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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

Promoters for NSUN5P2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NSUN5P2 on UCSC Golden Path with GeneCards custom track

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

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 & 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 for NSUN5P2 Gene

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

No data available for Gene Ontology (GO) - Molecular Function , 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 and Gene Ontology (GO) - Cellular Components 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 I2D

Symbol External ID(s) Details
SH3GL2

Gene Ontology (GO) - Biological Process for NSUN5P2 Gene

None

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:

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

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, 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 expression patterns with NSUN5P2: view

Protein tissue co-expression partners for NSUN5P2 Gene

- Elite partner

In Situ Assay 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
VAR_029476 -
VAR_029477 -
VAR_029478 -
VAR_029479 -
rs236643 -- 72,954,034(-) gctgt(G/T)atgtg intron-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 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 67
  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
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. (PMID: 24952745) Arking D.E. … Newton-Cheh C. (Nat. Genet. 2014) 3
  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

Sources for NSUN5P2 Gene

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