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Snrpn Gene Detail
Summary
  • Symbol
    Snrpn
  • Name
    small nuclear ribonucleoprotein N
  • Synonyms
    2410045I01Rik, MGC:18604, MGC:30325, Peg4, Pwcr1
  • Feature Type
    protein coding gene
  • IDs
    MGI:98347
    NCBI Gene: 20646
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr7:59982495-60005111 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      22617 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 34.04 cM
  • Mapping Data
    17 experiments
Homology
more
  • Human Ortholog
    SNRPN, small nuclear ribonucleoprotein polypeptide N
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SNRPN, small nuclear ribonucleoprotein polypeptide N
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HCERN3, PWCR, RT-LI, SM-D, sm-N, SMN, SNRNP-N, SNURF-SNRPN
  • Links
    NCBI Gene ID: 6638
    neXtProt AC: NX_P63162
    UniProt: P63162

  • Chr Location
    15q11.2; chr15:24823637-24978723 (+)  GRCh38.p7
Human Diseases
more
  • Diseases
    2 with Snrpn mouse models; 2 with human SNRPN associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    24 phenotypes from 9 alleles in 8 genetic backgrounds
    2 phenotypes from multigenic genotypes
    45 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    14
  • GO References
    4
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    259
  • Tissues
    33
  • cDNA Data
    11
  • Literature Summary
    35
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000042349 VEGA Gene Model | MGI Sequence Detail 22617 C57BL/6J ±  kb
    transcript OTTMUST00000111612 VEGA | MGI Sequence Detail 1932 Not Applicable  
    polypeptide OTTMUSP00000062525 VEGA | MGI Sequence Detail 240 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      1850 from dbSNP Build 142
    • PCR
      1
    • RFLP
      6
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 32
      Genomic 9
      cDNA 15
      Primer pair 7
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-14477, MGI:1923808
    References
    more
    • Summaries
      All 141
      Developmental Gene Expression 35
      Diseases 7
      Gene Ontology 4
      Phenotypes 45
    • 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:260252 Nakai N, et al., Serotonin rebalances cortical tuning and behavior linked to autism symptoms in 15q11-13 CNV mice. Sci Adv. 2017 Jun;3(6):e1603001
    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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    06/12/2018
    MGI 6.12     		The Jackson Laboratory