This locus represents a transcribed pseudogene of a nearby locus on chromosome 7, which encodes a putative methyltransferase. There is also a third closely related pseudogene locus in this region. There is extensive alternative splicing at this locus. [provided by RefSeq, Jul 2013] See more...

Aliases for NSUN5P2 Gene

Aliases for NSUN5P2 Gene

  • NSUN5 Pseudogene 2 2 3 5
  • Williams Beuren Syndrome Chromosome Region 20C 2 3
  • NOP2/Sun Domain Family, Member 5 Pseudogene 2 2 3
  • NOL1/NOP2/Sun Domain Family, Member 5C 2 3
  • WBSCR20B 3 4
  • WBSCR20C 3 4
  • NSUN5C 3 4
  • NOP2/Sun RNA Methyltransferase Family Member 5 Pseudogene 2 3
  • Williams-Beuren Syndrome Chromosomal Region 20C Protein 4
  • NOP2/Sun Domain Family, Member 5C (Pseudogene) 3
  • NOL1/NOP2/Sun Domain Family Member 5C 4
  • Putative Methyltransferase NSUN5C 4
  • EC 2.1.1.- 4
  • NOL1R2 3

External Ids for NSUN5P2 Gene

Previous HGNC Symbols for NSUN5P2 Gene

  • NSUN5C

Previous GeneCards Identifiers for NSUN5P2 Gene

  • GC07M072418
  • GC07M071751

Summaries for NSUN5P2 Gene

Entrez Gene Summary for NSUN5P2 Gene

  • This locus represents a transcribed pseudogene of a nearby locus on chromosome 7, which encodes a putative methyltransferase. There is also a third closely related pseudogene locus in this region. There is extensive alternative splicing at this locus. [provided by RefSeq, Jul 2013]

GeneCards Summary for NSUN5P2 Gene

NSUN5P2 (NSUN5 Pseudogene 2) is a Pseudogene. Diseases associated with NSUN5P2 include Williams-Beuren Syndrome. Gene Ontology (GO) annotations related to this gene include RNA binding and methyltransferase activity.

UniProtKB/Swiss-Prot Summary for NSUN5P2 Gene

  • May have S-adenosyl-L-methionine-dependent methyl-transferase activity.

Additional gene information for NSUN5P2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NSUN5P2 Gene

Genomics for NSUN5P2 Gene

GeneHancer (GH) Regulatory Elements for NSUN5P2 Gene

Promoters and enhancers for NSUN5P2 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
GH07J072954 Promoter 0.6 Ensembl 504.8 +0.3 289 2.6 E4F1 GABPB1 L3MBTL2 ESRRA NR2C1 MGA NSUN5P2 ENSG00000285886 lnc-TRIM74-1 piR-49431-001 TRIM74 RF00017-6292
GH07J073825 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 27.4 -875.1 -875147 8.4 ZNF217 POLR2G USF1 JUND TEAD4 ZFX ZNF639 ZIC2 REST POLR2A CLDN4 METTL27 POM121 STAG3L3 NSUN5P2 POM121B TBL2 NSUN5 TMEM270 BUD23
GH07J073890 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 33.6 -938.9 -938911 7.8 ZNF217 RBAK JUND FOS ZNF354C REST ZBTB11 ZNF623 ZNF510 RUNX1 BAZ1B STAG3L3 MIR590 GTF2IRD2 NSUN5P2 GTF2IRD2P1 METTL27 POM121B BUD23 FKBP6
GH07J073622 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE 24.5 -669.0 -669049 2.6 EP300 FOXK2 HNRNPK NRF1 USF1 POLR2G NCOR1 PHF8 ZBTB5 KDM6A MLXIPL POM121 STAG3L3 POM121B MIR590 NSUN5P2 GTF2IRD2P1 BCL7B METTL27 TBL2
GH07J073645 Enhancer 1.1 FANTOM5 ENCODE 28.4 -692.1 -692122 3.7 POLR2G NCOR1 PHF8 CTCF ZIC2 ZBTB26 HINFP ATF2 MXI1 RBM25 NSUN5P2 STAG3L3 POM121 GTF2IRD2P1 METTL27 MIR590 BAZ1B VPS37D BUD23 DNAJC30
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NSUN5P2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for NSUN5P2 Gene

Genomic Locations for NSUN5P2 Gene
chr7:72,947,581-72,954,790
(GRCh38/hg38)
Size:
7,210 bases
Orientation:
Minus strand
chr7:72,418,120-72,425,329
(GRCh37/hg19)
Size:
7,210 bases
Orientation:
Minus strand

Genomic View for NSUN5P2 Gene

Genes around NSUN5P2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NSUN5P2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NSUN5P2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NSUN5P2 Gene

Proteins for NSUN5P2 Gene

  • Protein details for NSUN5P2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q63ZY6-NSN5C_HUMAN
    Recommended name:
    Putative methyltransferase NSUN5C
    Protein Accession:
    Q63ZY6
    Secondary Accessions:
    • A8K7U2
    • Q3KQU7
    • Q658S2
    • Q6NZ66
    • Q6PHS1
    • Q8N727
    • Q9HAH4

    Protein attributes for NSUN5P2 Gene

    Size:
    315 amino acids
    Molecular mass:
    34347 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI06050.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for NSUN5P2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NSUN5P2 Gene

Post-translational modifications for NSUN5P2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NSUN5P2 Gene

Domains & Families for NSUN5P2 Gene

Protein Domains for NSUN5P2 Gene

Suggested Antigen Peptide Sequences for NSUN5P2 Gene

GenScript: Design optimal peptide antigens:
  • Williams-Beuren syndrome chromosomal region 20C protein (NSN5C_HUMAN)
  • NSUN5C protein (Q3KNT8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q63ZY6

UniProtKB/Swiss-Prot:

NSN5C_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 NSUN5P2: view

No data available for Gene Families for NSUN5P2 Gene

Function for NSUN5P2 Gene

Molecular function for NSUN5P2 Gene

UniProtKB/Swiss-Prot Function:
May have S-adenosyl-L-methionine-dependent methyl-transferase activity.

Enzyme Numbers (IUBMB) for NSUN5P2 Gene

Phenotypes From GWAS Catalog for NSUN5P2 Gene

Gene Ontology (GO) - Molecular Function for NSUN5P2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0008168 methyltransferase activity IEA --
genes like me logo Genes that share ontologies with NSUN5P2: view
genes like me logo Genes that share phenotypes with NSUN5P2: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NSUN5P2 Gene

Localization for NSUN5P2 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for NSUN5P2 Gene

Pathways & Interactions for NSUN5P2 Gene

PathCards logo

SuperPathways for NSUN5P2 Gene

No Data Available

Interacting Proteins for NSUN5P2 Gene

Selected Interacting proteins: Q63ZY6-NSN5C_HUMAN for NSUN5P2 Gene via IID

;

Gene Ontology (GO) - Biological Process for NSUN5P2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with NSUN5P2: view

No data available for Pathways by source and SIGNOR curated interactions for NSUN5P2 Gene

Drugs & Compounds for NSUN5P2 Gene

(1) Additional Compounds for NSUN5P2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3
genes like me logo Genes that share compounds with NSUN5P2: view

Transcripts for NSUN5P2 Gene

mRNA/cDNA for NSUN5P2 Gene

3 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NSUN5P2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d · 3e ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ·
SP1: - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - - -
SP7: - - - - -
SP8: - - - - - - - - - - -
SP9: - - - - - - - - - - - - -
SP10: - - - - - - - - - - - - - -
SP11: - - - - -
SP12:
SP13: - - -
SP14: - - - - - - - -
SP15:
SP16:
SP17:

ExUns: 9c · 9d ^ 10a · 10b · 10c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17: -

Relevant External Links for NSUN5P2 Gene

GeneLoc Exon Structure for
NSUN5P2

Expression for NSUN5P2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NSUN5P2 Gene

Protein differential expression in normal tissues from HIPED for NSUN5P2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NSUN5P2 Gene



Protein tissue co-expression partners for NSUN5P2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NSUN5P2

SOURCE GeneReport for Unigene cluster for NSUN5P2 Gene:

Hs.510927

mRNA Expression by UniProt/SwissProt for NSUN5P2 Gene:

Q63ZY6-NSN5C_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with NSUN5P2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for NSUN5P2 Gene

Orthologs for NSUN5P2 Gene

Evolution for NSUN5P2 Gene

ENSEMBL:
Gene Tree for NSUN5P2 (if available)
TreeFam:
Gene Tree for NSUN5P2 (if available)

No data available for Orthologs for NSUN5P2 Gene

Paralogs for NSUN5P2 Gene

(2) SIMAP similar genes for NSUN5P2 Gene using alignment to 1 proteins:

  • NSN5C_HUMAN
genes like me logo Genes that share paralogs with NSUN5P2: view

No data available for Paralogs for NSUN5P2 Gene

Variants for NSUN5P2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NSUN5P2 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs17145838 - p.Cys272Arg
rs395127 - p.Ala90Val
rs400282 - p.Trp47Ser
VAR_029479 - p.Lys303Arg

Structural Variations from Database of Genomic Variants (DGV) for NSUN5P2 Gene

Variant ID Type Subtype PubMed ID
dgv6462n100 CNV gain 25217958
dgv6464n100 CNV gain 25217958
esv2759537 CNV gain+loss 17122850
esv2764061 CNV gain+loss 21179565
esv34349 CNV gain 17911159
esv3571921 CNV loss 25503493
esv3613677 CNV gain 21293372
esv3613678 CNV loss 21293372
nsv1018175 CNV gain 25217958
nsv1018460 CNV gain+loss 25217958
nsv1023115 CNV gain 25217958
nsv1029162 CNV loss 25217958
nsv1030447 CNV loss 25217958
nsv1161563 CNV deletion 26073780
nsv428171 CNV gain 18775914
nsv469664 CNV loss 16826518
nsv520573 CNV gain+loss 19592680
nsv607478 CNV loss 21841781
nsv950544 CNV deletion 24416366
nsv981523 CNV duplication 23825009

Additional Variant Information for NSUN5P2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NSUN5P2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Additional dbSNP identifiers (rs#s) and Variation tolerance for NSUN5P2 Gene

Disorders for NSUN5P2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NSUN5P2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • wbs
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NSN5C_HUMAN
  • Note=NSUN5C 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.

Additional Disease Information for NSUN5P2

genes like me logo Genes that share disorders with NSUN5P2: view

No data available for Genatlas for NSUN5P2 Gene

Publications for NSUN5P2 Gene

  1. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PMID: 12073013) Merla G … Reymond A (Human genetics 2002) 2 3 4 54
  2. Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome. (PMID: 11978965) Doll A … Grzeschik KH (Cytogenetics and cell genetics 2001) 2 3 4 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 54

Products for NSUN5P2 Gene

Sources for NSUN5P2 Gene