About   Help   FAQ
Nsd2 Gene Detail
Summary
  • Symbol
    Nsd2
  • Name
    nuclear receptor binding SET domain protein 2
  • Synonyms
    5830445G22Rik, 9430010A17Rik, C130020C13Rik, D030027O06Rik, D930023B08Rik, mKIAA1090, Whsc1, Whsc1l
  • Feature Type
    protein coding gene
  • IDs
    MGI:1276574
    NCBI Gene: 107823
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:33978069-34055319 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 17.83 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1073 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1276574
 protein coding gene Chr5:33974286-34055319 (+)
129S1/SvImJ MGP_129S1SvImJ_G0029454
 protein coding gene Chr5:32027954-32106380 (+)
A/J MGP_AJ_G0029421
 protein coding gene Chr5:30975582-31054272 (+)
AKR/J MGP_AKRJ_G0029370
 protein coding gene Chr5:32173252-32253968 (+)
BALB/cJ MGP_BALBcJ_G0029431
 protein coding gene Chr5:31506863-31586119 (+)
C3H/HeJ MGP_C3HHeJ_G0029153
 protein coding gene Chr5:32214745-32292789 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029885
 protein coding gene Chr5:33906065-33987400 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027122
 protein coding gene Chr5:28781196-28856755 (+)
CAST/EiJ MGP_CASTEiJ_G0028562
 protein coding gene Chr5:31295043-31375924 (+)
CBA/J MGP_CBAJ_G0029121
 protein coding gene Chr5:34633469-34717247 (+)
DBA/2J MGP_DBA2J_G0029269
 protein coding gene Chr5:31156639-31235111 (+)
FVB/NJ MGP_FVBNJ_G0029228
 protein coding gene Chr5:30585266-30663911 (+)
LP/J MGP_LPJ_G0029354
 protein coding gene Chr5:32446194-32525172 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029258
 protein coding gene Chr5:35498452-35593314 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029918
 protein coding gene Chr5:31695030-31771922 (+)
PWK/PhJ MGP_PWKPhJ_G0028287
 protein coding gene Chr5:30290431-30370341 (+)
SPRET/EiJ MGP_SPRETEiJ_G0028118
 protein coding gene Chr5:31135269-31216371 (+)
WSB/EiJ MGP_WSBEiJ_G0028643
 protein coding gene Chr5:31764385-31847788 (+)



Homology
more
  • Human Ortholog
    NSD2, nuclear receptor binding SET domain protein 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NSD2, nuclear receptor binding SET domain protein 2
  • Synonyms
    KMT3F, KMT3G, MMSET, RAUST, REIIBP, TRX5, WHS, WHSC1
  • Links
    NCBI Gene ID: 7468
    neXtProt AC: NX_O96028
    UniProt: O96028

  • Chr Location
    4p16.3; chr4:1871393-1982207 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Nsd2 mouse models; 1 with human NSD2 associations

Human Disease Mouse Models
      
IDs
 View 6 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    11 phenotypes from 1 allele in 1 genetic background
    3 phenotypes from multigenic genotypes
    36 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.
Homozygous null mice display reduced fetal size, failed sternum ossification, cleft palate, atrial and ventricular septal defects, stunted growth and postnatal death. Some heterozygotes show severe growth defects, malocclusion, delayed sternum ossification and hypoplasia of the septum secundum.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    34
  • GO References
    11
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
    936
  • Tissues
    177
  • cDNA Data
    28
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000057406 Ensembl Gene Model | MGI Sequence Detail 77251 C57BL/6J ±  kb
    transcript ENSMUST00000075812 Ensembl | MGI Sequence Detail 7142 Not Applicable  
    polypeptide ENSMUSP00000075210 Ensembl | MGI Sequence Detail 1366 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      10 Sequences
    • Protein Ontology
      PR:000030426 histone-lysine N-methyltransferase NSD2
      (term hierarchy)
    • EC
      2.1.1.357
    • InterPro Domains
      IPR006560 AWS domain
      IPR009071 High mobility group box domain
      IPR036910 High mobility group box domain superfamily
      IPR047426 Histone-lysine N-methyltransferase NSD1 / NSD2, first PHD finger
      IPR041306 NSD, Cys-His rich domain
      IPR047442 Nuclear SET domain-containing protein 2, fifth PHD finger
      IPR047434 Nuclear SET domain-containing protein 2, first PWWP domain
      IPR047443 Nuclear SET domain-containing protein 2, HMG box
      IPR047439 Nuclear SET domain-containing protein 2, second PHD finger
      IPR047435 Nuclear SET domain-containing protein 2, second PWWP domain
      IPR047437 Nuclear SET domain-containing protein 2, SET domain
      IPR047441 Nuclear SET domain-containing protein 2, third PHD finger
      IPR003616 Post-SET domain
      IPR000313 PWWP domain
      IPR050777 SET2 Histone-Lysine N-Methyltransferase
      IPR001214 SET domain
      IPR046341 SET domain superfamily
      IPR042778 Zinc finger CW-type PWWP domain protein ZCWPW1/ZCWPW2
      IPR011011 Zinc finger, FYVE/PHD-type
      IPR019787 Zinc finger, PHD-finger
      IPR001965 Zinc finger, PHD-type
      IPR019786 Zinc finger, PHD-type, conserved site
      IPR013083 Zinc finger, RING/FYVE/PHD-type
      IPR001841 Zinc finger, RING-type
    • GlyGen
      Q8BVE8 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 33
      cDNA 29
      Primer pair 4

      Microarray probesets 10
    Other
    Accession IDs
    less
    MGI:1923296, MGI:1924531, MGI:2141235, MGI:2442003, MGI:2442363, MGI:2443975
    References
    more
    • Summaries
      All 86
      Developmental Gene Expression 12
      Diseases 2
      Gene Ontology 11
      Phenotypes 36
    • Earliest
      J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
    • Latest
      J:347725 Kawai T, et al., Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome. Genet Med Open. 2024;2
    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
    12/17/2024
    MGI 6.24     		The Jackson Laboratory