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    NSD2 nuclear receptor binding SET domain protein 2 [ Homo sapiens (human) ]

    Gene ID: 7468, updated on 1-Mar-2024

    Summary

    Official Symbol
    NSD2provided by HGNC
    Official Full Name
    nuclear receptor binding SET domain protein 2provided by HGNC
    Primary source
    HGNC:HGNC:12766
    See related
    Ensembl:ENSG00000109685 MIM:602952; AllianceGenome:HGNC:12766
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    WHS; TRX5; KMT3F; KMT3G; MMSET; RAUST; WHSC1; REIIBP
    Summary
    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]
    Expression
    Broad expression in testis (RPKM 9.1), bone marrow (RPKM 6.6) 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:
    4p16.3
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (1871393..1982192)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (1869868..1980701)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (1873120..1983919)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1828066-1828868 Neighboring gene leucine zipper and EF-hand containing transmembrane protein 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:1844335-1844585 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:1856349-1856525 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:1857091-1857592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21161 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1858969-1859764 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:1872049-1872550 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15151 Neighboring gene RNA, 7SL, cytoplasmic 671, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21162 Neighboring gene small Cajal body-specific RNA 22 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1993535-1994374 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1999747-2000246 Neighboring gene negative elongation factor complex member A Neighboring gene microRNA 943 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:2010384-2010884 Neighboring gene uncharacterized LOC124900839 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2042861-2043362 Neighboring gene NELL2 interacting cell ontogeny regulator 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    4p partial monosomy syndrome
    MedGen: C1956097 OMIM: 194190 GeneReviews: Not available
    Compare labs
    Rauch-Steindl syndrome
    MedGen: C5562061 OMIM: 619695 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2023-10-25)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2023-10-25)

    ClinGen Genome Curation Page

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ23286, KIAA1090, MGC176638

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3 methyltransferase activity TAS
    Traceable Author Statement
    more info
     
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables histone H3K36 trimethyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H4K20 methyltransferase activity TAS
    Traceable Author Statement
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in atrial septum primum morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in atrial septum secundum morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bone development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in double-strand break repair TAS
    Traceable Author Statement
    more info
     
    involved_in membranous septum morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of isotype switching to IgA isotypes IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of double-strand break repair via nonhomologous end joining IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of establishment of protein localization 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 cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    histone-lysine N-methyltransferase NSD2
    Names
    IL5 promoter REII region-binding protein
    Wolf-Hirschhorn syndrome candidate 1
    multiple myeloma SET domain containing protein type III
    nuclear SET domain-containing protein 2
    probable histone-lysine N-methyltransferase NSD2
    trithorax/ash1-related protein 5
    NP_001035889.1
    NP_015627.1
    NP_579877.1
    NP_579878.1
    NP_579889.1
    NP_579890.1
    XP_005248058.1
    XP_005248059.1
    XP_005248062.1
    XP_011511862.1
    XP_047272093.1
    XP_047272094.1
    XP_047272095.1
    XP_047272097.1
    XP_047272098.1
    XP_047272099.1
    XP_047272100.1
    XP_054206773.1
    XP_054206774.1
    XP_054206775.1
    XP_054206776.1
    XP_054206777.1
    XP_054206778.1
    XP_054206779.1
    XP_054206780.1
    XP_054206781.1
    XP_054206782.1
    XP_054206783.1
    XP_054206784.1

    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.

    Genomic

    1. NG_009269.1 RefSeqGene

      Range
      4998..115797
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001042424.3NP_001035889.1  histone-lysine N-methyltransferase NSD2 isoform 1

      See identical proteins and their annotated locations for NP_001035889.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) contains a novel 5' non-coding exon compared to transcript variant 1, hence has a different 5' UTR. However, it encodes the same isoform (1) as transcript variants 1, 2 and 3.
      Source sequence(s)
      AC105448, AF071593, BC032731, BC094825, BM982021, CX866583
      Consensus CDS
      CCDS33940.1
      UniProtKB/Swiss-Prot
      A2A2T2, A2A2T3, A2A2T4, A7MCZ1, D3DVQ2, O96028, O96031, Q4VBY8, Q672J1, Q6IS00, Q86V01, Q9BZB4, Q9UI92, Q9UPR2
      Related
      ENSP00000423972.1, ENST00000508803.6
      Conserved Domains (11) 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:878972
      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
      smart00317
      Location:10631186
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      COG5034
      Location:546710
      TNG2; Chromatin remodeling protein, contains PhD zinc finger [Chromatin structure and dynamics]
      cd00084
      Location:458507
      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)
      cd15657
      Location:833873
      PHD4_NSD2; PHD finger 4 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)
    2. NM_007331.2NP_015627.1  histone-lysine N-methyltransferase NSD2 isoform 4

      See identical proteins and their annotated locations for NP_015627.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) contains an additional fragment beyond the 3' end of exon 11, and lacks exons 12-25, as compared to variant 1. This fragment shifts the reading frame and introduces an immediate translation termination. This variant encodes isoform 4, which is much shorter and has a different C-terminus from isoform 1.
      Source sequence(s)
      AF083391
      Consensus CDS
      CCDS46999.1
      UniProtKB/TrEMBL
      A0A7P0P278
      Related
      ENSP00000399251.2, ENST00000420906.6
      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 ...
      cd00084
      Location:458507
      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_133330.3NP_579877.1  histone-lysine N-methyltransferase NSD2 isoform 1

      See identical proteins and their annotated locations for NP_579877.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks exon 12, and contains only 24 exons. It encodes the longest isoform (1).
      Source sequence(s)
      AF083386, AI695058
      Consensus CDS
      CCDS33940.1
      UniProtKB/Swiss-Prot
      A2A2T2, A2A2T3, A2A2T4, A7MCZ1, D3DVQ2, O96028, O96031, Q4VBY8, Q672J1, Q6IS00, Q86V01, Q9BZB4, Q9UI92, Q9UPR2
      Related
      ENSP00000372351.3, ENST00000382895.7
      Conserved Domains (11) 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:878972
      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
      smart00317
      Location:10631186
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      COG5034
      Location:546710
      TNG2; Chromatin remodeling protein, contains PhD zinc finger [Chromatin structure and dynamics]
      cd00084
      Location:458507
      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)
      cd15657
      Location:833873
      PHD4_NSD2; PHD finger 4 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)
    4. NM_133331.3NP_579878.1  histone-lysine N-methyltransferase NSD2 isoform 1

      See identical proteins and their annotated locations for NP_579878.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks exon 2 in the 5' UTR, as compared to variant 1. It encodes the same isoform (1) as variants 1 and 3.
      Source sequence(s)
      AF083387, AI695058
      Consensus CDS
      CCDS33940.1
      UniProtKB/Swiss-Prot
      A2A2T2, A2A2T3, A2A2T4, A7MCZ1, D3DVQ2, O96028, O96031, Q4VBY8, Q672J1, Q6IS00, Q86V01, Q9BZB4, Q9UI92, Q9UPR2
      Related
      ENSP00000372348.2, ENST00000382892.6
      Conserved Domains (11) 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:878972
      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
      smart00317
      Location:10631186
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      COG5034
      Location:546710
      TNG2; Chromatin remodeling protein, contains PhD zinc finger [Chromatin structure and dynamics]
      cd00084
      Location:458507
      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)
      cd15657
      Location:833873
      PHD4_NSD2; PHD finger 4 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)
    5. NM_133334.2NP_579889.1  histone-lysine N-methyltransferase NSD2 isoform 3

      See identical proteins and their annotated locations for NP_579889.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) is missing most of the exons from the 3' end compared to variant 1. It has a different 3' UTR and encodes a shorter isoform (3) with a different C-terminus compared to isoform 1.
      Source sequence(s)
      AF071594, AL132868
      Consensus CDS
      CCDS3356.1
      UniProtKB/TrEMBL
      A0A7P0P278
      Related
      ENSP00000381311.1, ENST00000398261.6
      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 ...
      cd00084
      Location:458507
      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 ...
    6. NM_133335.4NP_579890.1  histone-lysine N-methyltransferase NSD2 isoform 1

      See identical proteins and their annotated locations for NP_579890.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks exons 2 and 3 in the 5' UTR, as compared to variant 1. It encodes the same isoform (1) as variants 1 and 2.
      Source sequence(s)
      AF071593, AF083388, AI339675, AI695058
      Consensus CDS
      CCDS33940.1
      UniProtKB/Swiss-Prot
      A2A2T2, A2A2T3, A2A2T4, A7MCZ1, D3DVQ2, O96028, O96031, Q4VBY8, Q672J1, Q6IS00, Q86V01, Q9BZB4, Q9UI92, Q9UPR2
      Related
      ENSP00000372347.5, ENST00000382891.9
      Conserved Domains (11) 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:878972
      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
      smart00317
      Location:10631186
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      COG5034
      Location:546710
      TNG2; Chromatin remodeling protein, contains PhD zinc finger [Chromatin structure and dynamics]
      cd00084
      Location:458507
      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)
      cd15657
      Location:833873
      PHD4_NSD2; PHD finger 4 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)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      1871393..1982192
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416138.1XP_047272094.1  histone-lysine N-methyltransferase NSD2 isoform X1

      UniProtKB/Swiss-Prot
      A2A2T2, A2A2T3, A2A2T4, A7MCZ1, D3DVQ2, O96028, O96031, Q4VBY8, Q672J1, Q6IS00, Q86V01, Q9BZB4, Q9UI92, Q9UPR2
    2. XM_047416141.1XP_047272097.1  histone-lysine N-methyltransferase NSD2 isoform X2

    3. XM_047416137.1XP_047272093.1  histone-lysine N-methyltransferase NSD2 isoform X1

      UniProtKB/Swiss-Prot
      A2A2T2, A2A2T3, A2A2T4, A7MCZ1, D3DVQ2, O96028, O96031, Q4VBY8, Q672J1, Q6IS00, Q86V01, Q9BZB4, Q9UI92, Q9UPR2
    4. XM_005248002.4XP_005248059.1  histone-lysine N-methyltransferase NSD2 isoform X2

      Conserved Domains (10) 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:809903
      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:943993
      AWS; associated with SET domains
      smart00317
      Location:9941117
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd00084
      Location:458507
      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:600642
      PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2
      cd15651
      Location:647693
      PHD2_NSD2; PHD finger 2 found in nuclear SET domain-containing protein 2 (NSD2)
      cd15654
      Location:694747
      PHD3_NSD2; PHD finger 3 found in nuclear SET domain-containing protein 2 (NSD2)
      cd15660
      Location:11721214
      PHD5_NSD2; PHD finger 5 found in nuclear SET domain-containing protein 2 (NSD2)
      cl22851
      Location:764804
      PHD_SF; PHD finger superfamily
    5. XM_047416143.1XP_047272099.1  histone-lysine N-methyltransferase NSD2 isoform X3

      UniProtKB/TrEMBL
      A0A7P0P278
      Related
      ENSP00000427516.2, ENST00000512700.2
    6. XM_047416144.1XP_047272100.1  histone-lysine N-methyltransferase NSD2 isoform X4

      UniProtKB/TrEMBL
      A0A7P0P278
      Related
      ENSP00000308780.6, ENST00000312087.10
    7. XM_005248005.4XP_005248062.1  histone-lysine N-methyltransferase NSD2 isoform X4

      See identical proteins and their annotated locations for XP_005248062.1

      UniProtKB/TrEMBL
      A0A7P0P278
      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 ...
      cd00084
      Location:458507
      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 ...
    8. XM_047416142.1XP_047272098.1  histone-lysine N-methyltransferase NSD2 isoform X2

    9. XM_005248001.5XP_005248058.1  histone-lysine N-methyltransferase NSD2 isoform X1

      See identical proteins and their annotated locations for XP_005248058.1

      UniProtKB/Swiss-Prot
      A2A2T2, A2A2T3, A2A2T4, A7MCZ1, D3DVQ2, O96028, O96031, Q4VBY8, Q672J1, Q6IS00, Q86V01, Q9BZB4, Q9UI92, Q9UPR2
      Conserved Domains (11) 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:878972
      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
      smart00317
      Location:10631186
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      COG5034
      Location:546710
      TNG2; Chromatin remodeling protein, contains PhD zinc finger [Chromatin structure and dynamics]
      cd00084
      Location:458507
      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)
      cd15657
      Location:833873
      PHD4_NSD2; PHD finger 4 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)
    10. XM_047416139.1XP_047272095.1  histone-lysine N-methyltransferase NSD2 isoform X1

      UniProtKB/Swiss-Prot
      A2A2T2, A2A2T3, A2A2T4, A7MCZ1, D3DVQ2, O96028, O96031, Q4VBY8, Q672J1, Q6IS00, Q86V01, Q9BZB4, Q9UI92, Q9UPR2
    11. XM_011513560.3XP_011511862.1  histone-lysine N-methyltransferase NSD2 isoform X5

      See identical proteins and their annotated locations for XP_011511862.1

      UniProtKB/Swiss-Prot
      O96028
      Related
      ENSP00000372344.3, ENST00000382888.3
      Conserved Domains (4) summary
      cd05838
      Location:97191
      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:231281
      AWS; associated with SET domains
      smart00317
      Location:282405
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cl22851
      Location:460502
      PHD_SF; PHD finger superfamily

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      1869868..1980701
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350799.1XP_054206774.1  histone-lysine N-methyltransferase NSD2 isoform X1

      UniProtKB/Swiss-Prot
      A2A2T2, A2A2T3, A2A2T4, A7MCZ1, D3DVQ2, O96028, O96031, Q4VBY8, Q672J1, Q6IS00, Q86V01, Q9BZB4, Q9UI92, Q9UPR2
    2. XM_054350804.1XP_054206779.1  histone-lysine N-methyltransferase NSD2 isoform X2

    3. XM_054350798.1XP_054206773.1  histone-lysine N-methyltransferase NSD2 isoform X1

      UniProtKB/Swiss-Prot
      A2A2T2, A2A2T3, A2A2T4, A7MCZ1, D3DVQ2, O96028, O96031, Q4VBY8, Q672J1, Q6IS00, Q86V01, Q9BZB4, Q9UI92, Q9UPR2
    4. XM_054350802.1XP_054206777.1  histone-lysine N-methyltransferase NSD2 isoform X2

    5. XM_054350803.1XP_054206778.1  histone-lysine N-methyltransferase NSD2 isoform X2

    6. XM_054350806.1XP_054206781.1  histone-lysine N-methyltransferase NSD2 isoform X3

      UniProtKB/TrEMBL
      A0A7P0P278
    7. XM_054350808.1XP_054206783.1  histone-lysine N-methyltransferase NSD2 isoform X4

      UniProtKB/TrEMBL
      A0A7P0P278
    8. XM_054350807.1XP_054206782.1  histone-lysine N-methyltransferase NSD2 isoform X4

      UniProtKB/TrEMBL
      A0A7P0P278
    9. XM_054350805.1XP_054206780.1  histone-lysine N-methyltransferase NSD2 isoform X2

    10. XM_054350800.1XP_054206775.1  histone-lysine N-methyltransferase NSD2 isoform X1

      UniProtKB/Swiss-Prot
      A2A2T2, A2A2T3, A2A2T4, A7MCZ1, D3DVQ2, O96028, O96031, Q4VBY8, Q672J1, Q6IS00, Q86V01, Q9BZB4, Q9UI92, Q9UPR2
    11. XM_054350801.1XP_054206776.1  histone-lysine N-methyltransferase NSD2 isoform X1

      UniProtKB/Swiss-Prot
      A2A2T2, A2A2T3, A2A2T4, A7MCZ1, D3DVQ2, O96028, O96031, Q4VBY8, Q672J1, Q6IS00, Q86V01, Q9BZB4, Q9UI92, Q9UPR2
    12. XM_054350809.1XP_054206784.1  histone-lysine N-methyltransferase NSD2 isoform X5

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_014919.1: Suppressed sequence

      Description
      NM_014919.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    2. NM_133332.1: Suppressed sequence

      Description
      NM_133332.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    3. NM_133333.1: Suppressed sequence

      Description
      NM_133333.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    4. NM_133336.2: Suppressed sequence

      Description
      NM_133336.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.