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

Gene ID: 7468, updated on 11-Sep-2019

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
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; 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

Genomic context

See NSD2 in Genome Data Viewer
Location:
4p16.3
Exon count:
29
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (1871393..1982207)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (1873123..1983934)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene leucine zipper and EF-hand containing transmembrane protein 1 Neighboring gene RNA, 7SL, cytoplasmic 671, pseudogene Neighboring gene small Cajal body-specific RNA 22 Neighboring gene negative elongation factor complex member A Neighboring gene microRNA 943 Neighboring gene chromosome 4 open reading frame 48

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: Wolf-Hirschhorn Syndrome
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-09-05)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-09-05)

ClinGen Genome Curation Page

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23286, KIAA1090, MGC176638

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
histone methyltransferase activity (H3-K36 specific) IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone methyltransferase activity (H4-K20 specific) TAS
Traceable Author Statement
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
atrial septum primum morphogenesis IEA
Inferred from Electronic Annotation
more info
 
atrial septum secundum morphogenesis IEA
Inferred from Electronic Annotation
more info
 
bone development IEA
Inferred from Electronic Annotation
more info
 
double-strand break repair via nonhomologous end joining TAS
Traceable Author Statement
more info
 
histone H3-K36 methylation IEA
Inferred from Electronic Annotation
more info
 
histone H4-K20 methylation IEA
Inferred from Electronic Annotation
more info
 
membranous septum morphogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
positive regulation of isotype switching to IgA isotypes IEA
Inferred from Electronic Annotation
more info
 
regulation of double-strand break repair via nonhomologous end joining IEA
Inferred from Electronic Annotation
more info
 
regulation of establishment of protein localization IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
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_006713977.1
XP_011511859.1
XP_011511862.1
XP_016864076.1
XP_016864077.1

NCBI Reference Sequences (RefSeq)

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
    O96028
    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_007331.1NP_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/Swiss-Prot
    O96028
    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_133330.2NP_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
    O96028
    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_133331.2NP_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
    O96028
    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/Swiss-Prot
    O96028
    Related
    ENSP00000381311.1, ENST00000398261.5
    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 ...
    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_133335.3NP_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
    O96028
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    1871393..1982207
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248002.3XP_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
  2. XM_005248005.3XP_005248062.1  histone-lysine N-methyltransferase NSD2 isoform X3

    See identical proteins and their annotated locations for XP_005248062.1

    UniProtKB/Swiss-Prot
    O96028
    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. XM_011513557.2XP_011511859.1  histone-lysine N-methyltransferase NSD2 isoform X1

    See identical proteins and their annotated locations for XP_011511859.1

    UniProtKB/Swiss-Prot
    O96028
    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. XM_005248001.4XP_005248058.1  histone-lysine N-methyltransferase NSD2 isoform X1

    See identical proteins and their annotated locations for XP_005248058.1

    UniProtKB/Swiss-Prot
    O96028
    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. XM_006713914.3XP_006713977.1  histone-lysine N-methyltransferase NSD2 isoform X3

    See identical proteins and their annotated locations for XP_006713977.1

    UniProtKB/Swiss-Prot
    O96028
    Related
    ENSP00000308780.6, ENST00000312087.10
    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. XM_017008587.1XP_016864076.1  histone-lysine N-methyltransferase NSD2 isoform X4

    UniProtKB/Swiss-Prot
    O96028
    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
  7. XM_017008588.1XP_016864077.1  histone-lysine N-methyltransferase NSD2 isoform X4

    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
  8. XM_011513560.2XP_011511862.1  histone-lysine N-methyltransferase NSD2 isoform X4

    See identical proteins and their annotated locations for XP_011511862.1

    UniProtKB/Swiss-Prot
    O96028
    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

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.
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