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    Nsd2 nuclear receptor binding SET domain protein 2 [ Mus musculus (house mouse) ]

    Gene ID: 107823, updated on 9-Dec-2024

    Summary

    Official Symbol
    Nsd2provided by MGI
    Official Full Name
    nuclear receptor binding SET domain protein 2provided by MGI
    Primary source
    MGI:MGI:1276574
    See related
    Ensembl:ENSMUSG00000057406 AllianceGenome:MGI:1276574
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    MMSET; Whsc1; Whsc1l; mKIAA1090; 5830445G22Rik; 9430010A17Rik; C130020C13Rik; D030027O06Rik; D930023B08Rik
    Summary
    Enables chromatin binding activity; histone H3K36 trimethyltransferase activity; and sequence-specific DNA binding activity. Acts upstream of or within several processes, including bone development; cardiac septum morphogenesis; and regulation of nucleobase-containing compound metabolic process. Located in nucleus. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Used to study Wolf-Hirschhorn syndrome. Human ortholog(s) of this gene implicated in lung non-small cell carcinoma. Orthologous to human NSD2 (nuclear receptor binding SET domain protein 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in CNS E11.5 (RPKM 14.4), CNS E14 (RPKM 12.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Nsd2 in Genome Data Viewer
    Location:
    5 B2; 5 17.83 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (33974286..34055310)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (33820676..33897966)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_12830 Neighboring gene leucine zipper-EF-hand containing transmembrane protein 1 Neighboring gene ribosomal protein S29 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E6319 Neighboring gene ATP synthase subunit g, mitochondrial pseudogene Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:34194226-34194436 Neighboring gene STARR-seq mESC enhancer starr_12832 Neighboring gene microRNA 7024 Neighboring gene negative elongation factor complex member A, Whsc2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:34279052-34279239 Neighboring gene STARR-seq mESC enhancer starr_12833 Neighboring gene STARR-seq mESC enhancer starr_12834 Neighboring gene predicted gene, 30802

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (5) 
    • Targeted (2)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables histone H3K36 dimethyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3K36 methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables histone H3K36 methyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables histone H3K36 methyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables histone H3K36 trimethyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables histone methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    histone-lysine N-methyltransferase NSD2
    Names
    IL5 promoter REII region-binding protein
    multiple myeloma SET domain-containing protein
    nuclear SET domain-containing protein 2
    probable histone-lysine N-methyltransferase NSD2
    trithorax/ash1-related protein 5
    wolf-Hirschhorn syndrome candidate 1 protein homolog
    NP_001074571.2
    NP_001171355.1
    NP_780440.2
    XP_006503721.1
    XP_006503722.1
    XP_006503723.1
    XP_006503724.1
    XP_006503725.1
    XP_030109896.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001081102.2NP_001074571.2  histone-lysine N-methyltransferase NSD2 isoform 1

      See identical proteins and their annotated locations for NP_001074571.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). The 5' UTR of this variant may be incomplete due to the lack of 5'-complete transcripts supporting it, and the presence of alternative splicing choices further upstream.
      Source sequence(s)
      AC163329, BE986660, CF532498, CF742194
      Consensus CDS
      CCDS51467.1
      UniProtKB/Swiss-Prot
      Q8BVE8
      Related
      ENSMUSP00000067205.8, ENSMUST00000066854.14
      Conserved Domains (12) summary
      cd05837
      Location:218337
      MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
      cd05838
      Location:879972
      WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
      smart00570
      Location:10131063
      AWS; associated with SET domains
      COG5034
      Location:546711
      TNG2; Chromatin remodeling protein, contains PhD zinc finger [Chromatin structure and dynamics]
      cd00084
      Location:460505
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
      cd15648
      Location:670712
      PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2
      cd15651
      Location:717763
      PHD2_NSD2; PHD finger 2 found in nuclear SET domain-containing protein 2 (NSD2)
      cd15654
      Location:764817
      PHD3_NSD2; PHD finger 3 found in nuclear SET domain-containing protein 2 (NSD2)
      cd15660
      Location:12421284
      PHD5_NSD2; PHD finger 5 found in nuclear SET domain-containing protein 2 (NSD2)
      pfam17982
      Location:12831328
      C5HCH; NSD Cys-His rich domain
      cd19211
      Location:10631204
      SET_NSD2; SET domain (including post-SET domain) found in nuclear SET domain-containing protein 2 (NSD2) and similar proteins
      cl22851
      Location:834874
      PHD_SF; PHD finger superfamily
    2. NM_001177884.1NP_001171355.1  histone-lysine N-methyltransferase NSD2 isoform 3

      See identical proteins and their annotated locations for NP_001171355.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1, resulting in an isoform (3) with a distinct and significantly shorter C-terminus, compared to isoform 1. The 5' UTR of this variant may be incomplete due to the lack of 5'-complete transcripts supporting it, and the presence of alternative splicing choices further upstream.
      Source sequence(s)
      AC163329, AK079112, AW494481, CF532498, CF742194
      UniProtKB/TrEMBL
      B2RY48
      Related
      ENSMUSP00000117233.2, ENSMUST00000141416.5
      Conserved Domains (2) summary
      cd05837
      Location:218337
      MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
      cl00082
      Location:460502
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
    3. NM_175231.2NP_780440.2  histone-lysine N-methyltransferase NSD2 isoform 2

      See identical proteins and their annotated locations for NP_780440.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (2) that is 1 aa shorter than isoform 1. The 5' UTR of this variant may be incomplete due to the lack of 5'-complete transcripts supporting it, and the presence of alternative splicing choices further upstream.
      Source sequence(s)
      AC163329, BE986660, CF532498, CF742194
      Consensus CDS
      CCDS51468.1
      UniProtKB/Swiss-Prot
      B3VCH6, Q6ZPY1, Q7TSF5, Q811F0, Q8BVE8
      Related
      ENSMUSP00000058940.8, ENSMUST00000058096.14
      Conserved Domains (12) summary
      cd05837
      Location:218337
      MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
      cd05838
      Location:878971
      WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
      smart00570
      Location:10121062
      AWS; associated with SET domains
      COG5034
      Location:546710
      TNG2; Chromatin remodeling protein, contains PhD zinc finger [Chromatin structure and dynamics]
      cd00084
      Location:460505
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
      cd15648
      Location:669711
      PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2
      cd15651
      Location:716762
      PHD2_NSD2; PHD finger 2 found in nuclear SET domain-containing protein 2 (NSD2)
      cd15654
      Location:763816
      PHD3_NSD2; PHD finger 3 found in nuclear SET domain-containing protein 2 (NSD2)
      cd15660
      Location:12411283
      PHD5_NSD2; PHD finger 5 found in nuclear SET domain-containing protein 2 (NSD2)
      pfam17982
      Location:12821327
      C5HCH; NSD Cys-His rich domain
      cd19211
      Location:10621203
      SET_NSD2; SET domain (including post-SET domain) found in nuclear SET domain-containing protein 2 (NSD2) and similar proteins
      cl22851
      Location:833873
      PHD_SF; PHD finger superfamily

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      33974286..34055310
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006503658.5XP_006503721.1  histone-lysine N-methyltransferase NSD2 isoform X1

      See identical proteins and their annotated locations for XP_006503721.1

      UniProtKB/Swiss-Prot
      Q8BVE8
      Related
      ENSMUSP00000075210.5, ENSMUST00000075812.11
      Conserved Domains (12) summary
      cd05837
      Location:218337
      MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
      cd05838
      Location:879972
      WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
      smart00570
      Location:10131063
      AWS; associated with SET domains
      COG5034
      Location:546711
      TNG2; Chromatin remodeling protein, contains PhD zinc finger [Chromatin structure and dynamics]
      cd00084
      Location:460505
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
      cd15648
      Location:670712
      PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2
      cd15651
      Location:717763
      PHD2_NSD2; PHD finger 2 found in nuclear SET domain-containing protein 2 (NSD2)
      cd15654
      Location:764817
      PHD3_NSD2; PHD finger 3 found in nuclear SET domain-containing protein 2 (NSD2)
      cd15660
      Location:12421284
      PHD5_NSD2; PHD finger 5 found in nuclear SET domain-containing protein 2 (NSD2)
      pfam17982
      Location:12831328
      C5HCH; NSD Cys-His rich domain
      cd19211
      Location:10631204
      SET_NSD2; SET domain (including post-SET domain) found in nuclear SET domain-containing protein 2 (NSD2) and similar proteins
      cl22851
      Location:834874
      PHD_SF; PHD finger superfamily
    2. XM_006503660.5XP_006503723.1  histone-lysine N-methyltransferase NSD2 isoform X2

      See identical proteins and their annotated locations for XP_006503723.1

      UniProtKB/Swiss-Prot
      B3VCH6, Q6ZPY1, Q7TSF5, Q811F0, Q8BVE8
      Conserved Domains (12) summary
      cd05837
      Location:218337
      MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
      cd05838
      Location:878971
      WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
      smart00570
      Location:10121062
      AWS; associated with SET domains
      COG5034
      Location:546710
      TNG2; Chromatin remodeling protein, contains PhD zinc finger [Chromatin structure and dynamics]
      cd00084
      Location:460505
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
      cd15648
      Location:669711
      PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2
      cd15651
      Location:716762
      PHD2_NSD2; PHD finger 2 found in nuclear SET domain-containing protein 2 (NSD2)
      cd15654
      Location:763816
      PHD3_NSD2; PHD finger 3 found in nuclear SET domain-containing protein 2 (NSD2)
      cd15660
      Location:12411283
      PHD5_NSD2; PHD finger 5 found in nuclear SET domain-containing protein 2 (NSD2)
      pfam17982
      Location:12821327
      C5HCH; NSD Cys-His rich domain
      cd19211
      Location:10621203
      SET_NSD2; SET domain (including post-SET domain) found in nuclear SET domain-containing protein 2 (NSD2) and similar proteins
      cl22851
      Location:833873
      PHD_SF; PHD finger superfamily
    3. XM_006503661.5XP_006503724.1  histone-lysine N-methyltransferase NSD2 isoform X3

      See identical proteins and their annotated locations for XP_006503724.1

      UniProtKB/TrEMBL
      B2RY48
      Conserved Domains (2) summary
      cd05837
      Location:218337
      MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
      cl00082
      Location:460502
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
    4. XM_006503662.5XP_006503725.1  histone-lysine N-methyltransferase NSD2 isoform X4

      UniProtKB/TrEMBL
      D3Z3E0, D3Z3E4
      Related
      ENSMUSP00000110041.2, ENSMUST00000114399.8
      Conserved Domains (2) summary
      cd05837
      Location:218337
      MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
      cl00082
      Location:460502
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
    5. XM_006503659.5XP_006503722.1  histone-lysine N-methyltransferase NSD2 isoform X1

      See identical proteins and their annotated locations for XP_006503722.1

      UniProtKB/Swiss-Prot
      Q8BVE8
      Conserved Domains (12) summary
      cd05837
      Location:218337
      MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
      cd05838
      Location:879972
      WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
      smart00570
      Location:10131063
      AWS; associated with SET domains
      COG5034
      Location:546711
      TNG2; Chromatin remodeling protein, contains PhD zinc finger [Chromatin structure and dynamics]
      cd00084
      Location:460505
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
      cd15648
      Location:670712
      PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2
      cd15651
      Location:717763
      PHD2_NSD2; PHD finger 2 found in nuclear SET domain-containing protein 2 (NSD2)
      cd15654
      Location:764817
      PHD3_NSD2; PHD finger 3 found in nuclear SET domain-containing protein 2 (NSD2)
      cd15660
      Location:12421284
      PHD5_NSD2; PHD finger 5 found in nuclear SET domain-containing protein 2 (NSD2)
      pfam17982
      Location:12831328
      C5HCH; NSD Cys-His rich domain
      cd19211
      Location:10631204
      SET_NSD2; SET domain (including post-SET domain) found in nuclear SET domain-containing protein 2 (NSD2) and similar proteins
      cl22851
      Location:834874
      PHD_SF; PHD finger superfamily
    6. XM_030254036.2XP_030109896.1  histone-lysine N-methyltransferase NSD2 isoform X2

      UniProtKB/Swiss-Prot
      B3VCH6, Q6ZPY1, Q7TSF5, Q811F0, Q8BVE8
      Conserved Domains (12) summary
      cd05837
      Location:218337
      MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
      cd05838
      Location:878971
      WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
      smart00570
      Location:10121062
      AWS; associated with SET domains
      COG5034
      Location:546710
      TNG2; Chromatin remodeling protein, contains PhD zinc finger [Chromatin structure and dynamics]
      cd00084
      Location:460505
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
      cd15648
      Location:669711
      PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2
      cd15651
      Location:716762
      PHD2_NSD2; PHD finger 2 found in nuclear SET domain-containing protein 2 (NSD2)
      cd15654
      Location:763816
      PHD3_NSD2; PHD finger 3 found in nuclear SET domain-containing protein 2 (NSD2)
      cd15660
      Location:12411283
      PHD5_NSD2; PHD finger 5 found in nuclear SET domain-containing protein 2 (NSD2)
      pfam17982
      Location:12821327
      C5HCH; NSD Cys-His rich domain
      cd19211
      Location:10621203
      SET_NSD2; SET domain (including post-SET domain) found in nuclear SET domain-containing protein 2 (NSD2) and similar proteins
      cl22851
      Location:833873
      PHD_SF; PHD finger superfamily