NSD2 - nuclear receptor binding SET domain protein 2 Gene

Homo sapiens

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

Gene ID: 7468 | Gene type: protein coding

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

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

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

Bioactive Molecules (23)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-100034	NSC 663284	Inhibitor	99.79%	Unkown
HY-114208A	BI-9321 trihydrochloride	Antagonist	98.40%	Unkown
HY-151101	MS159		98.28%	Unkown
HY-157251	UNC8153 TFA	Inhibitor	99.91%	Unkown
HY-138283	MR837	Inhibitor	99.93%	Unkown
HY-145103	UNC6934	Chemical	99.15%	Unkown
HY-114340	LEM-14	Inhibitor	98.06%	Unkown
HY-15647	BRD9539	Inhibitor	99.74%	Unkown
HY-161574	LLC0424	Inhibitor	98.42%	Unkown
HY-162308	NSD-IN-3		≥98.0%	Unkown
HY-161575	NSD2 ligand 1	Inhibitor	99.76%	Unkown
HY-125244	LEM-14-1189	Inhibitor	/	Unkown
HY-124699	MMSET-IN-1	Inhibitor	/	Unkown
HY-114208	BI-9321	Antagonist	/	Unkown
HY-147914	NSD2-IN-1	Inducer	/	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-161796	UNC8732		/	Unkown
HY-168035	W4275	Inhibitor	/	Unkown
HY-RS09588	NSD2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-157251A	UNC8153	Inhibitor	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.