NSD2 - nuclear receptor binding SET domain protein 2 Gene

Also Known as WHS; TRX5; KMT3F; KMT3G; MMSET; RAUST; WHSC1; REIIBP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7468

About NSD2

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:1,871,393-1,982,192 (from NCBI)

This gene has 31 transcripts (splice variants), 246 orthologues, 19 paralogues and is associated with 88 phenotypes. Broad expression in testis (RPKM 9.1), bone marrow (RPKM 6.6) and 25 other tissues.

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]

NSD2 Products (6)

mRNA	Protein	Name
NM_001042424.3	NP_001035889.1	histone-lysine N-methyltransferase NSD2 isoform 1
NM_007331.2	NP_015627.1	histone-lysine N-methyltransferase NSD2 isoform 4
NM_133330.3	NP_579877.1	histone-lysine N-methyltransferase NSD2 isoform 1
NM_133331.3	NP_579878.1	histone-lysine N-methyltransferase NSD2 isoform 1
NM_133334.2	NP_579889.1	histone-lysine N-methyltransferase NSD2 isoform 3
NM_133335.4	NP_579890.1	histone-lysine N-methyltransferase NSD2 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables histone H3K36 methyltransferase activity	IMP IMP: Inferred from mutant phenotype	24595546	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19481544	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NSD2 Protein Structure

PWWP

HMG_box

PHD

PWWP

SET

0
300
600
900
1200
1365 a.a.

Protein Preferred Names	Protein Names
histone-lysine N-methyltransferase NSD2	IL5 promoter REII region-binding protein

NSD2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NSD2	O96028	HORMAD2	Homo sapiens	Q8N7B1	Validated Y2H	32296183
Intra	NSD2	O96028	AR	Homo sapiens	P10275	Y2H	19481544
Intra	NSD2	O96028	AR	Homo sapiens	P10275	Pull Down	19481544
Intra	NSD2	O96028	PLEKHF2	Homo sapiens	Q9H8W4	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

NSD2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P87049	REIIBP/NSD2 Antibody (YA6742)	WB, IHC-P	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Rauch-Steindl Syndrome	RAUST
Wolf-Hirschhorn Syndrome	Pitt-Rogers-Danks Syndrome WHS Chromosome 4p16.3 Deletion Syndrome Wittwer Syndrome 4p- Syndrome Pitt Syndrome 4p Deletion Syndrome Distal Deletion 4p Distal Monosomy 4p Telomeric Deletion 4p Prds 4p Syndrome Chromosome 4p Syndrome Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation Wolf Syndrome Chromosome 4p Deletion Syndrome Chromosome 4p Monosomy Del Syndrome Monosomy 4p Partial Monosomy 4p Chromosome 4 Short Arm Deletion
Chromosome 4p Deletion	4p Partial Monosomy Syndrome Chromosome 4 Short Arm Deletion 4p Deletion 4p Monosomy Deletion 4p Monosomy 4p Partial Monosomy 4p Wolf-Hirschhorn Syndrome Chromosome 4 Short Arm Deletion Syndrome Deletion Of Short Arm Of Chromosome 4
Syndromic Intellectual Disability
Monoclonal Gammopathy Of Uncertain Significance	Monoclonal Gammopathy Of Undetermined Significance Mgus Mgus - [Monoclonal Gammopathy Of Undetermined Significance] Monoclonal Gammopathy Nos Iga Gammopathy Monoclonal Gammoglobulinopathy
Intellectual Developmental Disorder, Autosomal Dominant 1	MRD1 Autosomal Dominant Non-Syndromic Intellectual Disability 1 Mental Retardation, Autosomal Dominant 1 Autosomal Dominant Intellectual Developmental Disorder 1
Blood Protein Disease	Blood Protein Disorders Blood Protein Disorder
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Eec Syndrome Rudiger Syndrome 1 Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1 EEC1 Eec Syndrome 1 Eec Syndrome-1 Walker-Clodius Syndrome Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome Eec Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Ectrodactyly-Cleft Lip/Palate Syndrome Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Cleft Palate Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome Ectrodactyly-Cleft Lip-Palate Syndrome Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome
Smoldering Myeloma
Subglottis Benign Neoplasm	Subglottic Tumor
Myeloma, Multiple	Multiple Myeloma Plasma Cell Myeloma Kahler Disease Myelomatosis Medullary Plasmacytoma Multiple Myeloma, Resistance To Myeloma Plasma Cell Dyscrasia Kahler'S Disease Multiple Myeloma, Susceptibility To Myeloma - Multiple Kahler-Bozzolo Disease Plasma Cell Myelomas MM Plasma Cell Neoplasm Primary Systemic Amyloidosis Primary Amyloidosis Immunoglobulin Deposition Disease Plasmacytic Myeloma Multiple Myelomata Multiple Myeloma Nos Multiple Myeloma Without Mention Of Remission Monostotic Plasma Cell Myeloma Mm - [Multiple Myeloma]
Plasma Cell Leukemia	Plasma Cell Leukaemia Leukemia, Plasma Cell Plasmacytic Leukaemia Plasmacytic Leukemia Pcl Plasma Cell Leukaemia, Nos Leukemic Plasma Cell Plasma Cell Leukaemia Without Mention Of Remission
Sotos Syndrome	Cerebral Gigantism SOTOS Chromosome 5q35 Deletion Syndrome Sotos Syndrome 1, Formerly Sotos1, Formerly Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development Sotos Sequence Sotos' Syndrome Sotos1 Sotos Syndrome 1
Chromosomal Deletion Syndrome
Laryngeal Benign Neoplasm	Laryngeal Tumor Larynx Neoplasm Neoplasm Of Larynx Laryngeal Cancer Laryngeal Carcinoma Cancer Of Larynx
Male Urethral Cancer	Male Urethral Malignant Neoplasm
Bone Disease	Bone Diseases Skeletal Disease Skeletal Disorder Disorder Of Skeletal System
Sweeney-Cox Syndrome	SWCOS
Weaver Syndrome	Wss Weaver-Smith Syndrome WVS Weaver-Like Syndrome Weaver-Williams Syndrome Camptodactyly-Overgrowth-Unusual Facies Syndrome Camptodactyly - Overgrowth - Unusual Facies Ezh2 Related Overgrowth Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly Weaver Smith Syndrome Weaver Like Syndrome Weaver Williams Syndrome Camptodactyly-Overgrowth-Unusual Facies Weaver Syndrome 1 Weaver Syndrome 2 Wvs1 Wvs2
Bone Marrow Cancer	Malignant Neoplasm Of Bone Marrow Bone Marrow Neoplasm Bone Marrow Tumor Malignant Bone Marrow Tumor Myeloproliferative Disorders Bone Marrow Neoplasms Myeloproliferative Disease Chronic Myeloproliferative Disorder
Kabuki Syndrome 1	Kabuki Syndrome Niikawa-Kuroki Syndrome Kabuki Make-Up Syndrome Kms KABUK1 Kabuki Make Up Syndrome Nks Kabuki Makeup Syndrome Kabuki Syndrome, Type 1
Chromosomal Disease	Chromosomal Disorders Congenital Chromosomal Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (48)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-154812	Gintemetostat	Inhibitor	99.81%	Unkown
HY-100034	NSC 663284	Inhibitor	99.29%	Unkown
HY-161574	LLC0424	Inhibitor	98.41%	Unkown
HY-114208A	BI-9321 trihydrochloride	Antagonist	99.83%	Unkown
HY-157251	UNC8153 TFA	Degrader	99.92%	Unkown
HY-145103	UNC6934	Antagonist	98.24%	Unkown
HY-114340	LEM-14		98.02%	Unkown
HY-138283	MR837	Inhibitor	99.65%	Unkown
HY-151101	MS159	Degrader	99.38%	Unkown
HY-168035	W4275	Inhibitor	98.93%	Unkown
HY-147914	NSD2-IN-1	Inducer	98.72%	Unkown
HY-162308	NSD-IN-3		98.0%	Unkown
HY-171119	NSD2-PWWP1-IN-1	Inhibitor	98.72%	Unkown
HY-125244	LEM-14-1189	Inhibitor	99.76%	Unkown
HY-171120	NSD2-PWWP1-IN-2	Inhibitor	99.64%	Unkown
HY-171121	NSD2-PWWP1-IN-3	Inhibitor	99.63%	Unkown
HY-138993A	NNMT-IN-6 hydrochloride	Inhibitor	99.75%	Unkown
HY-15647	BRD9539	Inhibitor	99.73%	Unkown
HY-157251A	UNC8153	Degrader	99.61%	Unkown
HY-161575	NSD2 ligand 1		99.76%	Unkown
HY-161796	UNC8732		/	Unkown
HY-161796A	UNC8732 TFA	Inhibitor	99.07%	Unkown
HY-177499	NSD2-IN-5	Inhibitor	98.68%	Unkown
HY-185557	LLC0424N		/	Unkown
HY-W1005059	N-Methylthalidomide		98.0%	Unkown
HY-178321	UNC10088	Degrader	/	Unkown
HY-114208	BI-9321	Antagonist	/	Unkown
HY-124699	MMSET-IN-1	Inhibitor	/	Unkown
HY-138993	NNMT-IN-6	Inhibitor	/	Unkown
HY-155817	UNC7096	Chemical	/	Unkown
HY-155818	NSD2-IN-4	Inhibitor	/	Unkown
HY-161576	Thalidomide-Pip-N-boc		/	Unkown
HY-161670	NSD2-PWWP1 ligand 1	Inhibitor	/	Unkown
HY-170674	ND-L11B free base	Degrader	/	Unkown
HY-170674A	ND-L11B TFA	Degrader	/	Unkown
HY-172614	RK-0080552		/	Unkown
HY-175871	(Rac)-NSD2-PWWP1-IN-4	Inhibitor	/	Unkown
HY-177400	NSD-IN-5	Inhibitor	/	Unkown
HY-178322	UNC10415667	Degrader	/	Unkown
HY-179427	NSD2/H3K36me2 modulator-1		/	Unkown
HY-179650	NSD2-PWWP1-IN-5		/	Unkown
HY-179651	NSD2-PWWP1-IN-6	Inhibitor	/	Unkown
HY-180553	NSD2-IN-6	Inhibitor	/	Unkown
HY-182486	LEM-06	Inhibitor	/	Unkown
HY-RS09588	NSD2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-48149	NSD2 ligand 2	Degrader	98.75%	Unkown
HY-RS16731	Nsd2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23167	Nsd2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	NSD2	VGNC	VGNC:107380
Bos taurus	NSD2	VGNC	VGNC:32272
Macaca mulatta	NSD2	VGNC	VGNC:100258
Canis familiaris	NSD2	VGNC	VGNC:43981
Mus musculus	NSD2	MGD	MGI:1276574
Rattus norvegicus	NSD2	RGD	RGD:1307955
Others	NSD2	NCBI