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KDM6A (lysine (K)-specific demethylase 6A)

Identity

Other namesKABUK2
UTX
bA386N14.2
HGNC (Hugo) KDM6A
LocusID (NCBI) 7403
Location Xp11.3
Location_base_pair Starts at 44732421 and ends at 44971857 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

External links

Nomenclature
HGNC (Hugo)KDM6A   12637
Cards
Entrez_Gene (NCBI)KDM6A  7403  lysine (K)-specific demethylase 6A
GeneCards (Weizmann)KDM6A
Ensembl (Hinxton)ENSG00000147050 [Gene_View]  chrX:44732421-44971857 [Contig_View]  KDM6A [Vega]
ICGC DataPortalENSG00000147050
cBioPortalKDM6A
AceView (NCBI)KDM6A
Genatlas (Paris)KDM6A
WikiGenes7403
SOURCE (Princeton)NM_001291415 NM_001291416 NM_001291417 NM_001291418 NM_001291421 NM_021140
Genomic and cartography
GoldenPath (UCSC)KDM6A  -  Xp11.3   chrX:44732421-44971857 +  Xp11.3   [Description]    (hg19-Feb_2009)
EnsemblKDM6A - Xp11.3 [CytoView]
Mapping of homologs : NCBIKDM6A [Mapview]
OMIM147920   300128   300867   
Gene and transcription
Genbank (Entrez)AB208795 AF000992 AF000993 AI364446 AK294456
RefSeq transcript (Entrez)NM_001291415 NM_001291416 NM_001291417 NM_001291418 NM_001291421 NM_021140
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_016260 NT_079573 NW_001842361 NW_004929439
Consensus coding sequences : CCDS (NCBI)KDM6A
Cluster EST : UnigeneHs.522616 [ NCBI ]
CGAP (NCI)Hs.522616
Alternative Splicing : Fast-db (Paris)GSHG0031477
Alternative Splicing GalleryENSG00000147050
Gene ExpressionKDM6A [ NCBI-GEO ]     KDM6A [ SEEK ]   KDM6A [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15550 (Uniprot)
NextProtO15550  [Medical]
With graphics : InterProO15550
Splice isoforms : SwissVarO15550 (Swissvar)
Catalytic activity : Enzyme1.14.11.- [ Enzyme-Expasy ]   1.14.11.-1.14.11.- [ IntEnz-EBI ]   1.14.11.- [ BRENDA ]   1.14.11.- [ KEGG ]   
Domaine pattern : Prosite (Expaxy)JMJC (PS51184)    TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (EBI)JmjC_dom [organisation]   TPR-contain_dom [organisation]   TPR-like_helical [organisation]   TPR_1 [organisation]   TPR_repeat [organisation]  
Related proteins : CluSTrO15550
Domain families : Pfam (Sanger)JmjC (PF02373)    TPR_1 (PF00515)    TPR_8 (PF13181)   
Domain families : Pfam (NCBI)pfam02373    pfam00515    pfam13181   
Domain families : Smart (EMBL)JmjC (SM00558)  TPR (SM00028)  
DMDM Disease mutations7403
Blocks (Seattle)O15550
PDB (SRS)3AVR    3AVS   
PDB (PDBSum)3AVR    3AVS   
PDB (IMB)3AVR    3AVS   
PDB (RSDB)3AVR    3AVS   
Human Protein AtlasENSG00000147050 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasO15550
HPRD02131
IPIIPI01012755   IPI00007362   IPI00384086   IPI00645700   IPI01019093   IPI01014377   IPI00644732   IPI01009497   IPI00643262   
Protein Interaction databases
DIP (DOE-UCLA)O15550
IntAct (EBI)O15550
FunCoupENSG00000147050
BioGRIDKDM6A
InParanoidO15550
Interologous Interaction database O15550
IntegromeDBKDM6A
STRING (EMBL)KDM6A
Ontologies - Pathways
Ontology : AmiGORNA polymerase II core promoter proximal region sequence-specific DNA binding  in utero embryonic development  neural tube closure  respiratory system process  nucleus  heart development  somite rostral/caudal axis specification  histone methyltransferase complex  metal ion binding  mesodermal cell differentiation  notochord morphogenesis  dioxygenase activity  histone H3-K4 methylation  oxidation-reduction process  canonical Wnt signaling pathway  histone H3-K27 demethylation  histone demethylase activity (H3-K27 specific)  
Ontology : EGO-EBIRNA polymerase II core promoter proximal region sequence-specific DNA binding  in utero embryonic development  neural tube closure  respiratory system process  nucleus  heart development  somite rostral/caudal axis specification  histone methyltransferase complex  metal ion binding  mesodermal cell differentiation  notochord morphogenesis  dioxygenase activity  histone H3-K4 methylation  oxidation-reduction process  canonical Wnt signaling pathway  histone H3-K27 demethylation  histone demethylase activity (H3-K27 specific)  
Pathways : KEGGTranscriptional misregulation in cancer   
Protein Interaction DatabaseKDM6A
Wikipedia pathwaysKDM6A
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)KDM6A
snp3D : Map Gene to Disease7403
SNP (GeneSNP Utah)KDM6A
SNP : HGBaseKDM6A
Genetic variants : HAPMAPKDM6A
Exome VariantKDM6A
1000_GenomesKDM6A 
ICGC programENSG00000147050 
Cancer Gene: CensusKDM6A 
Somatic Mutations in Cancer : COSMICKDM6A 
CONAN: Copy Number AnalysisKDM6A 
Mutations and Diseases : HGMDKDM6A
Genomic VariantsKDM6A  KDM6A [DGVbeta]
dbVarKDM6A
ClinVarKDM6A
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM147920    300128    300867   
MedgenKDM6A
GENETestsKDM6A
Disease Genetic AssociationKDM6A
Huge Navigator KDM6A [HugePedia]  KDM6A [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneKDM6A
Homology/Alignments : Family Browser (UCSC)KDM6A
Phylogenetic Trees/Animal Genes : TreeFamKDM6A
Chemical/Protein Interactions : CTD7403
Chemical/Pharm GKB GenePA37262
Drug Sensitivity KDM6A
Clinical trialKDM6A
Cancer Resource (Charite)ENSG00000147050
Other databases
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
CoreMineKDM6A
iHOPKDM6A
OncoSearchKDM6A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 30 14:00:56 CEST 2014

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