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Aliases for SNURF Gene

Aliases for SNURF Gene

  • SNRPN Upstream Reading Frame 2 3 5

External Ids for SNURF Gene

Previous GeneCards Identifiers for SNURF Gene

  • GC15U990062
  • GC15P022616
  • GC15P022619
  • GC15P022751
  • GC15P025101
  • GC15P003336
  • GC15P025200

Summaries for SNURF Gene

Entrez Gene Summary for SNURF Gene

  • This gene is located within the Prader-Willi Syndrome critical region on chromosome 15. Transcripts produced from this gene initiate at an imprinting center and are paternally-imprinted. These transcripts may be bicistronic and also encode SNRPN (small nuclear ribonucleoprotein polypeptide N) from a downstream open reading frame. The small protein represented by this gene is encoded by an evolutionarily-conserved upstream open reading frame and is localized to the nucleus. Extensive alternative splicing and promoter usage occurs in this region and the full-length nature of some of these transcripts has not been determined. Alterations in the imprinting center are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome. [provided by RefSeq, Mar 2017]

GeneCards Summary for SNURF Gene

SNURF (SNRPN Upstream Reading Frame) is a Protein Coding gene. Diseases associated with SNURF include Prader-Willi Syndrome and Angelman Syndrome. Among its related pathways are Coregulation of Androgen receptor activity and Gastric Cancer Network 2. An important paralog of this gene is ENSG00000214265.

Gene Wiki entry for SNURF Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNURF Gene

Genomics for SNURF Gene

Regulatory Elements for SNURF Gene

Enhancers for SNURF 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
GH15G024897 0.6 ENCODE 11.7 -55.8 -55817 2.8 POLR2A BCL11A SMARCA4 NFIB POU5F1 ETS1 SNURF ENSG00000214265 SNRPN SNORD109A SNORD116-1 SNORD116-2 SNORD116-3 ENSG00000261069 RPL5P1 PIR42622
GH15G024877 1.5 FANTOM5 Ensembl ENCODE 3.8 -76.7 -76652 1.1 ELF3 TBP FOXA2 ARID4B DMAP1 RAD21 ZNF48 RARA THAP11 PAF1 SNRPN SNURF NPAP1 PIR42622 RPL5P1
GH15G024772 1.5 FANTOM5 Ensembl ENCODE 3.2 -182.0 -181977 1.7 ATF1 ARID4B ZBTB40 ZNF48 YY1 ETS1 ELK1 CREM THAP11 HCFC1 SNRPN SNURF PIR54184 PIR61722
GH15G025350 0.4 FANTOM5 3.9 +395.8 395757 0.8 SNURF SNRPN UBE3A ENSG00000261529 GC15P025788
GH15G025389 0.3 FANTOM5 4.5 +434.8 434819 0.2 UBE3A SNURF SNRPN GC15P025788 ENSG00000261529
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SNURF on UCSC Golden Path with GeneCards custom track

Promoters for SNURF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000074072 1078 2799 TBP NFIB ARID4B DMAP1 ZNF48 YY1 FOS CREM THAP11 PAF1

Genomic Location for SNURF Gene

Chromosome:
15
Start:
24,954,923 bp from pter
End:
24,978,582 bp from pter
Size:
23,660 bases
Orientation:
Plus strand

Genomic View for SNURF Gene

Genes around SNURF on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SNURF Gene

Proteins for SNURF Gene

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

    Protein Symbol:
    Q9Y675-SNURF_HUMAN
    Recommended name:
    SNRPN upstream reading frame protein
    Protein Accession:
    Q9Y675
    Secondary Accessions:
    • A6NCW2

    Protein attributes for SNURF Gene

    Size:
    71 amino acids
    Molecular mass:
    8412 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Encoded on a bicistronic transcript that code for two proteins, SNRPN and SNURF. In addition to the primary 1.6-kb bicistronic SNURF-SNRPN transcript, SNURF-only transcript is also detected.

neXtProt entry for SNURF Gene

Post-translational modifications for SNURF Gene

  • Ubiquitination at Lys26
  • Modification sites at PhosphoSitePlus

Other Protein References for SNURF Gene

No data available for DME Specific Peptides for SNURF Gene

Domains & Families for SNURF Gene

Protein Domains for SNURF Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SNURF Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y675

UniProtKB/Swiss-Prot:

SNURF_HUMAN :
  • Belongs to the SNURF family.
Family:
  • Belongs to the SNURF family.
genes like me logo Genes that share domains with SNURF: view

No data available for Gene Families for SNURF Gene

Function for SNURF Gene

Molecular function for SNURF Gene

GENATLAS Biochemistry:
SNRPN upstream reading frame,expressed along and conjointly with SNRPN in a bicistronic transcript,missing in Prader Willi syndrome,paternally expressed,maternally imprinted,associated with a nuclear matrix attachment (MAR) sequence

Gene Ontology (GO) - Molecular Function for SNURF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with SNURF: view
genes like me logo Genes that share phenotypes with SNURF: view

Animal Model Products

CRISPR Products

miRNA for SNURF Gene

miRTarBase miRNAs that target SNURF

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SNURF

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SNURF Gene

Localization for SNURF Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNURF Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SNURF gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for SNURF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 10318933
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with SNURF: view

Pathways & Interactions for SNURF Gene

genes like me logo Genes that share pathways with SNURF: view

Pathways by source for SNURF Gene

Interacting Proteins for SNURF Gene

Selected Interacting proteins: Q9Y675-SNURF_HUMAN for SNURF Gene via IID

Gene Ontology (GO) - Biological Process for SNURF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with SNURF: view

No data available for SIGNOR curated interactions for SNURF Gene

Drugs & Compounds for SNURF Gene

No Compound Related Data Available

Transcripts for SNURF Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SNURF

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

No ASD Table

Relevant External Links for SNURF Gene

GeneLoc Exon Structure for
SNURF
ECgene alternative splicing isoforms for
SNURF

Expression for SNURF Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SNURF Gene

This gene is overexpressed in Muscle - Skeletal (x4.4).

NURSA nuclear receptor signaling pathways regulating expression of SNURF Gene:

SNURF

mRNA Expression by UniProt/SwissProt for SNURF Gene:

Q9Y675-SNURF_HUMAN
Tissue specificity: Expressed in heart, skeletal muscle and lymphoblasts (at protein level). Expressed in brain, pancreas, heart, liver, lung, kidney and skeletal muscle.

Evidence on tissue expression from TISSUES for SNURF Gene

  • Nervous system(2.6)
  • Heart(2.3)
  • Muscle(2.3)
  • Thyroid gland(2.3)
  • Adrenal gland(2)
  • Gall bladder(2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with SNURF: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SNURF Gene

Orthologs for SNURF Gene

This gene was present in the common ancestor of mammals.

Orthologs for SNURF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SNURF 35
  • 100 (a)
OneToMany
LOC100612044 34
  • 86.67 (n)
cow
(Bos Taurus)
Mammalia SNURF 34
  • 92.49 (n)
rat
(Rattus norvegicus)
Mammalia Snurf 34
  • 90.14 (n)
mouse
(Mus musculus)
Mammalia Snurf 34 16 35
  • 89.67 (n)
Species where no ortholog for SNURF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SNURF Gene

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

Paralogs for SNURF Gene

Paralogs for SNURF Gene

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

Pseudogenes.org Pseudogenes for SNURF Gene

genes like me logo Genes that share paralogs with SNURF: view

Variants for SNURF Gene

Sequence variations from dbSNP and Humsavar for SNURF Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs705 Likely benign 24,974,365(+) GAACC(C/T)GCGTC utr-variant-3-prime, utr-variant-5-prime
rs75184959 Likely benign 24,974,415(+) ATCAA(A/G)TTTTA utr-variant-3-prime, utr-variant-5-prime
rs112560608 Uncertain significance 24,974,466(+) GCTGT(A/G)TGATA intron-variant
rs142583293 Uncertain significance 24,967,952(+) GAGGC(A/G/T)TTCTC reference, missense, utr-variant-5-prime
rs190439178 Uncertain significance 24,974,344(+) CAGCT(G/T)GCATT utr-variant-3-prime, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv3581566 CNV loss 25503493
nsv1045067 CNV gain 25217958

Variation tolerance for SNURF Gene

Residual Variation Intolerance Score: 51% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.01; 0.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SNURF Gene

Human Gene Mutation Database (HGMD)
SNURF
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNURF

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

Disorders for SNURF Gene

MalaCards: The human disease database

(2) MalaCards diseases for SNURF Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
prader-willi syndrome
  • prader willi syndrome
angelman syndrome
  • happy puppet syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SNURF in MalaCards View complete list of genes associated with diseases

Relevant External Links for SNURF

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SNURF
genes like me logo Genes that share disorders with SNURF: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SNURF Gene

Publications for SNURF Gene

  1. An imprinted, mammalian bicistronic transcript encodes two independent proteins. (PMID: 10318933) Gray T.A. … Nicholls R.D. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 22 64
  2. Analysis of candidate imprinted genes in PWS subjects with atypical genetics: a possible inactivating mutation in the SNURF/SNRPN minimal promoter. (PMID: 17262171) Maina E.N. … Holland A. (J. Hum. Genet. 2007) 3 22 64
  3. Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus. (PMID: 16116039) Rodriguez-Jato S. … Yang T.P. (Nucleic Acids Res. 2005) 3 22 64
  4. Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects. (PMID: 27659713) Hassan M. … Butler M.G. (Eur J Med Genet 2016) 3 64
  5. Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype. (PMID: 24311433) Anderlid B.M. … Nordgren A. (Am. J. Med. Genet. A 2014) 3 64

Products for SNURF Gene

Sources for SNURF Gene

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