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Aliases for NSUN5P2 Gene

Aliases for NSUN5P2 Gene

  • NOP2/Sun RNA Methyltransferase Family Member 5 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
  • Williams-Beuren Syndrome Chromosomal Region 20C Protein 4
  • NOP2/Sun Domain Family, Member 5C (Pseudogene) 3
  • NOL1/NOP2/Sun Domain Family Member 5C 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 (NOP2/Sun RNA Methyltransferase Family Member 5 Pseudogene 2) is a Pseudogene. Diseases associated with NSUN5P2 include Williams-Beuren Syndrome. GO annotations related to this gene include RNA binding and methyltransferase activity.

UniProtKB/Swiss-Prot for NSUN5P2 Gene

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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NSUN5P2 Gene

Genomics for NSUN5P2 Gene

Regulatory Elements for NSUN5P2 Gene

Enhancers for NSUN5P2 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
GH07F073524 1.4 FANTOM5 Ensembl ENCODE 4.3 -571.6 -571611 3.6 BCOR TBP ZMYM3 ZNF121 ZNF316 POLR2A EED TRIM24 NR2F6 SMARCA5 TBL2 MLXIPL BCL7B NSUN5P2 BAZ1B GC07P073525 GC07P073532
GH07F072924 1.1 ENCODE 5.1 +29.5 29478 2.5 ATF1 ARNT CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF48 BRCA1 ZNF207 GTF2IRD2P1 NSUN5P2 ENSG00000272843 GC07P072947
GH07F073879 1 Ensembl ENCODE 4.8 -925.8 -925836 2.7 BCOR TEAD1 CEBPB MIER2 ZNF644 RAD21 NR2F2 RARA TEAD3 YY1 LIMK1 ENSG00000232415 NSUN5P2 ABHD11 GC07M073860 GC07M073911
GH07F073435 1.1 Ensembl ENCODE 4.2 -482.6 -482561 4.7 CTCF TFAP4 ZIC2 RAD21 RFX5 HIC1 ZNF121 ZFHX2 GLIS2 POLR2A ENSG00000202035 RNU6-1198P RNU6-1080P MLXIPL BCL7B POM121B NSUN5P2 FZD9 GC07P073471
GH07F072721 0.4 ENCODE 4.8 +232.2 232159 1.5 HLF BCL6 TYW1B NSUN5P2 ENSG00000270694 MIR4650-2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NSUN5P2 on UCSC Golden Path with GeneCards custom track

Promoters for NSUN5P2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001892790 90 1801 PKNOX1 L3MBTL2 MGA

Genomic Location for NSUN5P2 Gene

Chromosome:
7
Start:
72,947,581 bp from pter
End:
72,954,790 bp from pter
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=Translation N-terminally shortened.; 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

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

Gene Ontology (GO) - Molecular Function for NSUN5P2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0008173 RNA methyltransferase activity IBA --
GO:0008757 S-adenosylmethionine-dependent methyltransferase activity IBA --
genes like me logo Genes that share ontologies with NSUN5P2: view

Phenotypes for NSUN5P2 Gene

GenomeRNAi human phenotypes for NSUN5P2:
genes like me logo Genes that share phenotypes with NSUN5P2: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Localization for NSUN5P2 Gene

Gene Ontology (GO) - Cellular Components for NSUN5P2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IBA --
genes like me logo Genes that share ontologies with NSUN5P2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from COMPARTMENTS for NSUN5P2 Gene

Pathways & Interactions for NSUN5P2 Gene

SuperPathways for NSUN5P2 Gene

No Data Available

Interacting Proteins for NSUN5P2 Gene

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

Symbol External ID(s) Details
CD247
SH3GL2

Gene Ontology (GO) - Biological Process for NSUN5P2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070475 rRNA base methylation IBA --
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) Drugs for NSUN5P2 Gene - From: HMDB

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 NSUN5P2: view

Transcripts for NSUN5P2 Gene

Unigene Clusters for NSUN5P2 Gene

NOP2/Sun domain family, member 5 pseudogene 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
ECgene alternative splicing isoforms 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

NURSA nuclear receptor signaling pathways regulating expression of NSUN5P2 Gene:

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

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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:

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 from dbSNP and Humsavar for NSUN5P2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1044509 -- 72,947,868(+) GAGGG(C/T)GAGTG intron-variant, utr-variant-3-prime
rs1044877 -- 72,948,675(-) TCGAG(A/G)TGCCG nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs1044881 -- 72,948,711(-) TTAGC(A/G)GTGGC nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs1044884 -- 72,948,715(-) ACGCT(C/T)AGCGG nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs1044944 -- 72,949,407(-) TGTGA(A/G)CTGGC nc-transcript-variant, utr-variant-3-prime

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

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

Relevant External Links for NSUN5P2 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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
  • fanconi schlesinger syndrome
- 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.

Relevant External Links for NSUN5P2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Hum. Genet. 2002) 2 3 4 64
  2. 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 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp J.J. … Guthrie C. (Nat. Struct. Mol. Biol. 2015) 3 64

Products for NSUN5P2 Gene

Sources for NSUN5P2 Gene

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