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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
  • Gene Overview
    MyGene.info: NSD2
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:33820730-33897966 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 17.83 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    192 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 Chr5:33820725-33897975 (.)
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
    10
  • Human Ortholog
    NSD2, nuclear receptor binding SET domain protein 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    KMT3F, KMT3G, MMSET, REIIBP, TRX5, WHS, WHSC1
  • Links
    NCBI Gene ID: 7468
    neXtProt AC: NX_O96028
    UniProt: O96028

  • Chr Location
    4p16.3; chr4:1871357-1982207 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 26175
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: NSD2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Nsd2 mouse models; 1 with human NSD2 associations

Human Disease Mouse Models
      
IDs
View 2 models
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
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  • Phenotype Summary
    11 phenotypes from 1 allele in 1 genetic background
    3 phenotypes from multigenic genotypes
    27 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 107823 NCBI Gene Model | MGI Sequence Detail 77237 C57BL/6J ±  kb
    transcript NM_001177884 RefSeq | MGI Sequence Detail 7806 C57BL/6  
    polypeptide Q8BVE8 UniProt | EBI | MGI Sequence Detail 1365 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 31
      cDNA 28
      Primer pair 3

      Microarray probesets 10
    Other
    Accession IDs
    less
    MGI:1923296, MGI:1924531, MGI:2141235, MGI:2442003, MGI:2442363, MGI:2443975
    References
    more
    • Summaries
      All 63
      Developmental Gene Expression 10
      Diseases 2
      Gene Ontology 4
      Phenotypes 27
    • 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:254025 Campos-Sanchez E, et al., Wolf-Hirschhorn Syndrome Candidate 1 Is Necessary for Correct Hematopoietic and B Cell Development. Cell Rep. 2017 May 23;19(8):1586-1601

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory