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Snrpn
Gene Detail
 Symbol
Name
ID
Snrpn
small nuclear ribonucleoprotein N
MGI:98347
Synonyms 2410045I01Rik, MGC:18604, MGC:30325, Peg4, Pwcr1
Feature Type protein coding gene
Genetic Map
Chromosome 7
34.04 cM
Detailed Genetic Map ± 1 cM


Mapping data(17)
Sequence Map
Chr7:59982502-60140219 bp, - strand
From NCBI annotation of GRCm38

  157718 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:68297  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: small nuclear ribonucleoprotein associated protein, SmB/SmN types
Gene Tree: Snrpn

Human
homologs
Human Homolog SNRPN, small nuclear ribonucleoprotein polypeptide N
NCBI Gene ID 6638
neXtProt AC  NX_P63162
Human Synonyms  HCERN3, PWCR, RT-LI, SM-D, sm-N, SMN, SNRNP-N, SNURF-SNRPN
Human Chr (Location)  15q11.2; chr15:24823647-24978582 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human SNRPN
Mutations,
alleles, and
phenotypes
All mutations/alleles(17) : Gene trapped(3) Targeted(13) Transgenic(1)
Genomic Mutations involving Snrpn (3)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for targeted intragenic deletions are phenotypically normal. Deletions that also encompass neighboring genes on the paternal chromosome exhibit growth retardation, hypotonia, and high mortality.
 
Human Diseases Modeled Using Mouse Snrpn (2)    Alleles Annotated to Human Diseases(5)   
Interactions
Snrpn interacts with 141 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (5 annotations)
Component nucleus, ribonucleoprotein complex, ...
Function RNA binding
External Resources: FuncBase
Expression
Literature Summary: (32 records)
Data Summary: Results (259)    Tissues (33)    Images (31)
Theiler Stages: 15, 17, 20, 21, 23, 26, 28
Assay TypeResults
RNA in situ 221
Northern blot 23
RT-PCR 15
cDNA source data(10)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(31) Genomic(9) cDNA(14) Primer pair(7) Other(1)
Microarray probesets(5)
Other database
links
Ensembl Gene ModelENSMUSG00000000948 (Evidence)
Entrez Gene20646 (Evidence)
Consensus CDS ProjectCCDS39974.1
International Mouse Knockout Project StatusSnrpn
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 20646 NCBI Gene Model | MGI Sequence Detail 157718 C57BL/6J ±  kb
transcript NM_001082962 RefSeq | MGI Sequence Detail 2076 C57BL/6 
polypeptide P63163 UniProt | EBI | MGI Sequence Detail 240 Not Applicable 

For the selected sequences
All sequences(42) RefSeq(6) UniProt(2)
Polymorphisms All PCR and RFLP(7) : PCR(1) RFLP(6) SNPs within 2kb(1874 from dbSNP Build 137)    SNPs within 2kb including multiple locations(1876)
Protein-related
information
ResourceIDDescription
InterPro IPR010920 Like-Sm (LSM) domain
InterPro IPR001163 Ribonucleoprotein LSM domain
InterPro IPR006649 Ribonucleoprotein LSM domain, eukaryotic/archaea-type
InterPro IPR017131 Small ribonucleoprotein associated, SmB/SmN
Protein Ontology PR:000015349 small nuclear ribonucleoprotein-associated protein N
Graphical View of Protein Domain Structure
References (Earliest) J:2311 Gerrelli D, et al., Cloning and sequencing of a mouse embryonal carcinoma cell mRNA encoding the tissue specific RNA splicing protein SmN. Nucleic Acids Res. 1991 Dec 11;19(23):6642
(Latest) J:198496 Resnick JL, et al., Recommendations for the investigation of animal models of Prader-Willi syndrome. Mamm Genome. 2013 Jun;24(5-6):165-78
All references(117)
Disease annotation references (4)
Other
accession IDs
MGD-MRK-14477, MGI:1923808

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/19/2014
MGI 5.19
The Jackson Laboratory