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

Gene ID: 107823, updated on 21-Apr-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-lysine N-methyltransferase activity; and sequence-specific DNA binding activity. Acts upstream of or within several processes, including cardiac septum morphogenesis; histone lysine methylation; 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 Wolf-Hirschhorn syndrome. Orthologous to human NSD2 (nuclear receptor binding SET domain protein 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in CNS E11.5 (RPKM 14.4), CNS E14 (RPKM 12.8) and 25 other tissues See more
Orthologs
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Genomic context

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)
  • Targeted (2)  1 citation
  • Endonuclease-mediated (4) 

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 DNA binding IEA
Inferred from Electronic Annotation
more info
 
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 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 methyltransferase activity 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 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of chromatin IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in chromosome 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