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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. Gene Ontology (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.

Additional gene information for NSUN5P2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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 0.8 Ensembl 654.9 +0.1 89 1.4 L3MBTL2 GABPB1 NR2C1 E4F1 MGA NSUN5P2 GC07P072947 TRIM74
GH07J072827 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 52.8 +125.4 125384 4.4 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 TYW1B SBDSP1 PIR36920 STAG3L3 POM121 POM121B NSUN5P2 TBL2 FKBP6 PMS2P7
GH07J073890 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 60.8 -935.6 -935611 0.8 ZBTB21 ZNF140 ZNF697 ZNF664 ZNF791 ZNF213 RBAK ZNF433 ZNF202 ZNF680 NSUN5P2 STAG3L3 METTL27 BAZ1B POM121B GTF2IRD2 MIR590 LOC101926943 GTF2IRD2P1 TBL2
GH07J073715 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 29.3 -762.8 -762764 4.9 CLOCK SMAD1 FOXA2 ARNT ZFP64 ARID4B NEUROD1 SIN3A FEZF1 ZNF766 STX1A POM121 POM121B NSUN5P2 MIR590 STAG3L3 NSUN5 TBL2 PMS2P7 RFC2
GH07J073736 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 23 -785.9 -785935 7.8 CLOCK ZFP64 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 ZNF610 GLIS1 ABHD11 GC07P073741 GC07P073742 METTL27 STAG3L3 POM121B ABHD11-AS1 POM121 NSUN5P2 MIR590
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

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=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

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:0008173 RNA methyltransferase activity IBA --
GO:0008757 S-adenosylmethionine-dependent methyltransferase activity IBA --
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

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

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 , Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) 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:0001510 RNA methylation IBA --
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) 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 :
(11) Additional mRNA sequences :
(203) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NSUN5P2 Gene

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

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
ECgene alternative splicing isoforms for
NSUN5P2

Expression for NSUN5P2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

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 from dbSNP and Humsavar for NSUN5P2 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1044501 -- 72,947,839(-) T/C/G downstream_transcript_variant
rs1044509 -- 72,947,868(-) T/C downstream_transcript_variant
rs1044877 -- 72,948,675(-) T/C non_coding_transcript_variant
rs1044881 -- 72,948,711(-) C/T non_coding_transcript_variant
rs1044884 -- 72,948,715(-) A/G non_coding_transcript_variant

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

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 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 58
  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 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. 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 58
  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 58

Products for NSUN5P2 Gene

Sources for NSUN5P2 Gene

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