• Gene id: 23135

Gene Summary

• Gene Symbol: KDM6B   Gene   UCSC   Ensembl
• Aliases: JMJD3, NEDCFSA
• Gene name: lysine demethylase 6B
• Alternate names: lysine-specific demethylase 6B, jmjC domain-containing protein 3, jumonji domain containing 3, histone lysine demethylase, jumonji domain-containing protein 3, lysine (K)-specific demethylase 6B,
• Gene location: 17p13.1 (119018342: 119015716)     Exons: 5     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 611577

Protein Summary

• Protein general information: O15054  
  • Name: Lysine specific demethylase 6B (EC 1.14.11. ) (JmjC domain containing protein 3) (Jumonji domain containing protein 3) (Lysine demethylase 6B)
  • Length: 1643  
  • Mass: 176632
• Sequence:

  MHRAVDPPGARAAREAFALGGLSCAGAWSSCPPHPPPRSAWLPGGRCSASIGQPPLPAPLPPSHGSSSGHPSKPY
  YAPGAPTPRPLHGKLESLHGCVQALLREPAQPGLWEQLGQLYESEHDSEEATRCYHSALRYGGSFAELGPRIGRL
  QQAQLWNFHTGSCQHRAKVLPPLEQVWNLLHLEHKRNYGAKRGGPPVKRAAEPPVVQPVPPAALSGPSGEEGLSP
  GGKRRRGCNSEQTGLPPGLPLPPPPLPPPPPPPPPPPPPLPGLATSPPFQLTKPGLWSTLHGDAWGPERKGSAPP
  ERQEQRHSLPHPYPYPAPAYTAHPPGHRLVPAAPPGPGPRPPGAESHGCLPATRPPGSDLRESRVQRSRMDSSVS
  PAATTACVPYAPSRPPGLPGTTTSSSSSSSSNTGLRGVEPNPGIPGADHYQTPALEVSHHGRLGPSAHSSRKPFL
  GAPAATPHLSLPPGPSSPPPPPCPRLLRPPPPPAWLKGPACRAAREDGEILEELFFGTEGPPRPAPPPLPHREGF
  LGPPASRFSVGTQDSHTPPTPPTPTTSSSNSNSGSHSSSPAGPVSFPPPPYLARSIDPLPRPPSPAQNPQDPPLV
  PLTLALPPAPPSSCHQNTSGSFRRPESPRPRVSFPKTPEVGPGPPPGPLSKAPQPVPPGVGELPARGPRLFDFPP
  TPLEDQFEEPAEFKILPDGLANIMKMLDESIRKEEEQQQHEAGVAPQPPLKEPFASLQSPFPTDTAPTTTAPAVA
  VTTTTTTTTTTTATQEEEKKPPPALPPPPPLAKFPPPSQPQPPPPPPPSPASLLKSLASVLEGQKYCYRGTGAAV
  STRPGPLPTTQYSPGPPSGATALPPTSAAPSAQGSPQPSASSSSQFSTSGGPWARERRAGEEPVPGPMTPTQPPP
  PLSLPPARSESEVLEEISRACETLVERVGRSATDPADPVDTAEPADSGTERLLPPAQAKEEAGGVAAVSGSCKRR
  QKEHQKEHRRHRRACKDSVGRRPREGRAKAKAKVPKEKSRRVLGNLDLQSEEIQGREKSRPDLGGASKAKPPTAP
  APPSAPAPSAQPTPPSASVPGKKAREEAPGPPGVSRADMLKLRSLSEGPPKELKIRLIKVESGDKETFIASEVEE
  RRLRMADLTISHCAADVVRASRNAKVKGKFRESYLSPAQSVKPKINTEEKLPREKLNPPTPSIYLESKRDAFSPV
  LLQFCTDPRNPITVIRGLAGSLRLNLGLFSTKTLVEASGEHTVEVRTQVQQPSDENWDLTGTRQIWPCESSRSHT
  TIAKYAQYQASSFQESLQEEKESEDEESEEPDSTTGTPPSSAPDPKNHHIIKFGTNIDLSDAKRWKPQLQELLKL
  PAFMRVTSTGNMLSHVGHTILGMNTVQLYMKVPGSRTPGHQENNNFCSVNINIGPGDCEWFAVHEHYWETISAFC
  DRHGVDYLTGSWWPILDDLYASNIPVYRFVQRPGDLVWINAGTVHWVQATGWCNNIAWNVGPLTAYQYQLALERY
  EWNEVKNVKSIVPMIHVSWNVARTVKISDPDLFKMIKFCLLQSMKHCQVQRESLVRAGKKIAYQGRVKDEPAYYC
  NECDVEVFNILFVTSENGSRNTYLVHCEGCARRRSAGLQGVVVLEQYRTEELAQAYDAFTLAPASTSR

• Structural information:
  • Protein Domains: (1339..150-)
    (/note="JmjC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00538"-)
  • Interpro: IPR003347  IPR029518  
  • Prosite: PS51184
  • PDB: 2XUE 2XXZ 4ASK 5FP3 5OY3 6F6D
  • PDBsum: 2XUE 2XXZ 4ASK 5FP3 5OY3 6F6D
  • DIP: 59912
  • STRING: ENSP00000254846
• Other Databases: GeneCards:  KDM6B  Malacards:  KDM6B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0031490	chromatin DNA binding	IBA	molecular function
GO:0000790	nuclear chromatin	IBA	cellular component
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0044666	MLL3/4 complex	IBA	cellular component
GO:0071558	histone demethylase activity (H3-K27 specific)	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0003682	chromatin binding	IBA	molecular function
GO:0071558	histone demethylase activity (H3-K27 specific)	IMP	molecular function
GO:0006338	chromatin remodeling	ISS	biological process
GO:0071557	histone H3-K27 demethylation	IMP	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0071558	histone demethylase activity (H3-K27 specific)	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0071557	histone H3-K27 demethylation	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006954	inflammatory response	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0071558	histone demethylase activity (H3-K27 specific)	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0071558	histone demethylase activity (H3-K27 specific)	IEA	molecular function
GO:0048333	mesodermal cell differentiation	IEA	biological process
GO:0045165	cell fate commitment	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0016577	histone demethylation	IEA	biological process
GO:0008013	beta-catenin binding	IEA	molecular function
GO:0060992	response to fungicide	IEA	biological process
GO:0021766	hippocampus development	IEA	biological process
GO:0014823	response to activity	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0002437	inflammatory response to antigenic stimulus	IEA	biological process
GO:0120162	positive regulation of cold-induced thermogenesis	IEA	biological process
GO:0071557	histone H3-K27 demethylation	IEA	biological process
GO:0070301	cellular response to hydrogen peroxide	IEA	biological process
GO:0055007	cardiac muscle cell differentiation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045446	endothelial cell differentiation	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0006338	chromatin remodeling	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0048333	mesodermal cell differentiation	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0045446	endothelial cell differentiation	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0055007	cardiac muscle cell differentiation	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process

Diseases

Associated diseases	References
Breast carcinoma	PMID:23152497
renal cell carcinoma	PMID:23057811
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq