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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
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:59632243-59789967 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 34.04 cM
  • Mapping Data
    17 experiments
Strain
Comparison
more
  • SNPs within 2kb
    5507 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    6
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98347
 protein coding gene Chr7:59632243-60099925 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032324
 protein coding gene Chr7:60781379-60952194 (-)
A/J MGP_AJ_G0032303
 protein coding gene Chr7:59694423-59858021 (-)
AKR/J MGP_AKRJ_G0032239
 protein coding gene Chr7:61002752-61176440 (-)
BALB/cJ MGP_BALBcJ_G0032315
 protein coding gene Chr7:59298857-59460325 (-)
C3H/HeJ MGP_C3HHeJ_G0032028
 protein coding gene Chr7:61323315-61505870 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032808
 protein coding gene Chr7:63428998-63606320 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029815
 protein coding gene Chr7:62128606-62150947 (-)
CAST/EiJ MGP_CASTEiJ_G0031357
 protein coding gene Chr7:52298451-52510828 (-)
CBA/J MGP_CBAJ_G0031993
 protein coding gene Chr7:65514838-65730780 (-)
DBA/2J MGP_DBA2J_G0032150
 protein coding gene Chr7:58624190-58792998 (-)
FVB/NJ MGP_FVBNJ_G0032104
 protein coding gene Chr7:58601826-58764875 (-)
LP/J MGP_LPJ_G0032231
 protein coding gene Chr7:61924976-62094987 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032141
 protein coding gene Chr7:65257702-65450652 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032825
 protein coding gene Chr7:60293825-60466202 (-)
PWK/PhJ MGP_PWKPhJ_G0031077
 protein coding gene Chr7:51599196-51817277 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030918
 protein coding gene Chr7:47759490-47968201 (-)
WSB/EiJ MGP_WSBEiJ_G0031475
 protein coding gene Chr7:60615843-60824320 (-)



Homology
more
  • Human Ortholog
    SNRPN, small nuclear ribonucleoprotein polypeptide N
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SNRPN, small nuclear ribonucleoprotein polypeptide N
  • 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
Human Diseases
more
  • Diseases
    2 with Snrpn mouse models; 1 with human SNRPN associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
 View 1 model
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
    23 phenotypes from 8 alleles in 7 genetic backgrounds
    1 phenotype from multigenic genotypes
    63 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
    20
  • GO References
    6
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    981
  • Tissues
    36
  • cDNA Data
    12
  • Literature Summary
    38
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000102252 Ensembl Gene Model | MGI Sequence Detail 157725 C57BL/6J ±  kb
    transcript ENSMUST00000059305 Ensembl | MGI Sequence Detail 1932 Not Applicable  
    polypeptide ENSMUSP00000055941 Ensembl | MGI Sequence Detail 240 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 36
      Genomic 9
      cDNA 16
      Primer pair 10
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-14477, MGI:1923808
    References
    more
    • Summaries
      All 168
      Developmental Gene Expression 38
      Diseases 7
      Gene Ontology 6
      Phenotypes 63
    • 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:349477 Bhalla K, et al., Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome. Biochim Biophys Acta Mol Basis Dis. 2024 Apr 16;1870(5):167175
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    11/05/2024
    MGI 6.24     		The Jackson Laboratory