About   Help   FAQ
Nsun4 Gene Detail
Summary
  • Symbol
    Nsun4
  • Name
    NOL1/NOP2/Sun domain family, member 4
  • Synonyms
    2310010O12Rik, 2810405F18Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919431
    NCBI Gene: 72181
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:115890202-115911076 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 53.10 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    569 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1919431
 protein coding gene Chr4:115890039-115911076 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028615
 protein coding gene Chr4:116881743-116902313 (-)
A/J MGP_AJ_G0028576
 protein coding gene Chr4:112425826-112446278 (-)
AKR/J MGP_AKRJ_G0028526
 protein coding gene Chr4:114837709-114857672 (-)
BALB/cJ MGP_BALBcJ_G0028597
 protein coding gene Chr4:113051393-113072044 (-)
C3H/HeJ MGP_C3HHeJ_G0028311
 protein coding gene Chr4:116415511-116438143 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029038
 protein coding gene Chr4:121425529-121451880 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026322
 protein coding gene Chr4:106468737-106488494 (-)
CAST/EiJ MGP_CASTEiJ_G0027745
 protein coding gene Chr4:113639090-113661429 (-)
CBA/J MGP_CBAJ_G0028278
 protein coding gene Chr4:124729193-124748941 (-)
DBA/2J MGP_DBA2J_G0028426
 protein coding gene Chr4:113071585-113091367 (-)
FVB/NJ MGP_FVBNJ_G0028394
 protein coding gene Chr4:111572659-111581593 (-)
LP/J MGP_LPJ_G0028528
 protein coding gene Chr4:117097093-117116889 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028421
 protein coding gene Chr4:129727330-129750149 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029075
 protein coding gene Chr4:115995169-116020873 (-)
PWK/PhJ MGP_PWKPhJ_G0027471
 protein coding gene Chr4:109836235-109858174 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027294
 protein coding gene Chr4:112239124-112262115 (-)
WSB/EiJ MGP_WSBEiJ_G0027824
 protein coding gene Chr4:115863791-115885809 (-)



Homology
more
  • Human Ortholog
    NSUN4, NOP2/Sun RNA methyltransferase 4
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NSUN4, NOP2/Sun RNA methyltransferase 4
  • Synonyms
    SHTAP
  • Links
    NCBI Gene ID: 387338
    neXtProt AC: NX_Q96CB9
    UniProt: Q96CB9

  • Chr Location
    1p33; chr1:46340789-46385199 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    7 phenotypes from 1 allele in 1 genetic background
    10 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.
Constitutive homozygous KO is embryonic lethal. Conditional KO in the heart leads to reduced mitochondrial ribosome assembly, which impairs biogenesis of the respiratory chain complexes in mitochondria and leads to premature death.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    18
  • 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
    790
  • Tissues
    37
  • cDNA Data
    52
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 72181 NCBI Gene Model | MGI Sequence Detail 20875 C57BL/6J ±  kb
    transcript NM_001369075 RefSeq | MGI Sequence Detail 4995 C57BL/6  
    polypeptide C4P6S0 UniProt | EBI | MGI Sequence Detail 806 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000033307 Nsun4 gene translation product
      (term hierarchy)
    • EC
      2.1.1.-
    • InterPro Domains
      IPR052322 Mitochondrial rRNA Methyltransferase NSUN4
      IPR023267 RNA (C5-cytosine) methyltransferase
      IPR029063 S-adenosyl-L-methionine-dependent methyltransferase superfamily
      IPR049560 SAM-dependent methyltransferase RsmB-F/NOP2-type, catalytic core
      IPR001678 SAM-dependent methyltransferase RsmB-F/NOP2-type domain
    Molecular
    Reagents
    less
    • All nucleic 53
      cDNA 52
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1919145, MGI:2140324
    References
    more
    • Summaries
      All 35
      Developmental Gene Expression 1
      Gene Ontology 6
      Phenotypes 10
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:211012 Metodiev MD, et al., NSUN4 is a dual function mitochondrial protein required for both methylation of 12S rRNA and coordination of mitoribosomal assembly. PLoS Genet. 2014 Feb;10(2):e1004110
    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)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory