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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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for SNURF Gene

Promoters and enhancers for SNURF Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I024954 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 550.8 +1.0 1045 3.2 ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF143 ATF7 RUNX3 THAP11 PAF1 ENSG00000214265 SNURF PWAR6 PIR32508 SNRPN
GH15I024897 Enhancer 0.5 ENCODE 11.7 -55.8 -55816 2.8 POLR2A NFIB POU5F1 ETS1 EZH2 ENSG00000214265 SNURF SNRPN SNORD109A SNORD116-1 SNORD116-2 SNORD116-3 ENSG00000261069 RPL5P1 PIR42622
GH15I024877 Enhancer 1.3 FANTOM5 Ensembl ENCODE 3.8 -76.7 -76651 1.1 ELF3 ARID4B DMAP1 RAD21 ZNF48 RARA THAP11 KLF11 ZBTB11 USF2 RPL5P1 SNRPN SNURF NPAP1 PIR42622
GH15I024772 Enhancer 1.3 FANTOM5 Ensembl ENCODE 3.2 -182.0 -181976 1.7 ATF1 ARID4B ZBTB40 ZNF48 YY1 ETS1 CREM THAP11 HCFC1 USF2 RPL5P1 SNRPN SNURF PIR54184 PIR61722
GH15I025350 Enhancer 0.3 FANTOM5 3.9 +395.8 395756 0.8 SNURF SNRPN UBE3A ENSG00000261529 GC15P025918 SNHG14
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SNURF on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SNURF gene promoter:

Genomic Locations for SNURF Gene

Genomic Locations for SNURF Gene
23,660 bases
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:
    Recommended name:
    SNRPN upstream reading frame protein
    Protein Accession:
    Secondary Accessions:
    • A6NCW2

    Protein attributes for SNURF Gene

    71 amino acids
    Molecular mass:
    8412 Da
    Quaternary structure:
    No Data Available
    • 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

Other Protein References for SNURF Gene

No data available for DME Specific Peptides for SNURF Gene

Domains & Families for SNURF Gene

Gene Families for SNURF Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SNURF Gene


Suggested Antigen Peptide Sequences for SNURF Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



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

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

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

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

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

No ASD Table

Relevant External Links for SNURF Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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:


mRNA Expression by UniProt/SwissProt for SNURF Gene:

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

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
(Pan troglodytes)
Mammalia SNURF 34
  • 100 (a)
LOC100612044 33
  • 86.67 (n)
(Bos Taurus)
Mammalia SNURF 33
  • 92.49 (n)
(Rattus norvegicus)
Mammalia Snurf 33
  • 90.14 (n)
(Mus musculus)
Mammalia Snurf 33 16 34
  • 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

Gene Tree for SNURF (if available)
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 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 Variation AA Info Type
rs1012644057 uncertain-significance, Autism spectrum disorders 24,974,368(+) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs112560608 uncertain-significance, Autism spectrum disorders 24,974,466(+) A/G genic_downstream_transcript_variant, intron_variant
rs142583293 uncertain-significance, Autism spectrum disorders 24,967,952(+) G/A/T coding_sequence_variant, missense_variant
rs190439178 uncertain-significance, Autism spectrum disorders 24,974,344(+) T/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs371808119 uncertain-significance, Autism spectrum disorders 24,962,217(+) C/G/T intron_variant

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)

Additional Variant Information for SNURF Gene

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

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

Disorders for SNURF Gene

MalaCards: The human disease database

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

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

Additional Disease Information for 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 TA … Nicholls RD (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 22 58
  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 EN … Holland A (Journal of human genetics 2007) 3 22 58
  3. Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus. (PMID: 16116039) Rodriguez-Jato S … Yang TP (Nucleic acids research 2005) 3 22 58
  4. A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype. (PMID: 28554868) Cao Y … Aypar U (European journal of medical genetics 2017) 3 58
  5. Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects. (PMID: 27659713) Hassan M … Butler MG (European journal of medical genetics 2016) 3 58

Products for SNURF Gene

Sources for SNURF Gene

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