatory Elements for NOP2 Gene

Promoters and enhancers for NOP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I006567 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 565.9 +0.1 121 3.1 HNRNPUL1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B E2F8 ZNF143 NOP2 ZNF384 ENSG00000219410 CHD4 ENSG00000247853 SCARNA12 NCAPD2 ATN1 ENSG00000256967 P3H3
GH12I006570 Enhancer 0.7 ENCODE 550.8 -2.0 -1959 0.2 HDGF ELF3 CTCF KLF1 MXI1 SIN3A RAD21 ZNF48 ZNF366 POLR2A NOP2 ENSG00000247853 CHD4
GH12I006571 Enhancer 0.7 ENCODE 550.8 -1.8 -1769 0.2 HDGF ELF3 CTCF KLF1 MXI1 SAP130 SIN3A RAD21 ZNF48 ZNF366 NOP2 ENSG00000247853 CHD4
GH12I006602 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 44.8 -37.0 -37037 7.4 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CHD4 ZNF384 ENSG00000219410 ENSG00000247853 NOP2 NCAPD2 ING4 SPSB2 EMG1 SCARNA12
GH12I006530 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 45.2 +31.6 31595 12.8 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 GAPDH ENSG00000269968 ZNF384 ENSG00000219410 CHD4 ENSG00000247853 NCAPD2 NOP2 SPSB2 ENSG00000256967
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NOP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NOP2 gene promoter:

Genomic Locations for NOP2 Gene

Genomic Locations for NOP2 Gene
chr12:6,556,863-6,568,691
(GRCh38/hg38)
Size:
11,829 bases
Orientation:
Minus strand
chr12:6,666,029-6,677,857
(GRCh37/hg19)

Genomic View for NOP2 Gene

Genes around NOP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NOP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NOP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NOP2 Gene

Proteins for NOP2 Gene

  • Protein details for NOP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P46087-NOP2_HUMAN
    Recommended name:
    Probable 28S rRNA (cytosine(4447)-C(5))-methyltransferase
    Protein Accession:
    P46087
    Secondary Accessions:
    • A1A4Z3
    • B3KPD6
    • Q05BA7
    • Q0P5S5
    • Q3KQS4
    • Q58F30

    Protein attributes for NOP2 Gene

    Size:
    812 amino acids
    Molecular mass:
    89302 Da
    Quaternary structure:
    • Interacts with MCRS1 (PubMed:9654073). Interacts with WDR46 (PubMed:23848194). Interacts with RRP1B (PubMed:20926688).
    SequenceCaution:
    • Sequence=AAA36398.1; Type=Frameshift; Positions=780; Evidence={ECO:0000305}; Sequence=CAA39119.1; Type=Frameshift; Positions=780; Evidence={ECO:0000305};

    Alternative splice isoforms for NOP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NOP2 Gene

Selected DME Specific Peptides for NOP2 Gene

P46087:
  • CCAPGGKT
  • GGFDRVLLD
  • LLDAPCS

Post-translational modifications for NOP2 Gene

Domains & Families for NOP2 Gene

Gene Families for NOP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for NOP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P46087

UniProtKB/Swiss-Prot:

NOP2_HUMAN :
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.
genes like me logo Genes that share domains with NOP2: view

Function for NOP2 Gene

Molecular function for NOP2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + cytosine(4447) in 28S rRNA = S-adenosyl-L-homocysteine + C(5)-methylcytosine(4447) in 28S rRNA.
UniProtKB/Swiss-Prot Function:
Involved in ribosomal large subunit assembly (PubMed:24120868). S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 4447 in 28S rRNA (Probable). May play a role in the regulation of the cell cycle and the increased nucleolar activity that is associated with the cell proliferation (Probable).

Enzyme Numbers (IUBMB) for NOP2 Gene

Phenotypes From GWAS Catalog for NOP2 Gene

Gene Ontology (GO) - Molecular Function for NOP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA,HDA 22658674
GO:0005515 protein binding IPI 12080348
GO:0008168 methyltransferase activity IEA --
GO:0008757 S-adenosylmethionine-dependent methyltransferase activity IEA --
GO:0009383 rRNA (cytosine-C5-)-methyltransferase activity IBA --
genes like me logo Genes that share ontologies with NOP2: view
genes like me logo Genes that share phenotypes with NOP2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NOP2 Gene

Localization for NOP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NOP2 Gene

Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NOP2 gene
Compartment Confidence
nucleus 5
cytosol 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NOP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA,IEA --
genes like me logo Genes that share ontologies with NOP2: view

Pathways & Interactions for NOP2 Gene

genes like me logo Genes that share pathways with NOP2: view

Gene Ontology (GO) - Biological Process for NOP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000027 ribosomal large subunit assembly IMP 24120868
GO:0000470 maturation of LSU-rRNA IBA --
GO:0006357 regulation of transcription by RNA polymerase II TAS --
GO:0006364 rRNA processing IEA --
GO:0008284 positive regulation of cell proliferation IDA 1394192
genes like me logo Genes that share ontologies with NOP2: view

No data available for SIGNOR curated interactions for NOP2 Gene

Drugs & Compounds for NOP2 Gene

(3) Drugs for NOP2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for NOP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NOP2: view

Transcripts for NOP2 Gene

Unigene Clusters for NOP2 Gene

NOP2 nucleolar protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NOP2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10 ^
SP1: - - - - -
SP2: - - - - - - -
SP3: - - - - - -
SP4: - - - -
SP5: - - - - - -
SP6:
SP7: - - - - - - -
SP8: - - -
SP9:
SP10: - - -
SP11: - -
SP12: - - - - - - - - - - - - - - - - - -
SP13: - -
SP14:
SP15:
SP16: - -

ExUns: 11a · 11b ^ 12a · 12b ^ 13a · 13b · 13c ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b
SP1: -
SP2: -
SP3: -
SP4: -
SP5:
SP6: - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: - - - - - - - - - -
SP13:
SP14:
SP15:
SP16:

Relevant External Links for NOP2 Gene

GeneLoc Exon Structure for
NOP2
ECgene alternative splicing isoforms for
NOP2

Expression for NOP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NOP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NOP2 Gene

This gene is overexpressed in Lung (32.3) and CD8 Tcells (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NOP2 Gene



Protein tissue co-expression partners for NOP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NOP2 Gene:

NOP2

SOURCE GeneReport for Unigene cluster for NOP2 Gene:

Hs.534334

Evidence on tissue expression from TISSUES for NOP2 Gene

  • Intestine(4.4)
  • Eye(4.1)
  • Nervous system(3.2)
genes like me logo Genes that share expression patterns with NOP2: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NOP2 Gene

Orthologs for NOP2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NOP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NOP2 34 33
  • 99.43 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 93 (a)
OneToMany
-- 34
  • 67 (a)
OneToMany
dog
(Canis familiaris)
Mammalia NOP2 33 34
  • 86.02 (n)
cow
(Bos Taurus)
Mammalia NOP2 33 34
  • 84.72 (n)
rat
(Rattus norvegicus)
Mammalia Nop2 33
  • 81.7 (n)
mouse
(Mus musculus)
Mammalia Nop2 33 16 34
  • 81.24 (n)
oppossum
(Monodelphis domestica)
Mammalia NOP2 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves NOP2 33 34
  • 65.98 (n)
lizard
(Anolis carolinensis)
Reptilia NOP2 34
  • 63 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii nop2 33 34
  • 62.01 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8545 34
  • 41 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea nol-1 34
  • 43 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NOP2 34 36
  • 47 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 49 (a)
OneToMany
CSA.8854 34
  • 49 (a)
OneToMany
Species where no ortholog for NOP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for NOP2 Gene

ENSEMBL:
Gene Tree for NOP2 (if available)
TreeFam:
Gene Tree for NOP2 (if available)

Paralogs for NOP2 Gene

Paralogs for NOP2 Gene

genes like me logo Genes that share paralogs with NOP2: view

Variants for NOP2 Gene

Sequence variations from dbSNP and Humsavar for NOP2 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000279459 -- 6,569,555(-) C/A upstream_transcript_variant
rs1000398238 -- 6,556,825(-) AAA/AAAA downstream_transcript_variant
rs1000864902 -- 6,564,513(-) C/T intron_variant
rs1000897756 -- 6,558,060(-) G/C coding_sequence_variant, intron_variant, missense_variant
rs1001029468 -- 6,564,318(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NOP2 Gene

Variant ID Type Subtype PubMed ID
nsv509452 CNV insertion 20534489
nsv826210 CNV gain 20364138

Variation tolerance for NOP2 Gene

Residual Variation Intolerance Score: 72.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.16; 61.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NOP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NOP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NOP2 Gene

Disorders for NOP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NOP2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
kabuki syndrome 1
  • kms
- elite association - COSMIC cancer census association via MalaCards
Search NOP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NOP2

genes like me logo Genes that share disorders with NOP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NOP2 Gene

Publications for NOP2 Gene

  1. A region of antisense RNA from human p120 cDNA with high homology to mouse p120 cDNA inhibits NIH 3T3 proliferation. (PMID: 1394192) Valdez BC … Busch H (Cancer research 1992) 3 4 22 58
  2. Genomic structure of the human proliferating cell nucleolar protein P120. (PMID: 2372471) Larson RG … Busch H (Cancer communications 1990) 3 4 22 58
  3. The 5S RNP couples p53 homeostasis to ribosome biogenesis and nucleolar stress. (PMID: 24120868) Sloan KE … Watkins NJ (Cell reports 2013) 3 4 58
  4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 58
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58

Products for NOP2 Gene

Sources for NOP2 Gene

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