KDM6B - lysine demethylase 6B Gene

Also Known as JMJD3; NEDCFSA

Species: Homo sapiens

Gene Type: protein coding

Gene 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

0
300
600
900
1200
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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	KDM6B	O15054	ESR1	Homo sapiens	P03372	Anti Bait CoIP	21841772

Cross: Cross-species interaction Intra: Intraspecies interaction

KDM6B Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P811304	JMJD3 Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (14)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-15648B	GSK-J4		99.67%	Unkown
HY-12304	IOX1	Inhibitor	99.89%	Unkown
HY-15648F	GSK-J4 hydrochloride	Inhibitor	99.01%	Unkown
HY-15648	GSK-J1	Inhibitor	99.94%	Unkown
HY-15648A	GSK-J2	Control	99.75%	Unkown
HY-100764	YUKA1	Inhibitor	99.15%	Unkown
HY-N6896	Isoviolanthin	Inhibitor	99.87%	Unkown
HY-15648D	GSK-J1 lithium salt	Inhibitor	98.33%	Unkown
HY-RS07223	KDM6B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-15648G	GSK-J1 sodium	Inhibitor	/	Unkown
HY-15648I	GSK-J2 sodium	Inhibitor	/	Unkown
HY-183618	DW-229	Degrader	/	Unkown
HY-RS17203	Kdm6b Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23655	Kdm6b Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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