KDM6B - lysine demethylase 6B Gene

Also Known as JMJD3; NEDCFSA

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 23135

About 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.

Summary

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 Products (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 Protein Structure

JmjC

JmjC: JmjC domain, hydroxylase (1377 - 1485)

  • 0
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  • 1500
  • 1643 a.a.
Protein Preferred Names Protein Names

lysine-specific demethylase 6B

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

KDM6B Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
KDM6B O15054 ESR1 Homo sapiens P03372 21841772
Cross: Cross-species interaction Intra: Intraspecies interaction

KDM6B 抗体

製品番号 製品名 アプリケーション 反応性
HY-P811304 JMJD3 Antibody WB, IHC-P, ICC/IF Human, Mouse, Rat

関連疾患

Diseases Alias
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

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

Orthologs Information

生物種 Symbol 由来 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