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

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: mouse all
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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Decreased NSD2 impairs stromal cell proliferation in human endometrium via reprogramming H3K36me2.
Title: Decreased NSD2 impairs stromal cell proliferation in human endometrium via reprogramming H3K36me2.
Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants.
Title: Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants.
Histone Methyltransferase NSD2 Activates PKCalpha to Drive Metabolic Reprogramming and Lenalidomide Resistance in Multiple Myeloma.
Title: Histone Methyltransferase NSD2 Activates PKCα to Drive Metabolic Reprogramming and Lenalidomide Resistance in Multiple Myeloma.
The T1150A cancer mutant of the protein lysine dimethyltransferase NSD2 can introduce H3K36 trimethylation.
Title: The T1150A cancer mutant of the protein lysine dimethyltransferase NSD2 can introduce H3K36 trimethylation.
WHSC1 is involved in DNA damage, cellular senescence and immune response in hepatocellular carcinoma progression.
Title: WHSC1 is involved in DNA damage, cellular senescence and immune response in hepatocellular carcinoma progression.
NSD2 E1099K drives relapse in pediatric acute lymphoblastic leukemia by disrupting 3D chromatin organization.
Title: NSD2 E1099K drives relapse in pediatric acute lymphoblastic leukemia by disrupting 3D chromatin organization.
The location of the t(4;14) translocation breakpoint within the NSD2 gene identifies a subset of patients with high-risk NDMM.
Title: The location of the t(4;14) translocation breakpoint within the NSD2 gene identifies a subset of patients with high-risk NDMM.
The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.
Title: The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.
H3K36me2 methyltransferase NSD2 orchestrates epigenetic reprogramming during spermatogenesis.
Title: H3K36me2 methyltransferase NSD2 orchestrates epigenetic reprogramming during spermatogenesis.
The role of NSD1, NSD2, and NSD3 histone methyltransferases in solid tumors.
Title: The role of NSD1, NSD2, and NSD3 histone methyltransferases in solid tumors.

Submit: New GeneRIF Correction See all GeneRIFs (111)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH92099 (e-PCR)
- UniSTS:85256

GDB:434012 (e-PCR)
- UniSTS:157204

G65620 (e-PCR)
- UniSTS:225556

SHGC-67304 (e-PCR)
- UniSTS:84771

D8S2279 (e-PCR)
- UniSTS:473907

D4S521 (e-PCR)
- UniSTS:27215

REN26772 (e-PCR)
- UniSTS:351572

REN26773 (e-PCR)
- UniSTS:351573

SHGC-59822 (e-PCR)
- UniSTS:8793

D4S114 (e-PCR)
- UniSTS:148319

WHSC1__4905 (e-PCR)
- UniSTS:462947

SHGC-63596 (e-PCR)
- UniSTS:81767

SHGC-67654 (e-PCR)
- UniSTS:17767

D10S16 (e-PCR)
- UniSTS:155756

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

SHGC-59511 (e-PCR)
- UniSTS:9846

G35510 (e-PCR)
- UniSTS:44150

SHGC-31432 (e-PCR)
- UniSTS:32636

D4S2799 (e-PCR)
- UniSTS:50087

ECD24349 (e-PCR)
- UniSTS:305333

RH103657 (e-PCR)
- UniSTS:97982

D4S2522E (e-PCR)
- UniSTS:71641

SHGC-78855 (e-PCR)
- UniSTS:95709

RH102926 (e-PCR)
- UniSTS:97260

D4S1184 (e-PCR)
- UniSTS:77298

A006P34 (e-PCR)
- UniSTS:30716

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

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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

EC 2.1.1.357

NP_015627.1

EC 2.1.1.357

NP_579877.1

EC 2.1.1.357

NP_579878.1

EC 2.1.1.357

NP_579889.1

EC 2.1.1.357

NP_579890.1

EC 2.1.1.357

XP_005248058.1

EC 2.1.1.357

XP_005248059.1

EC 2.1.1.357

XP_005248062.1

EC 2.1.1.357

XP_011511862.1

EC 2.1.1.357

XP_047272093.1

EC 2.1.1.357

XP_047272094.1

EC 2.1.1.357

XP_047272095.1

EC 2.1.1.357

XP_047272097.1

EC 2.1.1.357

XP_047272098.1

EC 2.1.1.357

XP_047272099.1

EC 2.1.1.357

XP_047272100.1

EC 2.1.1.357

XP_054206773.1

EC 2.1.1.357

XP_054206774.1

EC 2.1.1.357

XP_054206775.1

EC 2.1.1.357

XP_054206776.1

EC 2.1.1.357

XP_054206777.1

EC 2.1.1.357

XP_054206778.1

EC 2.1.1.357

XP_054206779.1

EC 2.1.1.357

XP_054206780.1

EC 2.1.1.357

XP_054206781.1

EC 2.1.1.357

XP_054206782.1

EC 2.1.1.357

XP_054206783.1

EC 2.1.1.357

XP_054206784.1

EC 2.1.1.357

NCBI Reference Sequences (RefSeq)

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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

NG_009269.1 RefSeqGene

Range

4998..115797

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001042424.3 → NP_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:218 → 337

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:878 → 972

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:1012 → 1062

AWS; associated with SET domains

smart00317
Location:1063 → 1186

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

COG5034
Location:546 → 710

TNG2; Chromatin remodeling protein, contains PhD zinc finger [Chromatin structure and dynamics]

cd00084
Location:458 → 507

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:669 → 711

PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2

cd15651
Location:716 → 762

PHD2_NSD2; PHD finger 2 found in nuclear SET domain-containing protein 2 (NSD2)

cd15654
Location:763 → 816

PHD3_NSD2; PHD finger 3 found in nuclear SET domain-containing protein 2 (NSD2)

cd15657
Location:833 → 873

PHD4_NSD2; PHD finger 4 found in nuclear SET domain-containing protein 2 (NSD2)

cd15660
Location:1241 → 1283

PHD5_NSD2; PHD finger 5 found in nuclear SET domain-containing protein 2 (NSD2)
NM_007331.2 → NP_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:218 → 337

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:458 → 507

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 ...
NM_133330.3 → NP_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:218 → 337

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:878 → 972

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:1012 → 1062

AWS; associated with SET domains

smart00317
Location:1063 → 1186

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

COG5034
Location:546 → 710

TNG2; Chromatin remodeling protein, contains PhD zinc finger [Chromatin structure and dynamics]

cd00084
Location:458 → 507

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:669 → 711

PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2

cd15651
Location:716 → 762

PHD2_NSD2; PHD finger 2 found in nuclear SET domain-containing protein 2 (NSD2)

cd15654
Location:763 → 816

PHD3_NSD2; PHD finger 3 found in nuclear SET domain-containing protein 2 (NSD2)

cd15657
Location:833 → 873

PHD4_NSD2; PHD finger 4 found in nuclear SET domain-containing protein 2 (NSD2)

cd15660
Location:1241 → 1283

PHD5_NSD2; PHD finger 5 found in nuclear SET domain-containing protein 2 (NSD2)
NM_133331.3 → NP_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:218 → 337

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:878 → 972

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:1012 → 1062

AWS; associated with SET domains

smart00317
Location:1063 → 1186

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

COG5034
Location:546 → 710

TNG2; Chromatin remodeling protein, contains PhD zinc finger [Chromatin structure and dynamics]

cd00084
Location:458 → 507

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:669 → 711

PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2

cd15651
Location:716 → 762

PHD2_NSD2; PHD finger 2 found in nuclear SET domain-containing protein 2 (NSD2)

cd15654
Location:763 → 816

PHD3_NSD2; PHD finger 3 found in nuclear SET domain-containing protein 2 (NSD2)

cd15657
Location:833 → 873

PHD4_NSD2; PHD finger 4 found in nuclear SET domain-containing protein 2 (NSD2)

cd15660
Location:1241 → 1283

PHD5_NSD2; PHD finger 5 found in nuclear SET domain-containing protein 2 (NSD2)
NM_133334.2 → NP_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:218 → 337

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:458 → 507

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 ...
NM_133335.4 → NP_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:218 → 337

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:878 → 972

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:1012 → 1062

AWS; associated with SET domains

smart00317
Location:1063 → 1186

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

COG5034
Location:546 → 710

TNG2; Chromatin remodeling protein, contains PhD zinc finger [Chromatin structure and dynamics]

cd00084
Location:458 → 507

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:669 → 711

PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2

cd15651
Location:716 → 762

PHD2_NSD2; PHD finger 2 found in nuclear SET domain-containing protein 2 (NSD2)

cd15654
Location:763 → 816

PHD3_NSD2; PHD finger 3 found in nuclear SET domain-containing protein 2 (NSD2)

cd15657
Location:833 → 873

PHD4_NSD2; PHD finger 4 found in nuclear SET domain-containing protein 2 (NSD2)

cd15660
Location:1241 → 1283

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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

1871393..1982192

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047416138.1 → XP_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
XM_047416141.1 → XP_047272097.1 histone-lysine N-methyltransferase NSD2 isoform X2
XM_047416137.1 → XP_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
XM_005248002.4 → XP_005248059.1 histone-lysine N-methyltransferase NSD2 isoform X2

Conserved Domains (10) summary

cd05837
Location:218 → 337

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:809 → 903

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:943 → 993

AWS; associated with SET domains

smart00317
Location:994 → 1117

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

cd00084
Location:458 → 507

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:600 → 642

PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2

cd15651
Location:647 → 693

PHD2_NSD2; PHD finger 2 found in nuclear SET domain-containing protein 2 (NSD2)

cd15654
Location:694 → 747

PHD3_NSD2; PHD finger 3 found in nuclear SET domain-containing protein 2 (NSD2)

cd15660
Location:1172 → 1214

PHD5_NSD2; PHD finger 5 found in nuclear SET domain-containing protein 2 (NSD2)

cl22851
Location:764 → 804

PHD_SF; PHD finger superfamily
XM_047416143.1 → XP_047272099.1 histone-lysine N-methyltransferase NSD2 isoform X3

Related

ENSP00000427516.2, ENST00000512700.2
XM_047416144.1 → XP_047272100.1 histone-lysine N-methyltransferase NSD2 isoform X4

Related

ENSP00000308780.6, ENST00000312087.10
XM_005248005.4 → XP_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:218 → 337

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:458 → 507

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 ...
XM_047416142.1 → XP_047272098.1 histone-lysine N-methyltransferase NSD2 isoform X2
XM_005248001.5 → XP_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:218 → 337

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:878 → 972

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:1012 → 1062

AWS; associated with SET domains

smart00317
Location:1063 → 1186

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

COG5034
Location:546 → 710

TNG2; Chromatin remodeling protein, contains PhD zinc finger [Chromatin structure and dynamics]

cd00084
Location:458 → 507

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:669 → 711

PHD1_NSD1_2; PHD finger 1 found in nuclear receptor-binding SET domain-containing protein NSD1 and NSD2

cd15651
Location:716 → 762

PHD2_NSD2; PHD finger 2 found in nuclear SET domain-containing protein 2 (NSD2)

cd15654
Location:763 → 816

PHD3_NSD2; PHD finger 3 found in nuclear SET domain-containing protein 2 (NSD2)

cd15657
Location:833 → 873

PHD4_NSD2; PHD finger 4 found in nuclear SET domain-containing protein 2 (NSD2)

cd15660
Location:1241 → 1283

PHD5_NSD2; PHD finger 5 found in nuclear SET domain-containing protein 2 (NSD2)
XM_047416139.1 → XP_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
XM_011513560.3 → XP_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:97 → 191

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:231 → 281

AWS; associated with SET domains

smart00317
Location:282 → 405

SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

cl22851
Location:460 → 502

PHD_SF; PHD finger superfamily

Alternate T2T-CHM13v2.0

Genomic

NC_060928.1 Alternate T2T-CHM13v2.0

Range

1869868..1980701

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054350799.1 → XP_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
XM_054350804.1 → XP_054206779.1 histone-lysine N-methyltransferase NSD2 isoform X2
XM_054350798.1 → XP_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
XM_054350802.1 → XP_054206777.1 histone-lysine N-methyltransferase NSD2 isoform X2
XM_054350803.1 → XP_054206778.1 histone-lysine N-methyltransferase NSD2 isoform X2
XM_054350806.1 → XP_054206781.1 histone-lysine N-methyltransferase NSD2 isoform X3
XM_054350808.1 → XP_054206783.1 histone-lysine N-methyltransferase NSD2 isoform X4
XM_054350807.1 → XP_054206782.1 histone-lysine N-methyltransferase NSD2 isoform X4
XM_054350805.1 → XP_054206780.1 histone-lysine N-methyltransferase NSD2 isoform X2
XM_054350800.1 → XP_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
XM_054350801.1 → XP_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
XM_054350809.1 → XP_054206784.1 histone-lysine N-methyltransferase NSD2 isoform X5

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_014919.1: Suppressed sequence

Description

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

Description

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

Description

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