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 k... See more...

Aliases for NSD2 Gene

Aliases for NSD2 Gene

  • Nuclear Receptor Binding SET Domain Protein 2 2 3 5
  • MMSET 2 3 4
  • Histone-Lysine N-Methyltransferase NSD2 3 4
  • Nuclear SET Domain-Containing Protein 2 3 4
  • Wolf-Hirschhorn Syndrome Candidate 1 2 3
  • KMT3G 2 3
  • WHSC1 3 4
  • TRX5 3 4
  • Multiple Myeloma SET Domain Containing Protein Type III 3
  • Probable Histone-Lysine N-Methyltransferase NSD2 3
  • Multiple Myeloma SET Domain Containing Protein 2
  • Multiple Myeloma SET Domain-Containing Protein 4
  • Wolf-Hirschhorn Syndrome Candidate 1 Protein 4
  • IL5 Promoter REII Region-Binding Protein 3
  • Trithorax/Ash1-Related Protein 5 3
  • Protein Trithorax-5 4
  • EC 2.1.1.357 4
  • EC 2.1.1.43 50
  • KIAA1090 4
  • REIIBP 3
  • KMT3F 3
  • NSD2 5
  • WHS 3

External Ids for NSD2 Gene

Previous HGNC Symbols for NSD2 Gene

  • WHSC1

Summaries for NSD2 Gene

Entrez Gene Summary for NSD2 Gene

  • 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]

GeneCards Summary for NSD2 Gene

NSD2 (Nuclear Receptor Binding SET Domain Protein 2) is a Protein Coding gene. Diseases associated with NSD2 include Wolf-Hirschhorn Syndrome and Chromosome 4P Deletion. Among its related pathways are DNA Double-Strand Break Repair and Cell Cycle, Mitotic. An important paralog of this gene is NSD1.

UniProtKB/Swiss-Prot Summary for NSD2 Gene

  • Histone methyltransferase which specifically dimethylates nucleosomal histone H3 at 'Lys-36' (H3K36me2) (PubMed:27571355, PubMed:22099308, PubMed:19808676, PubMed:29728617). Also monomethylates nucleosomal histone H3 at 'Lys-36' (H3K36me) in vitro (PubMed:22099308). Does not trimethylate nucleosomal histone H3 at 'Lys-36' (H3K36me3) (PubMed:22099308). However, specifically trimethylates histone H3 at 'Lys-36' (H3K36me3) at euchromatic regions in embryonic stem (ES) cells (By similarity). By methylating histone H3 at 'Lys-36', involved in the regulation of gene transcription during various biological processes (PubMed:16115125, PubMed:22099308, PubMed:29728617). In ES cells, associates with developmental transcription factors such as SALL1 and represses inappropriate gene transcription mediated by histone deacetylation (By similarity). During heart development, associates with transcription factor NKX2-5 to repress transcription of NKX2-5 target genes (By similarity). Plays an essential role in adipogenesis, by regulating expression of genes involved in pre-adipocyte differentiation (PubMed:29728617). During T-cell receptor (TCR) and CD28-mediated T-cell activation, promotes the transcription of transcription factor BCL6 which is required for follicular helper T (Tfh) cell differentiation (By similarity). During B-cell development, required for the generation of the B1 lineage (By similarity). During B2 cell activation, may contribute to the control of isotype class switch recombination (CRS), splenic germinal center formation, and the humoral immune response (By similarity). Plays a role in class switch recombination of the immunoglobulin heavy chain (IgH) locus during B-cell activation (By similarity). By regulating the methylation of histone H3 at 'Lys-36' and histone H4 at 'Lys-20' at the IgH locus, involved in TP53BP1 recruitment to the IgH switch region and promotes the transcription of IgA (By similarity).
  • [Isoform 1]: Histone methyltransferase which specifically dimethylates nucleosomal histone H3 at 'Lys-36' (H3K36me2).
  • [Isoform 4]: Histone methyltransferase which specifically dimethylates nucleosomal histone H3 at 'Lys-36' (H3K36me2) (PubMed:22099308). Methylation of histone H3 at 'Lys-27' is controversial (PubMed:18172012, PubMed:22099308). Mono-, di- or tri-methylates histone H3 at 'Lys-27' (H3K27me, H3K27me2 and H3K27me3) (PubMed:18172012). Does not methylate histone H3 at 'Lys-27' (PubMed:22099308). May act as a transcription regulator that binds DNA and suppresses IL5 transcription through HDAC recruitment (PubMed:11152655, PubMed:18172012).

Gene Wiki entry for NSD2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NSD2 Gene

Genomics for NSD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NSD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J001867 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 252.8 -0.2 -203 7 BCLAF1 ZNF207 MYC ZNF600 ZNF592 KLF9 POLR2A CEBPA NFIC ZBTB10 NSD2 HSALNG0032327 HSALNG0032328 RN7SL671P lnc-LETM1-1 RNF4 HAUS3 NELFA UVSSA GAK
GH04J001854 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.4 -15.1 -15149 4.5 BCLAF1 SP1 ZNF207 MYC ZNF600 SIX5 SSRP1 ZNF580 ZNF592 KLF9 LETM1 MN298084 lnc-TMEM129-3 NSD2 FAM193A NELFA RNF4 HAUS3 SLBP-DT CTBP1-DT
GH04J001885 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 250.4 +16.7 16708 5.8 TBP SPI1 MAX ZBTB33 MEIS2 DPF2 ARID1B PKNOX1 ATF3 DACH1 NSD2 HSALNG0032328 HSALNG0032329 C4orf48
GH04J002007 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 12 +137.6 137608 3.6 BCLAF1 ZNF207 IKZF1 MYC ZNF600 SIX5 SSRP1 JUND ZNF580 ZNF592 NELFA lnc-NSD2-1 HAUS3 NOP14-AS1 FAM193A RNF4 MFSD10 SCARNA22 C4orf48 SH3BP2
GH04J001907 Enhancer 0.8 Ensembl ENCODE dbSUPER 12 +37.0 36993 1.2 CREB1 FOS ESRRA SCRT2 NSD2 LETM1 HSALNG0032329 HSALNG0032328 C4orf48
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NSD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NSD2

Genomic Locations for NSD2 Gene

Latest Assembly
chr4:1,871,393-1,982,207
(GRCh38/hg38)
Size:
110,815 bases
Orientation:
Plus strand

Previous Assembly
chr4:1,873,120-1,983,919
(GRCh37/hg19 by Entrez Gene)
Size:
110,800 bases
Orientation:
Plus strand

chr4:1,873,151-1,983,934
(GRCh37/hg19 by Ensembl)
Size:
110,784 bases
Orientation:
Plus strand

Genomic View for NSD2 Gene

Genes around NSD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NSD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NSD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NSD2 Gene

Proteins for NSD2 Gene

  • Protein details for NSD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O96028-NSD2_HUMAN
    Recommended name:
    Histone-lysine N-methyltransferase NSD2
    Protein Accession:
    O96028
    Secondary Accessions:
    • A2A2T2
    • A2A2T3
    • A2A2T4
    • A7MCZ1
    • D3DVQ2
    • O96031
    • Q4VBY8
    • Q672J1
    • Q6IS00
    • Q86V01
    • Q9BZB4
    • Q9UI92
    • Q9UPR2

    Protein attributes for NSD2 Gene

    Size:
    1365 amino acids
    Molecular mass:
    152258 Da
    Quaternary structure:
    • Interacts with HDAC1. Interacts (via PHD-type zinc fingers 1, 2 and 3) with SALL1. Interacts (via PHD-type 1, 2 and 3) with SALL4. Interacts with NANOG. Interacts with OGT. Interacts (via HMG box) with NKX2-5.
    SequenceCaution:
    • Sequence=BAA83042.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NSD2 Gene

    Alternative splice isoforms for NSD2 Gene

neXtProt entry for NSD2 Gene

Selected DME Specific Peptides for NSD2 Gene

O96028:
  • RFMNHSC
  • ELTFNYN
  • GKWECPWH
  • KGEFVNEYVGELIDEEEC
  • RCPVAYH
  • CGKFYHE
  • IIDAGPKGN

Post-translational modifications for NSD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for NSD2 Gene

Gene Families for NSD2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NSD2 Gene

InterPro:
Blocks:
  • Zn-finger, RING
  • Nuclear protein SET
  • SET-related region
  • PWWP domain

Suggested Antigen Peptide Sequences for NSD2 Gene

GenScript: Design optimal peptide antigens:
  • Wolf-Hirschhorn syndrome candidate 1 (A2A2T2_HUMAN)
  • Multiple-myeloma-related WHSC1/MMSET isoform RE-IIBP (B3VCH6_HUMAN)
  • Wolf-Hirschhorn syndrome candidate 1 protein (NSD2_HUMAN)
  • WHSC1 protein (Q05CW4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O96028

UniProtKB/Swiss-Prot:

NSD2_HUMAN :
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily.
genes like me logo Genes that share domains with NSD2: view

Function for NSD2 Gene

Molecular function for NSD2 Gene

UniProtKB/Swiss-Prot Function:
Histone methyltransferase which specifically dimethylates nucleosomal histone H3 at 'Lys-36' (H3K36me2) (PubMed:27571355, PubMed:22099308, PubMed:19808676, PubMed:29728617). Also monomethylates nucleosomal histone H3 at 'Lys-36' (H3K36me) in vitro (PubMed:22099308). Does not trimethylate nucleosomal histone H3 at 'Lys-36' (H3K36me3) (PubMed:22099308). However, specifically trimethylates histone H3 at 'Lys-36' (H3K36me3) at euchromatic regions in embryonic stem (ES) cells (By similarity). By methylating histone H3 at 'Lys-36', involved in the regulation of gene transcription during various biological processes (PubMed:16115125, PubMed:22099308, PubMed:29728617). In ES cells, associates with developmental transcription factors such as SALL1 and represses inappropriate gene transcription mediated by histone deacetylation (By similarity). During heart development, associates with transcription factor NKX2-5 to repress transcription of NKX2-5 target genes (By similarity). Plays an essential role in adipogenesis, by regulating expression of genes involved in pre-adipocyte differentiation (PubMed:29728617). During T-cell receptor (TCR) and CD28-mediated T-cell activation, promotes the transcription of transcription factor BCL6 which is required for follicular helper T (Tfh) cell differentiation (By similarity). During B-cell development, required for the generation of the B1 lineage (By similarity). During B2 cell activation, may contribute to the control of isotype class switch recombination (CRS), splenic germinal center formation, and the humoral immune response (By similarity). Plays a role in class switch recombination of the immunoglobulin heavy chain (IgH) locus during B-cell activation (By similarity). By regulating the methylation of histone H3 at 'Lys-36' and histone H4 at 'Lys-20' at the IgH locus, involved in TP53BP1 recruitment to the IgH switch region and promotes the transcription of IgA (By similarity).
UniProtKB/Swiss-Prot Function:
[Isoform 1]: Histone methyltransferase which specifically dimethylates nucleosomal histone H3 at 'Lys-36' (H3K36me2).
UniProtKB/Swiss-Prot Function:
[Isoform 4]: Histone methyltransferase which specifically dimethylates nucleosomal histone H3 at 'Lys-36' (H3K36me2) (PubMed:22099308). Methylation of histone H3 at 'Lys-27' is controversial (PubMed:18172012, PubMed:22099308). Mono-, di- or tri-methylates histone H3 at 'Lys-27' (H3K27me, H3K27me2 and H3K27me3) (PubMed:18172012). Does not methylate histone H3 at 'Lys-27' (PubMed:22099308). May act as a transcription regulator that binds DNA and suppresses IL5 transcription through HDAC recruitment (PubMed:11152655, PubMed:18172012).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-lysyl(36)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(36)-[histone H3] + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:60312, Rhea:RHEA-COMP:9785, Rhea:RHEA-COMP:9786, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61929; Evidence={ECO:0000269|PubMed:19808676, ECO:0000269|PubMed:22099308};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-lysyl(36)-[histone H3] + 2 S-adenosyl-L-methionine = 2 H(+) + N(6),N(6)-dimethyl-L-lysyl(36)-[histone H3] + 2 S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:60308, Rhea:RHEA-COMP:9785, Rhea:RHEA-COMP:9787, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61976; EC=2.1.1.357; Evidence={ECO:0000269|PubMed:19808676, ECO:0000269|PubMed:22099308, ECO:0000269|PubMed:27571355, ECO:0000269|PubMed:29728617};.

Enzyme Numbers (IUBMB) for NSD2 Gene

Phenotypes From GWAS Catalog for NSD2 Gene

Gene Ontology (GO) - Molecular Function for NSD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0005515 protein binding IEA,IPI 19481544
GO:0008168 methyltransferase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with NSD2: view
genes like me logo Genes that share phenotypes with NSD2: view

Human Phenotype Ontology for NSD2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NSD2 Gene

MGI Knock Outs for NSD2:
  • Nsd2 Nsd2<tm1Ykan>

miRNA for NSD2 Gene

miRTarBase miRNAs that target NSD2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NSD2

Clone products for research

  • Addgene plasmids for NSD2

No data available for Transcription Factor Targets and HOMER Transcription for NSD2 Gene

Localization for NSD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NSD2 Gene

Nucleus. Chromosome. Note=In embryonic stem (ES) cells, localizes to small foci, probably corresponding to euchromatin (By similarity). In B-cells, localizes to Ig heavy chain switch region during class switch recombination (By similarity). {ECO:0000250 UniProtKB:Q8BVE8}.
[Isoform 1]: Nucleus. Chromosome.
[Isoform 3]: Nucleus.
[Isoform 4]: Cytoplasm. Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NSD2 gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 2
cytosol 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NSD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IBA 21873635
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0005730 nucleolus IEA --
genes like me logo Genes that share ontologies with NSD2: view

Pathways & Interactions for NSD2 Gene

genes like me logo Genes that share pathways with NSD2: view

SIGNOR curated interactions for NSD2 Gene

Activates:

Gene Ontology (GO) - Biological Process for NSD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0003149 membranous septum morphogenesis IEA --
GO:0003289 atrial septum primum morphogenesis IEA --
GO:0003290 atrial septum secundum morphogenesis IEA --
GO:0006303 double-strand break repair via nonhomologous end joining TAS --
genes like me logo Genes that share ontologies with NSD2: view

Drugs & Compounds for NSD2 Gene

(2) Drugs for NSD2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lysine Approved Nutra 187
s-adenosylhomocysteine Experimental Pharma 0

(1) Additional Compounds for NSD2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-Amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3
genes like me logo Genes that share compounds with NSD2: view

Transcripts for NSD2 Gene

mRNA/cDNA for NSD2 Gene

10 REFSEQ mRNAs :
27 NCBI additional mRNA sequence :
31 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NSD2

Clone products for research

  • Addgene plasmids for NSD2

Alternative Splicing Database (ASD) splice patterns (SP) for NSD2 Gene

No ASD Table

Relevant External Links for NSD2 Gene

GeneLoc Exon Structure for
NSD2

Expression for NSD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NSD2

mRNA Expression by UniProt/SwissProt for NSD2 Gene:

O96028-NSD2_HUMAN
Tissue specificity: Widely expressed (PubMed:9618163, PubMed:18172012). Predominantly expressed in thymus and testis (PubMed:9787135, PubMed:18172012).

Evidence on tissue expression from TISSUES for NSD2 Gene

  • Nervous system(4.9)
  • Spleen(4.4)
  • Bone marrow(2.9)
  • Intestine(2.6)
  • Blood(2.5)
  • Lymph node(2.4)
  • Eye(2.3)
  • Skin(2.3)
  • Thyroid gland(2.3)
  • Lung(2.1)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NSD2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • urethra
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with NSD2: view

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for NSD2 Gene

Orthologs for NSD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NSD2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia WHSC1 29 30
  • 99.71 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia WHSC1 29 30
  • 88.39 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Whsc1 29 30
  • 87.39 (n)
OneToOne
Nsd2 16
Rat
(Rattus norvegicus)
Mammalia Whsc1 29
  • 86.85 (n)
Oppossum
(Monodelphis domestica)
Mammalia WHSC1 30
  • 83 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia WHSC1 29 30
  • 82.91 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia WHSC1 30
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves WHSC1 29 30
  • 76.93 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia WHSC1 30
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia whsc1 29
  • 68.29 (n)
Zebrafish
(Danio rerio)
Actinopterygii whsc1 29 30
  • 67.56 (n)
OneToOne
wufc12c04 29
Fruit Fly
(Drosophila melanogaster)
Insecta Mes-4 30
  • 23 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea set-23 30
  • 33 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9549 30
  • 53 (a)
OneToMany
Species where no ortholog for NSD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for NSD2 Gene

ENSEMBL:
Gene Tree for NSD2 (if available)
TreeFam:
Gene Tree for NSD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NSD2: view image
Alliance of Genome Resources:
Additional Orthologs for NSD2

Paralogs for NSD2 Gene

Pseudogenes.org Pseudogenes for NSD2 Gene

genes like me logo Genes that share paralogs with NSD2: view

Variants for NSD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NSD2 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
1017333 Uncertain Significance: not provided 1,904,240(+) C/T
NM_001042424.3(NSD2):c.622C>T (p.Pro208Ser)
MISSENSE
1029069 Pathogenic: 4p partial monosomy syndrome 1,957,938(+) C/T
NM_001042424.3(NSD2):c.2887C>T (p.Gln963Ter)
NONSENSE
976658 Pathogenic: NSD2-associated disorder; atypical Wolf-Hirschhorn syndrome 1,904,235(+) CT/C
NM_001042424.3(NSD2):c.619del (p.Cys207fs)
FRAMESHIFT
977746 Uncertain Significance: Wolf-Hirschhorn like syndrome 1,869,268(+) GAACTAAATGATCCAC
Single allele
GENIC_UPSTREAM_TRANSCRIPT
985811 Pathogenic: Inborn genetic diseases 1,916,924(+) G/T
NM_001042424.3(NSD2):c.814G>T (p.Glu272Ter)
NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NSD2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NSD2 Gene

Variant ID Type Subtype PubMed ID
dgv8903n54 CNV gain 21841781
dgv8904n54 CNV gain+loss 21841781
dgv8905n54 CNV gain+loss 21841781
dgv8906n54 CNV loss 21841781
esv27096 CNV loss 19812545
esv2726833 CNV deletion 23290073
esv2726834 CNV deletion 23290073
nsv1073290 CNV deletion 25765185
nsv1144066 CNV deletion 24896259
nsv478611 CNV novel sequence insertion 20440878
nsv593340 CNV gain 21841781
nsv593346 CNV loss 21841781
nsv593347 CNV gain 21841781
nsv593348 CNV gain 21841781
nsv593349 CNV gain+loss 21841781
nsv593361 CNV gain 21841781
nsv593364 CNV gain+loss 21841781
nsv819354 CNV gain 19587683
nsv829836 CNV loss 17160897

Variation tolerance for NSD2 Gene

Residual Variation Intolerance Score: 1.99% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.70; 32.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NSD2 Gene

Human Gene Mutation Database (HGMD)
NSD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NSD2
Leiden Open Variation Database (LOVD)
NSD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NSD2 Gene

Disorders for NSD2 Gene

MalaCards: The human disease database

(16) MalaCards diseases for NSD2 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search NSD2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NSD2_HUMAN
  • Note=A chromosomal aberration involving NSD2 is a cause of multiple myeloma tumors. Translocation t(4;14)(p16.3;q32.3) with IgH. {ECO:0000269 PubMed:10945609, ECO:0000269 PubMed:11337357, ECO:0000269 PubMed:12433679, ECO:0000269 PubMed:15257719, ECO:0000269 PubMed:9618163, ECO:0000269 PubMed:9787135}.
  • Note=NSD2 is located in the Wolf-Hirschhorn syndrome (WHS) critical region. WHS results from by sub-telomeric deletions in the short arm of chromosome 4. NSD2 is deleted in every case, however deletion of linked genes contributes to both the severity of the core characteristics and the presence of the additional syndromic problems. {ECO:0000269 PubMed:15734578}.

Additional Disease Information for NSD2

genes like me logo Genes that share disorders with NSD2: view

No data available for Genatlas for NSD2 Gene

Publications for NSD2 Gene

  1. WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. (PMID: 9618163) Stec I … den Dunnen JT (Human molecular genetics 1998) 2 3 4 22
  2. The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts. (PMID: 9787135) Chesi M … Bergsagel PL (Blood 1998) 2 3 4 22
  3. Multiple-myeloma-related WHSC1/MMSET isoform RE-IIBP is a histone methyltransferase with transcriptional repression activity. (PMID: 18172012) Kim JY … Seo SB (Molecular and cellular biology 2008) 3 4 22
  4. Overexpression of transcripts originating from the MMSET locus characterizes all t(4;14)(p16;q32)-positive multiple myeloma patients. (PMID: 15677557) Keats JJ … Pilarski LM (Blood 2005) 3 4 22
  5. Transcription repression activity is associated with the type I isoform of the MMSET gene involved in t(4;14) in multiple myeloma. (PMID: 16197452) Todoerti K … Neri A (British journal of haematology 2005) 3 4 22

Products for NSD2 Gene

Sources for NSD2 Gene