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This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]
KDM2B (Lysine Demethylase 2B) is a Protein Coding gene. Diseases associated with KDM2B include Cohen Syndrome and West Syndrome. Among its related pathways are Chromatin Regulation / Acetylation and Chromatin organization. Gene Ontology (GO) annotations related to this gene include rRNA binding and histone demethylase activity. An important paralog of this gene is KDM2A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
GO:0003677 | DNA binding | NAS | -- |
GO:0003712 | transcription coregulator activity | IBA | 21873635 |
GO:0003723 | RNA binding | IEA | -- |
GO:0005515 | protein binding | IPI | 16943429 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | IBA | -- |
GO:0005634 | nucleus | NAS | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005694 | chromosome | IEA | -- |
GO:0005730 | nucleolus | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Chromatin organization | ||
2 | Chromatin Regulation / Acetylation | ||
3 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | ISS | -- |
GO:0006325 | chromatin organization | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0006482 | protein demethylation | IBA | 21873635 |
GO:0007283 | spermatogenesis | ISS | -- |
Compound | Action | Cas Number |
---|---|---|
IOX 1 | 5852-78-8 | |
ML324 | JMJD2 demethylase inhibitor, potent and cell-permeable | 1222800-79-4 |
SP2509 | Demethylase 1 (LSD1) antagonist, novel Lysine-specific | 1423715-09-6 |
Tranylcypromine hydrochloride | 1986-47-6 |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13a | · | 13b | · | 13c | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | - |
ExUns: | 17b | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21a | · | 21b | ^ | 22 | ^ | 23a | · | 23b | · | 23c | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27a | · | 27b | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31a | · | 31b | ^ | 32a | · | 32b | · | 32c | · | 32d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP11: | |||||||||||||||||||||||||||||||||||||||||||||||
SP12: | |||||||||||||||||||||||||||||||||||||||||||||||
SP13: | |||||||||||||||||||||||||||||||||||||||||||||||
SP14: | |||||||||||||||||||||||||||||||||||||||||||||||
SP15: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KDM2B 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KDM2B 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KDM2B 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kdm2b 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Kdm2b 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | KDM2B 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KDM2B 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KDM2B 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kdm2b 30 |
|
||
Str.8397 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.7069 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | kdm2bb 31 |
|
OneToMany | |
kdm2ba 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Kdm2 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | jhdm-1 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | JHD1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs188008973 | Benign: not provided | 121,574,540(-) |
G/A NM_032590.5(KDM2B):c.397+7C>T |
INTRON | |
rs191586330 | Likely Benign: not provided | 121,580,856(-) |
T/C NM_032590.5(KDM2B):c.56A>G (p.His19Arg) |
MISSENSE | |
rs201080343 | Benign: not provided | 121,442,267(-) |
G/A NM_032590.5(KDM2B):c.3174C>T (p.Asp1058=) |
SYNONYMOUS | |
rs201154323 | Benign: not provided | 121,509,888(-) |
G/A NM_032590.5(KDM2B):c.1326C>T (p.Gly442=) |
SYNONYMOUS | |
rs34606562 | Benign: not provided | 121,440,904(-) |
C/A NM_032590.5(KDM2B):c.3522G>T (p.Leu1174=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1005547 | CNV | loss | 20482838 |
esv1005622 | CNV | insertion | 20482838 |
esv3440505 | CNV | duplication | 20981092 |
esv3549895 | CNV | deletion | 23714750 |
esv3630948 | CNV | loss | 21293372 |
nsv1053272 | CNV | gain | 25217958 |
nsv1069705 | CNV | deletion | 25765185 |
nsv1070134 | CNV | deletion | 25765185 |
nsv1071061 | CNV | deletion | 25765185 |
nsv1112620 | CNV | deletion | 24896259 |
nsv1122773 | CNV | deletion | 24896259 |
nsv1143713 | CNV | deletion | 24896259 |
nsv1143714 | CNV | deletion | 24896259 |
nsv471846 | CNV | novel sequence insertion | 20440878 |
nsv509483 | CNV | insertion | 20534489 |
nsv560457 | CNV | loss | 21841781 |
nsv909 | CNV | insertion | 18451855 |
nsv952495 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cohen syndrome |
|
|
west syndrome |
|
|
microcephaly |
|
|
microphthalmia, syndromic 2 |
|
|
exencephaly |
|
|