2. Gene
  3. NSD2 - nuclear receptor binding SET domain protein 2 Gene

NSD2 - nuclear receptor binding SET domain protein 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：核受体结合 SET 结构域蛋白 2

种属: Homo sapiens

同用名: WHS; TRX5; KMT3F; KMT3G; MMSET; RAUST; WHSC1; REIIBP

基因 ID: 7468 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质包含其他发育蛋白中存在的四个结构域：PWWP 结构域、HMG 盒、SET 结构域和 PHD 型锌指。它在早期发育中无处不在。 Wolf-Hirschhorn 综合征 (WHS) 是一种与 4 号染色体远端短臂半合子缺失相关的畸形综合征。该基因映射到 165 kb WHS 关键区域，也参与了染色体易位 t (4;14) (p16.3;q32.3) 在多发性骨髓瘤中。该基因的可变剪接导致编码不同亚型的多个转录变体。一些转录变体是无义介导的 mRNA (NMD) 衰变候选者，因此不表示为参考序列。[RefSeq 提供，2008 年 7 月]

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 基因产物(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
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables histone H3K36 methyltransferase activity IMP
IMP: 通过突变表型推断
24595546 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19481544 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

NSD2 蛋白结构

PWWP

PWWP: PWWP domain (220 - 329)

HMG_box

HMG_box: HMG (high mobility group) box (457 - 506)

PHD

PHD: PHD-finger (833 - 874)

PWWP

PWWP: PWWP domain (880 - 967)

SET

SET: SET domain (1074 - 1180)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1365 a.a.
蛋白主名 其他名称

histone-lysine N-methyltransferase NSD2

IL5 promoter REII region-binding protein

NSD2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (24)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-100034 NSC 663284 Inhibitor 99.79% 否
HY-114208A BI-9321 trihydrochloride Antagonist 98.40% 否
HY-157251 UNC8153 TFA Inhibitor 99.92% 否
HY-138283 MR837 Inhibitor 99.82% 否
HY-151101 MS159 98.28% 否
HY-145103 UNC6934 Chemical 99.15% 否
HY-114340 LEM-14 Inhibitor 98.06% 否
HY-161574 LLC0424 Inhibitor 98.42% 否
HY-15647 BRD9539 Inhibitor 99.74% 否
HY-162308 NSD-IN-3 ≥98.0% 否
HY-161575 NSD2 ligand 1 99.76% 否
HY-125244 LEM-14-1189 Inhibitor / 否
HY-124699 MMSET-IN-1 Inhibitor / 否
HY-114208 BI-9321 Antagonist / 否
HY-147914 NSD2-IN-1 Inducer / 否
HY-155817 UNC7096 Chemical / 否
HY-155818 NSD2-IN-4 Inhibitor / 否
HY-161576 Thalidomide-Pip-N-boc / 否
HY-161670 NSD2-PWWP1 ligand 1 Inhibitor / 否
HY-161796 UNC8732 / 否
HY-161796A UNC8732 TFA / 否
HY-168035 W4275 Inhibitor / 否
HY-RS09588 NSD2 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-157251A UNC8153 Inhibitor / 否

直系同源

种属 基因名 来源 基因 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
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