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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 58
  • 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 rRNA processing in the nucleus and cytosol and Gene Expression. GO annotations related to this gene include poly(A) RNA binding and 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

Regulatory Elements for NOP2 Gene

Enhancers for NOP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H006602 1.7 FANTOM5 ENCODE dbSUPER 35.9 -37.0 -37037 7 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF384 ENSG00000219410 ENSG00000247853 CHD4 NOP2 ING4 NCAPD2 SPSB2 EMG1 SCARNA12
GH12H006530 1.4 ENCODE dbSUPER 35.5 +31.6 31596 12 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC PPARGC1A ZNF384 CHD4 ENSG00000219410 NCAPD2 ENSG00000247853 NOP2 SPSB2 MRPL51 ENSG00000256967 ING4
GH12H006940 1.9 FANTOM5 ENCODE dbSUPER 25.3 -385.0 -384968 25 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC ZNF384 CHD4 ENSG00000219410 ENSG00000247853 SPSB2 NCAPD2 SCARNA12 ING4 ENSG00000256967 EMG1
GH12H006459 1.4 Ensembl ENCODE dbSUPER 24.8 +106.5 106548 6 HDGF PKNOX1 ZFP64 BMI1 ZNF143 ZNF207 ATF7 ETV6 RUNX3 CREM ZNF384 ENSG00000219410 CHD4 ENSG00000247853 TAPBPL MRPL51 VAMP1 P3H3 NOP2 SCARNA12
GH12H006722 1.2 ENCODE 25.8 -155.4 -155362 2 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF384 CHD4 ENSG00000219410 NOP2 ATN1 ENSG00000247853 NCAPD2 GNB3 SPSB2 CD4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NOP2 on UCSC Golden Path with GeneCards custom track

Promoters for NOP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000048321 491 1601 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 DEK SP3 SP5 ZC3H11A

Genomic Location for NOP2 Gene

Chromosome:
12
Start:
6,556,863 bp from pter
End:
6,568,691 bp from pter
Size:
11,829 bases
Orientation:
Minus strand

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:
    • Interaction with MCRS1 (PubMed:9654073). Interacts with WDR46 (PubMed:23848194).
    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 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

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 16791210
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 from RNA polymerase II promoter 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

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 33 34
  • 99.43 (n)
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 Sequence Context AA Info Type
rs1000279459 -- 6,569,555(+) GGAAA(A/C)AACGG upstream-variant-2KB
rs1000398238 -- 6,556,824(+) CCCTT(-/A)AAAGC intron-variant, downstream-variant-500B, upstream-variant-2KB
rs1000864902 -- 6,564,513(+) ACCTC(C/T)GCCTC intron-variant
rs1000897756 -- 6,558,060(+) CGCTT(C/G)AACCT intron-variant, upstream-variant-2KB, reference, missense
rs1001029468 -- 6,564,318(+) GGTTC(A/G)TTACA 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)

Relevant External Links for NOP2 Gene

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

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
  • kabuki syndrome
- elite association - COSMIC cancer census association via MalaCards
Search NOP2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NOP2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  2. Genomic structure of the human proliferating cell nucleolar protein P120. (PMID: 2372471) Larson RG … Busch H (Cancer communications 1990) 3 4 22 60
  3. The 5S RNP couples p53 homeostasis to ribosome biogenesis and nucleolar stress. (PMID: 24120868) Sloan KE … Watkins NJ (Cell reports 2013) 3 4 60
  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 60
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 60

Products for NOP2 Gene

Sources for NOP2 Gene

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