2. Gene
  3. JARID2 - jumonji and AT-rich interaction domain containing 2 Gene

JARID2 - jumonji and AT-rich interaction domain containing 2 Gene

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

中文名称：含 Jumonji 和 AT-rich 交互域 2

种属: Homo sapiens

同用名: JMJ; DIDDF

基因 ID: 3720 | 基因类型: protein coding

关于 JARID2

Cytogenetic location: 6p22.3 Genomic coordinates (GRCh38): 6:15,246,069-15,522,042 (from NCBI)

This gene has 3 transcripts (splice variants), 221 orthologues, 10 paralogues and is associated with 2 phenotypes. Broad expression in bone marrow (RPKM 19.2), testis (RPKM 12.2) and 23 other tissues.

功能概要

该基因编码含有 Jumonji 和 AT 丰富相互作用结构域 (ARID) 结构域的蛋白质。编码的蛋白质是一种 DNA 结合蛋白，起着转录抑制因子的作用。这种蛋白质与 Polycomb 抑制复合物 2 (PRC2) 相互作用，后者在胚胎发育过程中在调节基因表达方面起着重要作用。这种蛋白质有助于将 PRC2 复合物募集到靶基因。交替剪接导致多个转录本变体。该基因的突变与慢性骨髓性恶性肿瘤有关。[RefSeq 提供，2012 年 5 月]

This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein interacts with the Polycomb repressive complex 2 (PRC2) which plays an essential role in regulating gene expression during embryonic development. This protein facilitates the recruitment of the PRC2 complex to target genes. Alternate splicing results in multiple transcript variants. Mutations in this gene are associated with chronic myeloid malignancies. [provided by RefSeq, May 2012]

JARID2 基因产物(2)

mRNA Protein Name
NM_001267040.1 NP_001253969.1 protein Jumonji isoform 2
NM_004973.4 NP_004964.2 protein Jumonji isoform 1
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
20075857 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
20075857 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

JARID2 蛋白结构

JmjN

JmjN: jmjN domain (558 - 591)

ARID

ARID: ARID/BRIGHT DNA binding domain (619 - 709)

JmjC

JmjC: JmjC domain, hydroxylase (916 - 1031)

zf-C5HC2

zf-C5HC2: C5HC2 zinc finger (1139 - 1193)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1246 a.a.
蛋白主名 其他名称

protein Jumonji

jumonji homolog

JARID2 抗体

目录号 产品名 应用 反应物种
HY-P82265 Protein Jumonji Antibody (YA2010) WB, ICC/IF Human

关联疾病

疾病名称 别名
Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder
Autosomal Dominant Non-Syndromic Intellectual Disability
Tetralogy Of Fallot

TOF

Fallot Tetralogy

Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

Tetrad Of Fallot

Fallot Tetrad

Fallot Disease

Fallot Complex

Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

Interventricular Septal Defect, In Tetralogy Of Fallot

Ventricular Septal Defect With Obstructed Right Ventricular Outflow

Tof - [Tetralogy Of Fallot]

Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

Pulmonary Atresia, Ventricular Septal Defect And Mapcas

Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
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
Rhabdomyosarcoma
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
Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified
Double Outlet Right Ventricle

Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect

Taussig-Bing Syndrome

Dextrotransposition Of Aorta

Taussig-Bing Syndrome Or Defect

Dorv

Dorv With Subpulmonary Vsd

Dorv-Tga

Double Outlet Right Ventricle With Transposition Of The Great Arteries

Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type

Taussig-Bing Heart

Taussig-Bing Malformation

Taussig-Bing Complex

Taussig-Bing Defect

Taussig-Bing

Double Outlet Right Ventricle With Remote Ventricular Septal Defect

Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect

Double Outlet Right Ventricle With Non-Committed Interventricular Communication

Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis

Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS07030 JARID2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus JARID2 VGNC VGNC:30371
Canis familiaris JARID2 VGNC VGNC:42181
Rattus norvegicus JARID2 RGD RGD:1591663
Macaca mulatta JARID2 VGNC VGNC:73956
Felis catus JARID2 VGNC VGNC:67879
Mus musculus JARID2 MGD MGI:104813
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