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Aliases for SNRPN Gene

Aliases for SNRPN Gene

  • Small Nuclear Ribonucleoprotein Polypeptide N 2 3 5
  • Tissue-Specific Splicing Protein 2 3
  • SM Protein N 2 3
  • Sm Protein D 3 4
  • SNRNP-N 3 4
  • HCERN3 3 4
  • SM-D 3 4
  • Sm-N 3 4
  • SMN 3 4
  • Prader-Willi Syndrome Chromosome Region 2
  • Small Nuclear Ribonucleoprotein N 2
  • Tissue-Specific-Splicing Protein 4
  • Sm Protein N 4
  • SNURF-SNRPN 3
  • RT-LI 3
  • PWCR 3

External Ids for SNRPN Gene

Previous HGNC Symbols for SNRPN Gene

  • PWCR

Previous GeneCards Identifiers for SNRPN Gene

  • GC15U990046
  • GC15P017785
  • GC15P022486
  • GC15P022617
  • GC15P022618
  • GC15P022620
  • GC15P025068
  • GC15P003206

Summaries for SNRPN Gene

Entrez Gene Summary for SNRPN Gene

  • The protein encoded by this gene is one polypeptide of a small nuclear ribonucleoprotein complex and belongs to the snRNP SMB/SMN family. The protein plays a role in pre-mRNA processing, possibly tissue-specific alternative splicing events. Although individual snRNPs are believed to recognize specific nucleic acid sequences through RNA-RNA base pairing, the specific role of this family member is unknown. The protein arises from a bicistronic transcript that also encodes a protein identified as the SNRPN upstream reading frame (SNURF). Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region. Additional splice variants have been described but sequences for the complete transcripts have not been determined. The 5' UTR of this gene has been identified as an imprinting center. Alternative splicing or deletion caused by a translocation event in this paternally-expressed region is responsible for Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. [provided by RefSeq, Jul 2008]

GeneCards Summary for SNRPN Gene

SNRPN (Small Nuclear Ribonucleoprotein Polypeptide N) is a Protein Coding gene. Diseases associated with SNRPN include Prader-Willi Syndrome and Autistic Disorder. Among its related pathways are mRNA Splicing - Major Pathway and Gastric cancer network 2. GO annotations related to this gene include RNA binding. An important paralog of this gene is SNRPB.

UniProtKB/Swiss-Prot for SNRPN Gene

  • May be involved in tissue-specific alternative RNA processing events.

Gene Wiki entry for SNRPN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNRPN Gene

Genomics for SNRPN Gene

Regulatory Elements for SNRPN Gene

Enhancers for SNRPN Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SNRPN on UCSC Golden Path with GeneCards custom track

Genomic Location for SNRPN Gene

Chromosome:
15
Start:
24,823,637 bp from pter
End:
24,978,723 bp from pter
Size:
155,087 bases
Orientation:
Plus strand

Genomic View for SNRPN Gene

Genes around SNRPN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SNRPN Gene

Proteins for SNRPN Gene

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

    Protein Symbol:
    P63162-RSMN_HUMAN
    Recommended name:
    Small nuclear ribonucleoprotein-associated protein N
    Protein Accession:
    P63162
    Secondary Accessions:
    • B3KVR1
    • P14648
    • P17135
    • Q0D2Q5

    Protein attributes for SNRPN Gene

    Size:
    240 amino acids
    Molecular mass:
    24614 Da
    Quaternary structure:
    • Interacts with TDRD3.
    Miscellaneous:
    • Encoded on a bicistronic transcript that code for two proteins, SNRPN and SNURF.
    • Patients with the autoimmune disease systemic lupus erythematosus (SLE) have autoantibodies directed against some of the individual snRNP polypeptides. The most common autoantigen is called Sm. N bears Sm epitopes.

    Alternative splice isoforms for SNRPN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNRPN Gene

Proteomics data for SNRPN Gene at MOPED

Post-translational modifications for SNRPN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for SNRPN Gene

Domains & Families for SNRPN Gene

Protein Domains for SNRPN Gene

Suggested Antigen Peptide Sequences for SNRPN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P63162

UniProtKB/Swiss-Prot:

RSMN_HUMAN :
  • Belongs to the snRNP SmB/SmN family.
Family:
  • Belongs to the snRNP SmB/SmN family.
genes like me logo Genes that share domains with SNRPN: view

No data available for Gene Families for SNRPN Gene

Function for SNRPN Gene

Molecular function for SNRPN Gene

GENATLAS Biochemistry:
small ribonucleoprotein,associated polypeptide SmN,paternally expressed,containing an upstream exon (SNURF) deleted in patients with Angelman syndrome with an IC15 deletion,this suggesting a role in maternal imprinting,may be dependent or facilitated by the presence of a nuclear matrix attachment region (MAR),also containing a promoter region playing a critical role in the initiation of imprint switching during spermatogenesis,hypermethylated in benign ovarian teratoma
UniProtKB/Swiss-Prot Function:
May be involved in tissue-specific alternative RNA processing events.
genes like me logo Genes that share phenotypes with SNRPN: view

Human Phenotype Ontology for SNRPN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SNRPN Gene

MGI Knock Outs for SNRPN:

Animal Model Products

miRNA for SNRPN Gene

miRTarBase miRNAs that target SNRPN

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for SNRPN Gene

Localization for SNRPN Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNRPN Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SNRPN Gene COMPARTMENTS Subcellular localization image for SNRPN gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for SNRPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005682 U5 snRNP IBA --
GO:0005685 U1 snRNP IBA --
GO:0005686 U2 snRNP IBA --
GO:0005687 U4 snRNP IBA --
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with SNRPN: view

Pathways & Interactions for SNRPN Gene

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

Pathways by source for SNRPN Gene

2 BioSystems pathways for SNRPN Gene

Gene Ontology (GO) - Biological Process for SNRPN Gene

None

No data available for SIGNOR curated interactions for SNRPN Gene

Drugs & Compounds for SNRPN Gene

(3) Additional Compounds for SNRPN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SNRPN: view

Transcripts for SNRPN Gene

mRNA/cDNA for SNRPN Gene

(5) REFSEQ mRNAs :
(6) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^ 13a · 13b · 13c ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^
SP1: -
SP2: - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - - - - - - - - - - - -
SP5:
SP6: -
SP7: - - - - - - -
SP8: - - -
SP9:
SP10:
SP11:
SP12:

ExUns: 19a · 19b ^ 20 ^ 21a · 21b · 21c · 21d · 21e ^ 22a · 22b ^ 23 ^ 24 ^ 25
SP1:
SP2:
SP3:
SP4: -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -

Relevant External Links for SNRPN Gene

GeneLoc Exon Structure for
SNRPN
ECgene alternative splicing isoforms for
SNRPN

Expression for SNRPN Gene

mRNA expression in normal human tissues for SNRPN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SNRPN Gene

This gene is overexpressed in Skin (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SNRPN Gene



SOURCE GeneReport for Unigene cluster for SNRPN Gene Hs.555970

mRNA Expression by UniProt/SwissProt for SNRPN Gene

P63162-RSMN_HUMAN
Tissue specificity: Expressed in brain and lymphoblasts.
genes like me logo Genes that share expression patterns with SNRPN: view

Protein tissue co-expression partners for SNRPN Gene

No data available for mRNA differential expression in normal tissues for SNRPN Gene

Orthologs for SNRPN Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SNRPN Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SNRPN 35
  • 92.5 (n)
  • 98.75 (a)
SNRPN 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SNRPN 35
  • 92.78 (n)
  • 99.58 (a)
SNRPN 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Snrpn 35
  • 91.53 (n)
  • 100 (a)
Snrpn 16
Snrpn 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SNRPN 35
  • 100 (n)
  • 100 (a)
SNRPN 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Snrpn 35
  • 91.53 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia SNRPB 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves SNRPB 35
  • 78.58 (n)
  • 91.86 (a)
SNRB 36
  • 47 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 92 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia snrpb 35
  • 79.49 (n)
  • 91.4 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.7936 35
snrpb 35
  • 77.41 (n)
  • 90.52 (a)
snrpb 36
  • 91 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta SmB 37
  • 70 (a)
SmB 35
  • 64.84 (n)
  • 71.23 (a)
SmB 36
  • 64 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005523 35
  • 61.76 (n)
  • 66.87 (a)
worm
(Caenorhabditis elegans)
Secernentea snr-2 35
  • 60.19 (n)
  • 58.33 (a)
snr-2 36
  • 58 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMB1 36
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8195 36
  • 64 (a)
OneToMany
Species with no ortholog for SNRPN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • 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 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)
  • wheat (Triticum aestivum)

Evolution for SNRPN Gene

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

Paralogs for SNRPN Gene

Paralogs for SNRPN Gene

(3) SIMAP similar genes for SNRPN Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for SNRPN Gene

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

Variants for SNRPN Gene

Sequence variations from dbSNP and Humsavar for SNRPN Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs172678 -- 24,951,472(+) ccatt(A/T)aaaaa intron-variant
rs182591 -- 24,943,113(+) ttttc(C/T)aatca intron-variant
rs188745 -- 24,950,252(+) gctca(C/T)tgcaa intron-variant
rs188746 -- 24,943,746(+) tacca(A/G)tgggg intron-variant
rs191982 -- 24,944,066(+) atcta(C/T)ctgcc intron-variant

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

Variant ID Type Subtype PubMed ID
esv2674507 CNV Deletion 23128226
dgv710e1 CNV Complex 17122850
essv12116 CNV CNV 17122850
nsv9197 CNV Loss 18304495
esv2678343 CNV Deletion 23128226
nsv817675 CNV Loss 17921354
nsv515875 CNV Loss 19592680
nsv456730 CNV Loss 19166990
nsv820045 CNV Gain 19587683
nsv514771 CNV Loss 21397061
nsv442365 CNV CNV 18776908
essv16379 CNV CNV 17122850
esv34441 CNV Loss 17911159
esv2598663 CNV Deletion 19546169
nsv516596 CNV Loss 19592680
nsv9198 CNV Loss 18304495
nsv9199 CNV Loss 18304495
nsv827256 CNV Loss 20364138
nsv819181 CNV Loss 19587683
nsv514772 CNV Loss 21397061
esv2666560 CNV Deletion 23128226
esv21872 CNV Loss 19812545
nsv817676 CNV Loss 17921354
dgv444e199 CNV Deletion 23128226
nsv510656 CNV Loss 20534489
esv1000872 CNV Deletion 20482838
esv2669321 CNV Deletion 23128226
nsv512388 CNV Loss 21212237
esv2653478 CNV Deletion 19546169
dgv335e201 CNV Deletion 23290073
esv2749453 CNV Deletion 23290073
esv2663597 CNV Deletion 23128226
esv1633915 CNV Deletion 17803354
esv2749455 CNV Deletion 23290073
esv1686273 CNV Deletion 17803354
esv1068695 CNV Insertion 17803354

Variation tolerance for SNRPN Gene

Residual Variation Intolerance Score: 25% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.12; 2.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SNRPN Gene

Human Gene Mutation Database (HGMD)
SNRPN

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

Disorders for SNRPN Gene

MalaCards: The human disease database

(14) MalaCards diseases for SNRPN Gene - From: OMIM, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SNRPN in MalaCards View complete list of genes associated with diseases

Relevant External Links for SNRPN

Genetic Association Database (GAD)
SNRPN
Human Genome Epidemiology (HuGE) Navigator
SNRPN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SNRPN
genes like me logo Genes that share disorders with SNRPN: view

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

Publications for SNRPN 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) 3 4 23 67
  2. The gene encoding the small nuclear ribonucleoprotein-associated protein N is expressed at high levels in neurons. (PMID: 1533223) Schmauss C. … Lerner M.R. (J. Biol. Chem. 1992) 2 3 23
  3. SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome. (PMID: 15014980) Runte M. … Buiting K. (Hum. Genet. 2004) 3 23
  4. A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15. (PMID: 11159938) Wirth J. … Buiting K. (Hum. Mol. Genet. 2001) 3 23
  5. The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A. (PMID: 11726556) Runte M. … Buiting K. (Hum. Mol. Genet. 2001) 3 23

Products for SNRPN Gene

Sources for SNRPN Gene

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