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Aliases for NSUN5P2 Gene

Aliases for NSUN5P2 Gene

  • NOP2/Sun Domain Family, Member 5 Pseudogene 2 2 3
  • Williams Beuren Syndrome Chromosome Region 20C 2 3
  • NOP2/Sun Domain Family, Member 5C (Pseudogene) 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
  • NOL1/NOP2/Sun Domain Family Member 5C 4
  • NOP2/Sun Domain Family, Member 5C 2
  • 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 Domain 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

Genomic Location for NSUN5P2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NSUN5P2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NSUN5P2 Gene

No data available for Regulatory Elements 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

Proteomics data for NSUN5P2 Gene at MOPED

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 for NSUN5P2 Gene

Protein Domains for NSUN5P2 Gene

Suggested Antigen Peptide Sequences for NSUN5P2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q63ZY6

UniProtKB/Swiss-Prot:

NSN5C_HUMAN :
  • Q63ZY6
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:0008168 methyltransferase activity IEA --
genes like me logo Genes that share ontologies with NSUN5P2: view

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for NSUN5P2 Gene

Localization for NSUN5P2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NSUN5P2 Gene COMPARTMENTS Subcellular localization image for NSUN5P2 gene
Compartment Confidence
nucleus 3
cytosol 2
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for NSUN5P2 Gene

Pathways 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 I2D

Symbol External ID(s) Details
SH3GL2

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 for NSUN5P2 Gene

Compounds for NSUN5P2 Gene

(1) HMDB Compounds for NSUN5P2 Gene

Compound Synonyms Cas Number PubMed IDs
S-Adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
29908-03-0
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:

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 for NSUN5P2 Gene

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for NSUN5P2 Gene

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 expressions with NSUN5P2: view

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

Selected 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 MAF
rs371332 -- 72,952,268(+) gagcc(A/G)agatc nc-transcript-variant
rs112840934 -- 72,952,944(+) CATCT(G/T)TTAGA intron-variant
rs113619946 -- 72,952,991(+) GAAAG(A/G)TGAAT intron-variant
rs113935618 -- 72,952,623(+) GGTCA(A/G)CATGG intron-variant
rs199649390 -- 72,952,208(+) CAGCT(A/G)CTCAG nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
dgv2095e1 CNV Complex 17122850
nsv520573 CNV Gain+Loss 19592680
esv34349 CNV Gain 17911159
dgv2098e1 CNV Complex 17122850
nsv428171 CNV Gain 18775914
dgv2099e1 CNV Complex 17122850
nsv888362 CNV Gain 21882294
nsv469664 CNV Loss 16826518
nsv888363 CNV Gain+Loss 21882294
nsv888364 CNV Loss 21882294

Relevant External Links for NSUN5P2 Gene

HapMap Linkage Disequilibrium report
NSUN5P2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NSUN5P2 Gene

Disorders for NSUN5P2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for NSUN5P2 Gene including...

Search for NSUN5P2 Gene in 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.

(1) University of Copenhagen DISEASES for NSUN5P2 Gene

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

Publications for NSUN5P2 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
  2. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PMID: 12073013) Merla G. … Reymond A. (Hum. Genet. 2002) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  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
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for NSUN5P2 Gene

  • QIAGEN qRT-PCR Assays for microRNAs that regulate NSUN5P2
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for NSUN5P2
    • Block miRNA regulation of NSUN5P2 using miScript Target Protectors
    • antibodies-online peptides for NSUN5P2
    • antibodies-online antibodies for NSUN5P2
    • antibodies-online kits for NSUN5P2

    Sources for NSUN5P2 Gene

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