KDM6B - lysine demethylase 6B Gene

Homo sapiens

Also known as JMJD3; NEDCFSA

Gene ID: 23135 | Gene type: protein coding

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

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

Bioactive Molecules (10)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-15648B	GSK-J4		99.64%	Unkown
HY-12304	IOX1	Inhibitor	99.72%	Unkown
HY-15648	GSK-J1	Inhibitor	99.94%	Unkown
HY-15648F	GSK-J4 hydrochloride	Inhibitor	98.83%	Unkown
HY-15648A	GSK-J2		99.76%	Unkown
HY-100764	YUKA1	Inhibitor	99.56%	Unkown
HY-15648G	GSK-J1 sodium	Inhibitor	/	Unkown
HY-15648I	GSK-J2 sodium		/	Unkown
HY-RS07223	KDM6B Human Pre-designed siRNA Set A		/	Unkown
HY-15648D	GSK-J1 lithium salt	Inhibitor	98.26%	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

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