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Nsun2 Gene Detail
Summary
  • Symbol
    Nsun2
  • Name
    NOL1/NOP2/Sun domain family member 2
  • Synonyms
    Misu
  • Feature Type
    protein coding gene
  • IDs
    MGI:107252
    NCBI Gene: 28114
  • Gene Overview
    MyGene.info: NSUN2
Location & Maps
more
  • Sequence Map
    Chr13:69533746-69635780 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      102035 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    NSUN2, NOP2/Sun RNA methyltransferase family member 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NSUN2, NOP2/Sun RNA methyltransferase family member 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    MISU, MRT5, SAKI, TRM4
  • Links
    NCBI Gene ID: 54888
    neXtProt AC: NX_Q08J23

  • Chr Location
    5p15.31; chr5:6599239-6633360 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 9817
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: NSUN2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human NSUN2 associations

Human Disease Mouse Models
       Mental Retardation, Autosomal Recessive 5; MRT5   OMIM: 611091
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    46 phenotypes from 3 alleles in 5 genetic backgrounds
    16 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    27
  • Chemically induced (other)
    1
  • Gene trapped
    23
  • Targeted
    3
  • Genomic Mutations
    1 involving Nsun2
  • Incidental Mutations
Homozygous inactivation of this gene leads to decreased body size, male sterility, and hair cycle anomalies. Additional phenotypes may include reduced body fat, skeletal, craniofacial and eye defects, abnormal erythropoiesis, and altered energy expenditure and gas, glucose, and lipid homeostasis.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024575 VEGA Gene Model | MGI Sequence Detail 102035 C57BL/6J ±  kb
transcript OTTMUST00000060366 VEGA | MGI Sequence Detail 2834 Not Applicable  
polypeptide OTTMUSP00000043252 VEGA | MGI Sequence Detail 757 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    983 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000011450 tRNA (cytosine(34)-C(5))-methyltransferase
  • EC
  • InterPro Domains
    IPR023267 RNA (C5-cytosine) methyltransferase
    IPR029063 S-adenosyl-L-methionine-dependent methyltransferase
    IPR001678 SAM-dependent methyltransferase RsmB/NOP2-type
    IPR023270 tRNA (C5-cytosine) methyltransferase, NCL1
Molecular
Reagents
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  • All nucleic 20
    cDNA 18
    Primer pair 2

    Microarray probesets 8
Other
Accession IDs
less
MGD-MRK-35717
References
more
  • Summaries
    All 40
    Developmental Gene Expression 4
    Gene Ontology 5
    Phenotypes 16
  • Earliest
    J:50869 Ko MSH, et al., Genome-wide mapping of unselected transcripts from extraembryonic tissue of 7.5-day mouse embryos reveals enrichment in the t-complex and under-representation on the X chromosome. Hum Mol Genet. 1998 Nov;7(12):1967-78
  • Latest
    J:214221 Blanco S, et al., Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders. EMBO J. 2014 Sep 17;33(18):2020-39

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
05/17/2016
MGI 6.03
The Jackson Laboratory