2. Gene
  3. KDM6B - lysine demethylase 6B Gene

KDM6B - lysine demethylase 6B Gene

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

中文名称：赖氨酸脱甲基酶 6B

种属: Homo sapiens

同用名: JMJD3; NEDCFSA

基因 ID: 23135 | 基因类型: protein coding

关于 KDM6B

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:7,834,217-7,854,796 (from NCBI)

This gene has 6 transcripts (splice variants), 249 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 9.0), appendix (RPKM 7.9) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种赖氨酸特异性去甲基化酶，可特异性地使组蛋白 H3 (H3K27me2 或 H3K27me3) 的二甲基化或三甲基化赖氨酸 27 去甲基化。 H3K27 三甲基化是一种抑制性表观遗传标记，可控制染色质组织和基因沉默。这种蛋白质还可以去甲基化非组蛋白，例如视网膜母细胞瘤蛋白。通过其去甲基化活性，该基因影响细胞分化和发育、肿瘤发生、炎症性疾病和神经退行性疾病。这种蛋白质在其 N 端有两个经典的核定位信号。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2017 年 2 月]

The protein encoded by this gene is a lysine-specific demethylase that specifically demethylates di- or tri-methylated lysine 27 of histone H3 (H3K27me2 or H3K27me3). H3K27 trimethylation is a repressive epigenetic MARK controlling chromatin organization and gene silencing. This protein can also demethylate non-histone proteins such as retinoblastoma protein. Through its demethylation actvity this gene influences cellular differentiation and development, tumorigenesis, inflammatory diseases, and neurodegenerative diseases. This protein has two classical nuclear localization signals at its N-terminus. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]

KDM6B 基因产物(2)

mRNA Protein Name
NM_001080424.2 NP_001073893.1 lysine-specific demethylase 6B isoform 1
NM_001348716.2 NP_001335645.1 lysine-specific demethylase 6B isoform 2

KDM6B 蛋白结构

JmjC

JmjC: JmjC domain, hydroxylase (1377 - 1485)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1643 a.a.
蛋白主名 其他名称

lysine-specific demethylase 6B

[histone H3]-trimethyl-L-lysine(27) demethylase 6B

KDM6B 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
种属内
KDM6B O15054 ESR1 Homo sapiens P03372
Anti Bait CoIP
21841772
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
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities

NEDCFSA
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
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
Brain Stem Cancer

Brain Stem Neoplasms

Malignant Neoplasm Of Brain Stem

Malignant Neoplasm Of Brainstem

Neoplasm Of Adult Brain Stem

Neoplasm Of Brain Stem

Primary Brain Stem Neoplasm

Primary Brain Stem Tumor

Brain Stem Neoplasm

Brain Stem--Cancer

Brain Stem Neoplasms, Primary
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
Histone Mutated Tumor

Histone Mutated Tumour
Diffuse Midline Glioma, H3 K27m-Mutant

Diffuse Intrinsic Pontine Glioma

Dipg

Infiltrative Brainstem Glioma
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
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 (10)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-15648B GSK-J4 99.64% 否
HY-12304 IOX1 Inhibitor 99.72% 否
HY-15648 GSK-J1 Inhibitor 99.94% 否
HY-15648F GSK-J4 hydrochloride Inhibitor 99.01% 否
HY-15648A GSK-J2 Control 99.76% 否
HY-100764 YUKA1 Inhibitor 99.56% 否
HY-15648G GSK-J1 sodium Inhibitor / 否
HY-15648I GSK-J2 sodium Inhibitor / 否
HY-RS07223 KDM6B Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-15648D GSK-J1 lithium salt Inhibitor 98.26% 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus KDM6B RGD RGD:1307629
Mus musculus KDM6B MGD MGI:2448492
Canis familiaris KDM6B VGNC VGNC:42329
Macaca mulatta KDM6B VGNC VGNC:73923
Bos taurus KDM6B VGNC VGNC:30532
Felis catus KDM6B VGNC VGNC:63073
Others KDM6B NCBI
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