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 en... See more...

Aliases for SNURF Gene

Aliases for SNURF Gene

  • SNRPN Upstream Reading Frame 2 3 5
  • SNRPN Upstream Reading Frame Protein 3 4

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 Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SNURF Gene

Genomics for SNURF Gene

GeneHancer (GH) Regulatory Elements for SNURF Gene

Promoters and enhancers for SNURF Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SNURF on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SNURF

Top Transcription factor binding sites by QIAGEN in the SNURF gene promoter:
  • AP-1
  • MyoD
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4

Genomic Locations for SNURF Gene

Genomic Locations for SNURF Gene
chr15:24,954,923-24,978,582
(GRCh38/hg38)
Size:
23,660 bases
Orientation:
Plus strand
chr15:25,200,070-25,223,729
(GRCh37/hg19)
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

Gene Families for SNURF Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SNURF Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SNURF Gene

GenScript: Design optimal peptide antigens:
  • SNRPN upstream reading frame protein (SNURF_HUMAN)

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

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

Phenotypes From GWAS Catalog for SNURF Gene

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SNURF

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
mitochondrion 1

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 IBA,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

;

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

mRNA/cDNA for SNURF Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SNURF

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

Expression for SNURF Gene

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31
  • 100 (a)
OneToMany
LOC100612044 30
  • 86.67 (n)
cow
(Bos Taurus)
Mammalia SNURF 30
  • 92.49 (n)
rat
(Rattus norvegicus)
Mammalia Snurf 30
  • 90.14 (n)
mouse
(Mus musculus)
Mammalia Snurf 17 31 30
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SNURF: view image

Paralogs for SNURF Gene

Paralogs for SNURF Gene

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

  • SNURF_HUMAN
  • G3V4N2_HUMAN

Pseudogenes.org Pseudogenes for SNURF Gene

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

Variants for SNURF Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SNURF Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
723490 Likely Benign: not provided 24,978,257(+) T/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
724361 Benign: not provided 24,976,416(+) T/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
727390 Likely Benign: not provided 24,976,410(+) C/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
735482 Benign: not provided 24,977,882(+) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
737988 Likely Benign: not provided 24,977,819(+) T/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for SNURF Gene

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)
SNURF
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNURF

SNP Genotyping and Copy Number Assay Products

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

Disorders for SNURF Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
prader-willi syndrome
  • pws
angelman syndrome
  • as
autism spectrum disorder
  • asd
autism
  • autistic disorder
- 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 23 54
  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 23 54
  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 23 54
  4. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. (PMID: 29513927) Tomkins JE … Manzoni C (Proteomics 2018) 3 54
  5. 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 54

Products for SNURF Gene

Sources for SNURF Gene