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Aliases for SNRPN Gene

Aliases for SNRPN Gene

  • Small Nuclear Ribonucleoprotein Polypeptide N 2 3 5
  • SM Protein N 2 3 4
  • Tissue-Specific Splicing Protein 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
  • Small Nuclear Ribonucleoprotein-Associated Protein N 3
  • Prader-Willi Syndrome Chromosome Region 2
  • Small Nuclear Ribonucleoprotein N 2
  • Tissue-Specific-Splicing Protein 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

  • This gene is located within the Prader-Willi Syndrome critical region on chromosome 15 and is imprinted and expressed from the paternal allele. It encodes a component of the small nuclear ribonucleoprotein complex, which functions in pre-mRNA processing and may contribute to tissue-specific alternative splicing. Alternative promoter use and alternative splicing result in a multitude of transcript variants encoding the same protein. Transcript variants that initiate at the CpG island-associated imprinting center may be bicistronic and also encode the SNRPN upstream reading frame protein (SNURF) from an upstream open reading frame. In addition, long spliced transcripts for small nucleolar RNA host gene 14 (SNHG14) may originate from the promoters at this locus and share exons with this gene. Alterations in this region are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome. [provided by RefSeq, Mar 2017]

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 Gene Expression. 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 CIViC summary , 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 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
GH15G024856 1 Ensembl ENCODE 12.2 +34.6 34595 4.3 CTCF TFAP4 FOXA2 SAP130 TEAD4 CEBPG CHD7 GATA2 POLR2A FOS SNRPN SNHG14 ENSG00000280118 PIR42622
GH15G024877 1.5 FANTOM5 Ensembl ENCODE 4.9 +54.6 54635 1.1 ELF3 TBP FOXA2 ARID4B DMAP1 RAD21 ZNF48 RARA THAP11 PAF1 SNRPN SNURF NPAP1 PIR42622 RPL5P1
GH15G024897 0.6 ENCODE 11.7 +75.5 75470 2.8 POLR2A BCL11A SMARCA4 NFIB POU5F1 ETS1 ENSG00000214265 SNURF SNRPN SNORD109A SNORD116-1 SNORD116-2 SNORD116-3 ENSG00000261069 RPL5P1 PIR42622
GH15G024772 1.5 FANTOM5 Ensembl ENCODE 3.4 -50.7 -50691 1.7 ATF1 ARID4B ZBTB40 ZNF48 YY1 ETS1 ELK1 CREM THAP11 HCFC1 SNRPN SNURF PIR54184 PIR61722
GH15G024763 0.4 ENCODE 11.5 -59.0 -58960 1.5 PAF1 RFX1 SNRPN PWRN2 PIR54184 PIR61722
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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.

    Three dimensional structures from OCA and Proteopedia for SNRPN Gene

    Alternative splice isoforms for SNRPN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNRPN Gene

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.

Gene Ontology (GO) - Molecular Function for SNRPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 18951082
genes like me logo Genes that share ontologies with SNRPN: view
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

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
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 SNRPN gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for SNRPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex TAS 1533223
GO:0005682 U5 snRNP IBA --
GO:0005685 U1 snRNP 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

Gene Ontology (GO) - Biological Process for SNRPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0008380 RNA splicing TAS 1533223
GO:0009725 response to hormone IEA --
genes like me logo Genes that share ontologies with SNRPN: view

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

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

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SNRPN Gene



Protein tissue co-expression partners for SNRPN Gene

NURSA nuclear receptor signaling pathways regulating expression of SNRPN Gene:

SNRPN

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.

Evidence on tissue expression from TISSUES for SNRPN Gene

  • Nervous system(5)
  • Kidney(4.7)
  • Lung(4.2)
  • Pancreas(4.1)
  • Eye(3.6)
  • Muscle(3)
  • Liver(2.7)
  • Thyroid gland(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SNRPN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • larynx
  • lip
  • mouth
  • neck
  • nose
  • pharynx
  • pituitary gland
  • skull
  • vocal cord
Thorax:
  • breast
  • diaphragm
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • adrenal gland
  • intestine
  • large intestine
  • small intestine
  • spleen
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with SNRPN: view

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
chimpanzee
(Pan troglodytes)
Mammalia SNRPN 34 35
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia SNRPB 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SNRPN 34 35
  • 92.78 (n)
cow
(Bos Taurus)
Mammalia SNRPN 34 35
  • 92.5 (n)
mouse
(Mus musculus)
Mammalia Snrpn 34 16 35
  • 91.53 (n)
rat
(Rattus norvegicus)
Mammalia Snrpn 34
  • 91.53 (n)
chicken
(Gallus gallus)
Aves SNRPB 34
  • 78.58 (n)
SNRB 35
  • 47 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 92 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia snrpb 34
  • 79.49 (n)
zebrafish
(Danio rerio)
Actinopterygii snrpb 34 35
  • 77.41 (n)
Dr.7936 34
fruit fly
(Drosophila melanogaster)
Insecta SmB 36 34 35
  • 64.84 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005523 34
  • 61.76 (n)
worm
(Caenorhabditis elegans)
Secernentea snr-2 34 35
  • 60.19 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMB1 35
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8195 35
  • 64 (a)
OneToMany
Species where no ortholog for SNRPN was found in the sources mined by GeneCards:
  • 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
rs56684653 Likely benign 24,829,910(+) GGTGG(A/G)TTTGC intron-variant
rs705 Likely benign 24,974,365(+) GAACC(C/T)GCGTC utr-variant-3-prime, utr-variant-5-prime
rs7170796 Likely benign 24,829,812(+) GGATC(C/T)GTGGA intron-variant, utr-variant-5-prime
rs75184959 Likely benign 24,974,415(+) ATCAA(A/G)TTTTA utr-variant-3-prime, utr-variant-5-prime
rs80135925 Likely benign 24,886,525(+) TTTGA(C/T)GAAGG utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
dgv1178n106 CNV deletion 24896259
dgv1179n106 CNV tandem duplication 24896259
dgv2470n100 CNV loss 25217958
dgv2471n100 CNV loss 25217958
dgv2472n100 CNV loss 25217958
dgv2473n100 CNV loss 25217958
dgv4376n54 CNV loss 21841781
dgv444e199 CNV deletion 23128226
esv1000872 CNV deletion 20482838
esv1068695 CNV insertion 17803354
esv1633915 CNV deletion 17803354
esv1686273 CNV deletion 17803354
esv21872 CNV loss 19812545
esv2598663 CNV deletion 19546169
esv2653478 CNV deletion 19546169
esv2663597 CNV deletion 23128226
esv2666560 CNV deletion 23128226
esv2669321 CNV deletion 23128226
esv2674507 CNV deletion 23128226
esv2678343 CNV deletion 23128226
esv2760019 CNV loss 17122850
esv2760389 CNV loss 21179565
esv3242679 CNV deletion 24192839
esv34441 CNV loss 17911159
esv3552212 CNV deletion 23714750
esv3552213 CNV deletion 23714750
esv3581562 CNV loss 25503493
esv3581563 CNV loss 25503493
esv3581564 CNV loss 25503493
esv3581565 CNV loss 25503493
esv3581566 CNV loss 25503493
esv3635908 CNV loss 21293372
esv3635909 CNV loss 21293372
esv3635910 CNV loss 21293372
esv3635911 CNV loss 21293372
esv3635912 CNV loss 21293372
esv3635913 CNV loss 21293372
esv3635914 CNV loss 21293372
nsv1045067 CNV gain 25217958
nsv1050932 CNV loss 25217958
nsv1069841 CNV deletion 25765185
nsv1069842 CNV deletion 25765185
nsv1070260 CNV deletion 25765185
nsv1131176 CNV deletion 24896259
nsv442365 CNV loss 18776908
nsv456730 CNV loss 19166990
nsv510656 CNV deletion 20534489
nsv512388 CNV loss 21212237
nsv514771 CNV loss 21397061
nsv514772 CNV loss 21397061
nsv515875 CNV loss 19592680
nsv516596 CNV loss 19592680
nsv568530 CNV loss 21841781
nsv568533 CNV loss 21841781
nsv568534 CNV loss 21841781
nsv817675 CNV loss 17921354
nsv817676 CNV loss 17921354
nsv819181 CNV loss 19587683
nsv820045 CNV gain 19587683
nsv827256 CNV loss 20364138
nsv9197 CNV loss 18304495
nsv9198 CNV loss 18304495
nsv9199 CNV loss 18304495
nsv958004 CNV deletion 24416366
nsv958799 CNV deletion 24416366
nsv977673 CNV duplication 23825009

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNRPN

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

Disorders for SNRPN Gene

MalaCards: The human disease database

(12) 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 22 64
  2. Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene. (PMID: 8571960) Glenn C.C. … Nicholls R.D. (Am. J. Hum. Genet. 1996) 3 4 22 64
  3. 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 22 64
  4. Transmission disequilibrium testing of the chromosome 15q11-q13 region in autism. (PMID: 18361419) Kim S.J. … Cook E.H. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008) 3 46 64
  5. Framingham Heart Study genome-wide association: results for pulmonary function measures. (PMID: 17903307) Wilk J.B. … O'Connor G.T. (BMC Med. Genet. 2007) 3 46 64

Products for SNRPN Gene

Sources for SNRPN Gene

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