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Aliases for NSUN5 Gene

Aliases for NSUN5 Gene

  • NOP2/Sun RNA Methyltransferase Family Member 5 2 3 5
  • Williams-Beuren Syndrome Chromosomal Region 20A Protein 3 4
  • Williams Beuren Syndrome Chromosome Region 20A 2 3
  • NOL1/NOP2/Sun Domain Family Member 5 3 4
  • NOP2/Sun Domain Family, Member 5 2 3
  • NOL1-Related Protein 3 4
  • WBSCR20A 3 4
  • WBSCR20 3 4
  • NSUN5A 3 4
  • NOL1R 3 4
  • Williams-Beuren Syndrome Critical Region Protein 20 Copy A 3
  • NOL1/NOP2/Sun Domain Family, Member 5 2
  • NOP2/Sun Domain Family, Member 5A 3
  • Putative Methyltransferase NSUN5 3
  • NOP2/Sun Domain Family 2
  • P120(NOL1) 3
  • EC 2.1.1.- 4
  • Member 5A 2
  • P120 3
  • NOL1 3

External Ids for NSUN5 Gene

Previous HGNC Symbols for NSUN5 Gene

  • WBSCR20
  • WBSCR20A

Previous GeneCards Identifiers for NSUN5 Gene

  • GC07M072162
  • GC07M072355
  • GC07M072716
  • GC07M068598

Summaries for NSUN5 Gene

Entrez Gene Summary for NSUN5 Gene

  • This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

GeneCards Summary for NSUN5 Gene

NSUN5 (NOP2/Sun RNA Methyltransferase Family Member 5) is a Protein Coding gene. Diseases associated with NSUN5 include Williams-Beuren Syndrome and Ehrlichiosis. GO annotations related to this gene include poly(A) RNA binding and methyltransferase activity. An important paralog of this gene is NSUN7.

UniProtKB/Swiss-Prot for NSUN5 Gene

  • S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 3782 in 28S rRNA.

Gene Wiki entry for NSUN5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NSUN5 Gene

Genomics for NSUN5 Gene

Regulatory Elements for NSUN5 Gene

Enhancers for NSUN5 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NSUN5 on UCSC Golden Path with GeneCards custom track

Promoters for NSUN5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NSUN5 on UCSC Golden Path with GeneCards custom track

Genomic Location for NSUN5 Gene

73,302,516 bp from pter
73,308,867 bp from pter
6,352 bases
Minus strand

Genomic View for NSUN5 Gene

Genes around NSUN5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NSUN5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NSUN5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NSUN5 Gene

Proteins for NSUN5 Gene

  • Protein details for NSUN5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Probable 28S rRNA (cytosine-C(5))-methyltransferase
    Protein Accession:
    Secondary Accessions:
    • B3KX04
    • B4DP79
    • G3V0G9
    • Q6ZUI8
    • Q96HT9
    • Q9NW70

    Protein attributes for NSUN5 Gene

    429 amino acids
    Molecular mass:
    46692 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for NSUN5 Gene

    Alternative splice isoforms for NSUN5 Gene


neXtProt entry for NSUN5 Gene

Proteomics data for NSUN5 Gene at MOPED

Post-translational modifications for NSUN5 Gene

  • Ubiquitination at Lys 22, Lys 82, Lys 144, Lys 262, and Lys 435
  • Modification sites at PhosphoSitePlus

Other Protein References for NSUN5 Gene

No data available for DME Specific Peptides for NSUN5 Gene

Domains & Families for NSUN5 Gene

Gene Families for NSUN5 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family.
genes like me logo Genes that share domains with NSUN5: view

Function for NSUN5 Gene

Molecular function for NSUN5 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + cytosine(3782) in 28S rRNA = S-adenosyl-L-homocysteine + C(5)-methylcytosine(3782) in 28S rRNA.
UniProtKB/Swiss-Prot Function:
S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 3782 in 28S rRNA.

Enzyme Numbers (IUBMB) for NSUN5 Gene

genes like me logo Genes that share phenotypes with NSUN5: view

Animal Model Products

miRNA for NSUN5 Gene

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NSUN5 Gene

Localization for NSUN5 Gene

Subcellular locations from

Jensen Localization Image for NSUN5 Gene COMPARTMENTS Subcellular localization image for NSUN5 gene
Compartment Confidence
cytosol 3
nucleus 3
chloroplast 1
extracellular 1
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for NSUN5 Gene

Pathways & Interactions for NSUN5 Gene

SuperPathways for NSUN5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NSUN5 Gene


No data available for Pathways by source and SIGNOR curated interactions for NSUN5 Gene

Drugs & Compounds for NSUN5 Gene

(2) Drugs for NSUN5 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
S-Adenosylmethionine Approved Nutra 0
genes like me logo Genes that share compounds with NSUN5: view

Transcripts for NSUN5 Gene

Unigene Clusters for NSUN5 Gene

NOP2/Sun domain family, member 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NSUN5 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5 ^ 6
SP1: - - -
SP2: -
SP3: -
SP4: - - -
SP5: -

Relevant External Links for NSUN5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NSUN5 Gene

mRNA expression in normal human tissues for NSUN5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NSUN5 Gene

This gene is overexpressed in Lung (34.8) and Breast (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NSUN5 Gene

SOURCE GeneReport for Unigene cluster for NSUN5 Gene Hs.647060

mRNA Expression by UniProt/SwissProt for NSUN5 Gene

Tissue specificity: Ubiquitous. Detected in placenta, heart and skeletal muscle.
genes like me logo Genes that share expression patterns with NSUN5: view

Protein tissue co-expression partners for NSUN5 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for NSUN5 Gene

Orthologs for NSUN5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NSUN5 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia NSUN5 35
  • 84.57 (n)
  • 86.74 (a)
NSUN5 36
  • 82 (a)
(Canis familiaris)
Mammalia NSUN5 35
  • 85.98 (n)
  • 88.41 (a)
NSUN5 36
  • 82 (a)
(Mus musculus)
Mammalia Nsun5 35
  • 82.69 (n)
  • 85.13 (a)
Nsun5 16
Nsun5 36
  • 82 (a)
(Pan troglodytes)
Mammalia NSUN5 35
  • 95.32 (n)
  • 94.74 (a)
NSUN5 36
  • 93 (a)
(Rattus norvegicus)
Mammalia Nsun5 35
  • 82.74 (n)
  • 86.67 (a)
(Monodelphis domestica)
Mammalia NSUN5 36
  • 75 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 73 (a)
-- 36
  • 76 (a)
(Gallus gallus)
Aves NSUN5 35
  • 65.9 (n)
  • 63.16 (a)
NSUN5 36
  • 59 (a)
(Anolis carolinensis)
Reptilia NSUN5 36
  • 60 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia nsun5 35
  • 61.32 (n)
  • 62.72 (a)
(Danio rerio)
Actinopterygii nsun5 35
  • 59.04 (n)
  • 60.45 (a)
nsun5 36
  • 52 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG42358 36
  • 29 (a)
(Caenorhabditis elegans)
Secernentea CELE_Y53F4B.4 35
  • 46.62 (n)
  • 38.37 (a)
Y53F4B.4 36
  • 35 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL215W 35
  • 47.5 (n)
  • 39.44 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E08361g 35
  • 44.92 (n)
  • 37.78 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RCM1 35
  • 42.04 (n)
  • 34.42 (a)
-- 36
  • 28 (a)
RCM1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G26180 35
  • 49.3 (n)
  • 43.42 (a)
(Oryza sativa)
Liliopsida Os02g0217800 35
  • 49.56 (n)
  • 44.68 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00308 35
  • 48.92 (n)
  • 43.38 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC2C4.06c 35
  • 45.07 (n)
  • 40.14 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
Species with no ortholog for NSUN5:
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NSUN5 Gene

Gene Tree for NSUN5 (if available)
Gene Tree for NSUN5 (if available)

Paralogs for NSUN5 Gene

Paralogs for NSUN5 Gene

(2) SIMAP similar genes for NSUN5 Gene using alignment to 2 proteins: Pseudogenes for NSUN5 Gene

genes like me logo Genes that share paralogs with NSUN5: view

Variants for NSUN5 Gene

Sequence variations from dbSNP and Humsavar for NSUN5 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs34913552 - 73,305,051(-) TGGAC(C/T)CCTTG nc-transcript-variant, reference, missense
rs1044901 -- 73,303,650(-) ACCAC(A/G)CTCAG nc-transcript-variant, reference, synonymous-codon, utr-variant-3-prime
rs1044904 -- 73,303,658(-) CCCCC(A/G)AGACC nc-transcript-variant, reference, missense, utr-variant-3-prime
rs1044907 -- 73,303,659(-) TCCCC(C/T)AAGAC nc-transcript-variant, reference, synonymous-codon, utr-variant-3-prime
rs1044909 -- 73,303,665(-) CGGGC(C/T)TCCCC nc-transcript-variant, reference, synonymous-codon, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for NSUN5 Gene

Variant ID Type Subtype PubMed ID
dgv2095e1 CNV Complex 17122850
nsv520573 CNV Gain+Loss 19592680
esv34349 CNV Gain 17911159
dgv2099e1 CNV Complex 17122850
nsv888362 CNV Gain 21882294
esv2734660 CNV Deletion 23290073
nsv831027 CNV Loss 17160897
dgv7324n71 CNV Gain 21882294

Variation tolerance for NSUN5 Gene

Residual Variation Intolerance Score: 65% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.38; 54.08% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for NSUN5 Gene

Disorders for NSUN5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NSUN5 Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger syndrome
  • human ehrlichiosis
- elite association - COSMIC cancer census association via MalaCards
Search NSUN5 in MalaCards View complete list of genes associated with diseases


  • Note=NSUN5 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.

Relevant External Links for NSUN5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with NSUN5: view

No data available for Genatlas for NSUN5 Gene

Publications for NSUN5 Gene

  1. Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome. (PMID: 11978965) Doll A. … Grzeschik K.-H. (Cytogenet. Cell Genet. 2001) 2 3 4 23 67
  2. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PMID: 12073013) Merla G. … Reymond A. (Hum. Genet. 2002) 2 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. Proteomic analysis of the epidermal growth factor receptor (EGFR) interactome and post-translational modifications associated with receptor endocytosis in response to EGF and stress. (PMID: 24797263) Tong J. … Moran M.F. (Mol. Cell Proteomics 2014) 3

Products for NSUN5 Gene

Sources for NSUN5 Gene