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Tchem
NSD2
Histone-lysine N-methyltransferase NSD2

Protein Summary
Description
Histone methyltransferase with histone H3 'Lys-27' (H3K27me) methyltransferase activity. Isoform 2 may act as a transcription regulator that binds DNA and suppresses IL5 transcription through HDAC recruitment. This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000312087
  • ENSP00000308780
  • ENSG00000109685
  • ENST00000353275
  • ENSP00000329167
  • ENST00000382888
  • ENSP00000372344
  • ENST00000382891
  • ENSP00000372347
  • ENST00000382892
  • ENSP00000372348
  • ENST00000382895
  • ENSP00000372351
  • ENST00000398261
  • ENSP00000381311
  • ENST00000420906
  • ENSP00000399251
  • ENST00000436793
  • ENSP00000416725
  • ENST00000503128
  • ENSP00000425761
  • ENST00000508803
  • ENSP00000423972
  • ENST00000512700
  • ENSP00000427516
  • ENST00000514045
  • ENSP00000421681

Symbol
  • KIAA1090
  • MMSET
  • TRX5
  • WHSC1
  • WHS
  • TRX5
  • KMT3F
  • KMT3G
  • MMSET
  • WHSC1
  • REIIBP
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
0
biological term
0
cell line
0
cell type or tissue
0
cellular component
0


Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GlyGen
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GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 210.43   (req: < 5)
Gene RIFs: 60   (req: <= 3)
Antibodies: 176   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 210.43   (req: >= 5)
Gene RIFs: 60   (req: > 3)
Antibodies: 176   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 17
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 37
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Active Ligands (37)
1 – 10 of 37
SID14730721
Rendered image for SID14730721
SID49736658
Rendered image for SID49736658
SID26658224
Rendered image for SID26658224
SID24807290
Rendered image for SID24807290
SID49735817
Rendered image for SID49735817
SID49716183
Rendered image for SID49716183
SID57261406
Rendered image for SID57261406
SID49731855
Rendered image for SID49731855
SID87338067
Rendered image for SID87338067
SID26665710
Rendered image for SID26665710
GWAS Traits (3)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
6
3
3
1.1
88.6
balding measurement
1
1
1
5.4
BMI-adjusted hip circumference
1
1
1
5.3
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
3
1.1
88.6
balding measurement
1
5.4
BMI-adjusted hip circumference
1
5.3
Orthologs (12)
1 – 5 of 12
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
nuclear receptor binding SET domain protein 2
VGNC:48886
461070
Mouse
MGI:1276574
107823
Rat
RGD:1307955
680537
Dog
nuclear receptor binding SET domain protein 2
VGNC:43981
479077
Horse
nuclear receptor binding SET domain protein 2
VGNC:20898
100051090
Species
Name
OMA
EggNOG
Inparanoid
Chimp
nuclear receptor binding SET domain protein 2
Mouse
Rat
Dog
nuclear receptor binding SET domain protein 2
Horse
nuclear receptor binding SET domain protein 2
Protein Structure (2 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-O96028-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 2 of 2
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (18)
Cell Cycle (R-HSA-1640170)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 15
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Cell Cycle
Reactome
Cell Cycle Checkpoints
Reactome
Chromatin modifying enzymes
Reactome
Chromatin organization
Reactome
DNA Double Strand Break Response
Name
Explore in Pharos
Explore in Source
Cell Cycle
Cell Cycle Checkpoints
Chromatin modifying enzymes
Chromatin organization
DNA Double Strand Break Response
Gene Ontology Terms (21)
Items per page:
10
1 – 6 of 6
GO Term
Evidence
Assigned by
Inferred from Sequence Alignment (ISA)
NTNU_SB
Traceable Author Statement (TAS)
Reactome
Traceable Author Statement (TAS)
Reactome
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Inferred from Electronic Annotation (IEA)
Ensembl
Protein-Protein Interactions (214)
1 – 10 of 214
WDR46
Tbio
Novelty:  0.19307408
p_int:  0.993998655
p_ni:  0.006001345
Score:  0.167
Data Source:  BioPlex,STRINGDB
RPL11
Tbio
Novelty:  0.00448962
p_int:  0.984680341
p_ni:  0.015319659
Score:  0.155
Data Source:  BioPlex,STRINGDB
DGCR8
Tbio
Novelty:  0.00271221
p_int:  0.978419524
p_ni:  0.021580476
Score:  0.175
Data Source:  BioPlex,STRINGDB
RPL30
Tbio
Novelty:  0.0134194
p_int:  0.976604657
p_ni:  0.023395343
Score:  0.254
Data Source:  BioPlex,STRINGDB
HIST1H1E
Tbio
Novelty:  0.01125284
p_int:  0.965841782
p_ni:  0.034158218
Score:  0.173
Data Source:  BioPlex,STRINGDB
PRDM5
Tbio
Family:  TF; Epigenetic
Novelty:  0.01689997
p_int:  0.965634409
p_ni:  0.034365591
Score:  0.361
Data Source:  BioPlex,STRINGDB
RPL7A
Tbio
Novelty:  0.01674027
p_int:  0.960354693
p_ni:  0.039645307
Data Source:  BioPlex
ZNF2
Tbio
Family:  TF
Novelty:  0.01062543
p_int:  0.959963471
p_ni:  0.040036529
Score:  0.221
Data Source:  BioPlex,STRINGDB
CNBP
Tbio
Novelty:  0.00404247
p_int:  0.948583969
p_ni:  0.051416031
Score:  0.25
Data Source:  BioPlex,STRINGDB
ZNF692
Tbio
Family:  TF
Novelty:  0.07012646
p_int:  0.942219879
p_ni:  0.057780121
Score:  0.222
Data Source:  BioPlex,STRINGDB
Publication Statistics
PubMed Score  210.43

PubMed score by year
PubTator Score  95.18

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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