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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 (Lysine Demethylase 6B) is a Protein Coding gene. Diseases associated with KDM6B include Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities and Autism Spectrum Disorder. Among its related pathways are Chromatin organization and Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and dioxygenase activity. An important paralog of this gene is KDM6A.
Histone demethylases (KDMs) are a family of enzymes that catalyze the removal of methyl groups from lysine and arginine residues on histone tails. They reverse the methylation of lysine and arginine residues that is catalyzed by histone methyltransferases.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IBA | 21873635 |
GO:0003682 | chromatin binding | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 21841772 |
GO:0008013 | beta-catenin binding | IEA | -- |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | IBA | 21873635 |
GO:0005634 | nucleus | IEA,ISS | 23856522 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0044666 | MLL3/4 complex | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002437 | inflammatory response to antigenic stimulus | IEA | -- |
GO:0006325 | chromatin organization | IEA | -- |
GO:0006338 | chromatin remodeling | ISS | -- |
GO:0006954 | inflammatory response | IEA | -- |
GO:0010468 | regulation of gene expression | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Daminozide | Pharma | KDM2A inhibitor, Selective KDM2/7 inhibitor | 20 | |||
GSK J1 | Pharma | H3K27 demethylase JMJD3 inhibitor, Potent JMJD3/UTX inhibitor | 0 | |||
GSK J4 free base | Pharma | 0 | ||||
GSK J4 HCl | Pharma | Inhibitor of H3K27 demethylase JMJD3,potent and cell-permeable | 0 | |||
JIB-04 | Pharma | Jumonji histone demethylase inihibitor | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
GSK J4 |
|
1373423-53-0 |
|
|
Compound | Action | Cas Number |
---|---|---|
Daminozide | Selective KDM2/7 inhibitor | 1596-84-5 |
GSK J1 | Potent JMJD3/UTX inhibitor | 1373422-53-7 |
GSK J4 | Histone KDM inhibitor; cell permeable | 1373423-53-0 |
IOX 1 | Histone demethylase inhibitor; cell permeable | 5852-78-8 |
Tranylcypromine hydrochloride | Irreversible inhibitor of LSD1; also inhibits MAO | 1986-47-6 |
Compound | Action | Cas Number |
---|---|---|
Daminozide | KDM2A inhibitor | 1596-84-5 |
GSK J1 | H3K27 demethylase JMJD3 inhibitor | 1373422-53-7 |
GSK J4 free base | ||
GSK J4 HCl | Inhibitor of H3K27 demethylase JMJD3,potent and cell-permeable | 1373423-53-0 |
JIB-04 | Jumonji histone demethylase inihibitor | 199596-05-9 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KDM6B 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KDM6B 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KDM6B 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Kdm6b 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kdm6b 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | KDM6B 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KDM6B 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | KDM6B (2 of 2) 31 |
|
OneToMany | |
kdm6bb 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | jmjd-3.3 31 |
|
OneToMany | |
jmjd-3.1 31 |
|
OneToMany | |||
jmjd-3.2 31 |
|
OneToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CYC8 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
264772 | Uncertain Significance: not provided | 7,848,950(+) | C/T | MISSENSE_VARIANT | |
623261 | Uncertain Significance: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES; not provided | 7,849,617(+) | TAG/T | FRAMESHIFT_VARIANT | |
623267 | Uncertain Significance: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES; not provided | 7,847,275(+) | TAGAG/T | FRAMESHIFT_VARIANT | |
710640 | Likely Benign: not provided | 7,853,491(+) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
712117 | Likely Benign: not provided | 7,848,213(+) | C/T | MISSENSE_VARIANT |