Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KDM6A Gene

protein-coding   GIFtS: 58
GCID: GC0XP044732

Lysine (K)-Specific Demethylase 6A

(Previous names: ubiquitously transcribed tetratricopeptide repeat, X chromosome)
(Previous symbol: UTX)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Lysine (K)-Specific Demethylase 6A1 2     BA386N14.2 (Ubiquitously Transcribed X Chromosome Tetratricopeptide Repeat
Protein (UTX))2
UTX1 2 3 5     Lysine-Specific Demethylase 6A2
Histone Demethylase UTX2 3     Ubiquitously Transcribed Tetratricopeptide Repeat Protein X-Linked2
Ubiquitously-Transcribed TPR Protein On The X Chromosome2 3     Ubiquitously-Transcribed TPR Gene On The X Chromosome2
Ubiquitously Transcribed Tetratricopeptide Repeat, X Chromosome1     EC 1.14.11.-3
KABUK22     Ubiquitously-Transcribed X Chromosome Tetratricopeptide Repeat Protein3
bA386N14.22     EC 1.14.118

External Ids:    HGNC: 126371   Entrez Gene: 74032   Ensembl: ENSG000001470507   OMIM: 3001285   UniProtKB: O155503   

Export aliases for KDM6A gene to outside databases

Previous GC identifers: GC0XP044619 GC0XP042453


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KDM6A Gene:
This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a
tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the
demethylation of tri/dimethylated histone H3. (provided by RefSeq, Nov 2009)

GeneCards Summary for KDM6A Gene: 
KDM6A (lysine (K)-specific demethylase 6A) is a protein-coding gene. Diseases associated with KDM6A include keratitis, and dwarfism. GO annotations related to this gene include oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen and metal ion binding. An important paralog of this gene is KDM6B.

UniProtKB/Swiss-Prot: KDM6A_HUMAN, O15550
Function: Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central
role in histone code. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-27'. Plays a
central role in regulation of posterior development, by regulating HOX gene expression. Demethylation of 'Lys-27'
of histone H3 is concomitant with methylation of 'Lys-4' of histone H3, and regulates the recruitment of the PRC1
complex and monoubiquitination of histone H2A

Gene Wiki entry for KDM6A (UTX) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_079573.4  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KDM6A gene promoter:
         E2F-3a   E2F-4   E2F-5   Spz1   AP-1   E2F-2   E4BP4   YY1   E2F-1   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKDM6A promoter sequence
   Search SABiosciences Chromatin IP Primers for KDM6A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KDM6A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.2   Ensembl cytogenetic band:  Xp11.3   HGNC cytogenetic band: Xp11.2

KDM6A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KDM6A gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP044732:  view genomic region     (about GC identifiers)

Start:
44,732,423 bp from pter      End:
44,971,847 bp from pter
Size:
239,425 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KDM6A_HUMAN, O15550 (See protein sequence)
Recommended Name: Lysine-specific demethylase 6A  
Size: 1401 amino acids; 154177 Da
Cofactor: Ascorbate
Cofactor: Fe(2+)
Subunit: Interacts with TLE1 (By similarity). Component of the MLL2/3 complex (also named ASCOM complex), at least
composed of KMT2D/MLL2 or KMT2C/MLL3, ASH2L, RBBP5, WDR5, NCOA6, DPY30, KDM6A (or KDM6B), PAXIP1/PTIP, PAGR1 and
alpha- and beta-tubulin
Subcellular location: Nucleus (Probable)
Miscellaneous: Escapes X chromosome inactivation
2 PDB 3D structures from and Proteopedia for KDM6A:
3AVR (3D)        3AVS (3D)    
Secondary accessions: Q52LL9 Q5JVQ7

Explore the universe of human proteins at neXtProt for KDM6A: NX_O15550

Explore proteomics data for KDM6A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O15550

  • 4/16 DME Specific Peptides for KDM6A (O15550) (see all 16)
     YQRYYSLQ  IGKVQDAF  ASSPSSAIST  GTCDKVNNIHP 

    KDM6A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KDM6A Protein Expression
    REFSEQ proteins: NP_066963.2  
    ENSEMBL proteins: 
     ENSP00000367203   ENSP00000399980   ENSP00000405910   ENSP00000398929   ENSP00000408230  
     ENSP00000437405   ENSP00000372355   ENSP00000443078  

    Human Recombinant Protein Products for KDM6A: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for KDM6A
    OriGene Protein Over-expression Lysate for KDM6A
    OriGene MassSpec for KDM6A 
    OriGene Custom Protein Services for KDM6A
    GenScript Custom Purified and Recombinant Proteins Services for KDM6A
    Novus Biologicals KDM6A Protein
    Novus Biologicals KDM6A Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for KDM6A 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA17500065
    GO:0035097histone methyltransferase complex IDA17500065

    KDM6A for ontologies           About GeneDecksing



    KDM6A Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for KDM6A
    GenScript Custom Superior Antibodies Services for KDM6A
    Novus Biologicals KDM6A Antibodies
    Abcam antibodies for KDM6A
    Cloud-Clone Corp. Antibodies for KDM6A 
    ThermoFisher Antibody for KDM6A
    LSBio Antibodies in human, mouse, rat for KDM6A 

    Assay Products for KDM6A: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for KDM6A
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for KDM6A
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for KDM6A 
    Cloud-Clone Corp. CLIAs for KDM6A


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    KDM: Chromatin-modifying enzymes / K-demethylases
    TTC: Tetratricopeptide (TTC) repeat domain containing

    5 InterPro protein domains:
     IPR003347 JmjC_dom
     IPR001440 TPR-1
     IPR011990 TPR-like_helical
     IPR013026 TPR-contain_dom
     IPR019734 TPR_repeat

    Graphical View of Domain Structure for InterPro Entry O15550

    ProtoNet protein and cluster: O15550

    1 Blocks protein domain: IPB003347 Transcription factor jumonji

    UniProtKB/Swiss-Prot: KDM6A_HUMAN, O15550
    Similarity: Belongs to the UTX family
    Similarity: Contains 1 JmjC domain
    Similarity: Contains 8 TPR repeats


    KDM6A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KDM6A_HUMAN, O15550
    Function: Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central
    role in histone code. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-27'. Plays a
    central role in regulation of posterior development, by regulating HOX gene expression. Demethylation of 'Lys-27'
    of histone H3 is concomitant with methylation of 'Lys-4' of histone H3, and regulates the recruitment of the PRC1
    complex and monoubiquitination of histone H2A

         Enzyme Numbers (IUBMB): EC 1.14.11.-1 EC 1.14.112

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA--
    GO:0005515protein binding ----
    GO:0016702oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ----
    GO:0046872metal ion binding IEA--
    GO:0051213dioxygenase activity IEA--
         
    KDM6A for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KDM6A:
     Decreased Hepatitis C virus re 

         14 MGI mutant phenotypes (inferred from 10 alleles(MGI details for Kdm6a):
     cardiovascular system  cellular  craniofacial  embryogenesis  growth/size 
     hematopoietic system  immune system  mortality/aging  nervous system  no phenotypic analysis 
     normal  reproductive system  respiratory system  skeleton 

    KDM6A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for KDM6A: Kdm6atm1.2Kaig Kdm6atm1a(EUCOMM)Jae Kdm6atm1.2Afst

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KDM6A 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KDM6A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KDM6A 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KDM6A 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KDM6A
    8/88 QIAGEN miScript miRNA Assays for microRNAs that regulate KDM6A (see all 88):
    hsa-miR-576-3p hsa-miR-300 hsa-miR-411 hsa-miR-199a-3p hsa-miR-134 hsa-miR-371-5p hsa-miR-890 hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidKDM6A 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for KDM6A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KDM6A

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for KDM6A
    Sirion Biotech Customized adenovirus for overexpression of KDM6A

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for KDM6A (see all 7)
    OriGene ORF clones in mouse, rat for KDM6A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KDM6A (NM_021140)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KDM6A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KDM6A
    Sirion Biotech Customized lentivirus for stable overexpression of KDM6A 
                         Customized lentivirus expression plasmids for stable overexpression of KDM6A 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for KDM6A
    Search LifeMap BioReagents cell lines for KDM6A
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KDM6A


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KDM6A About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1         Kegg Pathway  (Kegg details for KDM6A):
        Transcriptional misregulation in cancer


    KDM6A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KDM6A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/40 Interacting proteins for KDM6A (O155502, 3 ENSP000003672034) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3AP684313, ENSP000003502754I2D: score=1 STRING: ENSP00000350275
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    HIST1H3DP684313I2D: score=1 
    HIST1H3EP684313I2D: score=1 
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0001843neural tube closure IEA--
    GO:0003016respiratory system process IEA--
    GO:0007507heart development IEA--
    GO:0032525somite rostral/caudal axis specification IEA--

    KDM6A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KDM6A

    Search CenterWatch for drugs/clinical trials and news about KDM6A

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KDM6A gene: 
    NM_021140.2  

    Unigene Cluster for KDM6A:

    Lysine (K)-specific demethylase 6A
    Hs.522616  [show with all ESTs]
    Unigene Representative Sequence: CR749602
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377967(uc022bvi.1 uc010nhk.2 uc004dge.4 uc011mkz.2 uc011mla.2 uc011mlb.2 uc011mlc.2 uc022bvj.1 uc022bvk.1 uc011mld.2)
    ENST00000475233 ENST00000451692 ENST00000414389 ENST00000433797 ENST00000485072
    ENST00000484732 ENST00000431196 ENST00000479423 ENST00000536777 ENST00000382899
    ENST00000543216
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KDM6A
    8/88 QIAGEN miScript miRNA Assays for microRNAs that regulate KDM6A (see all 88):
    hsa-miR-576-3p hsa-miR-300 hsa-miR-411 hsa-miR-199a-3p hsa-miR-134 hsa-miR-371-5p hsa-miR-890 hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidKDM6A 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for KDM6A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KDM6A
    Clone
    Products:
         
    OriGene clones in human, mouse for KDM6A (see all 7)
    OriGene ORF clones in mouse, rat for KDM6A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KDM6A (NM_021140)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KDM6A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KDM6A
    Sirion Biotech Customized lentivirus for stable overexpression of KDM6A 
                         Customized lentivirus expression plasmids for stable overexpression of KDM6A 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for KDM6A
    OriGene qSTAR qPCR primer pairs in human, mouse for KDM6A
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KDM6A
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KDM6A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KDM6A

    Additional mRNA sequence: 

    AB208795.1 AF000992.1 AF000993.1 AK294456.1 AK303430.1 AK304114.1 AK307691.1 AL831996.2 
    BC093868.1 BC113381.1 BC143272.1 BC143275.1 BC143277.1 BC143278.1 BX640694.1 CR749602.1 
    DQ062676.1 DQ062677.1 DQ062678.1 EF491815.1 EU026283.1 EU026291.1 

    9 DOTS entries:

    DT.100780960  DT.447189  DT.70105225  DT.121298244  DT.217278  DT.92014693  DT.91974254  DT.100724996 
    DT.95232890 

    24/151 AceView cDNA sequences (see all 151):

    AI523735 BF061443 AA345227 AA693874 Z40981 AI079569 AI872450 BF223605 
    BM713871 AW152421 CB990705 Z39029 AA576031 BU689838 AI919522 BQ951340 
    BU507564 AW467475 W96301 CR749602 BP361021 BX096433 BM803755 BE674197 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for KDM6A    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23a ·
    SP1:                                                                                      -                                                                     
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 23b ^ 24 ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33
    SP1:                          -                                                   
    SP2:                          -                                                   
    SP3:                                                                              
    SP4:                                                                              
    SP5:                                                                              


    ECgene alternative splicing isoforms for KDM6A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KDM6A expression in normal human tissues (normalized intensities)      KDM6A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGGTTACAC
    KDM6A Expression
    About this image


    KDM6A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Proerythroblasts Hematopoietic Bone Marrow
             neutrophils   
     
     Ovary (Reproductive System)
             oocyte   
     
     Cartilage (Muscoskeletal System)
             fetal cartilage   
     
     Eye (Sensory Organs)
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Spleen (Hematopoietic System)
             splenocytes   

    See KDM6A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KDM6A

    SOURCE GeneReport for Unigene cluster: Hs.522616
        SABiosciences Custom PCR Arrays for KDM6A
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for KDM6A
    OriGene qSTAR qPCR primer pairs in human, mouse for KDM6A
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KDM6A
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KDM6A
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KDM6A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KDM6A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for KDM6A gene from 8/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kdm6a1 , 5 lysine (K)-specific demethylase 6A1, 5 95.49(n)1
    97.48(a)1
      X (13.45 cM)5
    222891  NM_009483.11  NP_033509.11 
     181625755 
    chicken
    (Gallus gallus)
    Aves KDM6A1 lysine (K)-specific demethylase 6A 90.47(n)
    93.77(a)
      418556  XM_416762.3  XP_416762.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    85(a)
    1 → many
    3(135620858-135783794)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.347042 Xenopus laevis transcribed sequence with moderate similarity more 85.27(n)    CA790840.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.71062 Transcribed sequences 84.82(n)    57064909 
    fruit fly
    (Drosophila melanogaster)
    Insecta Utx1 CG5640-PA 58.9(n)
    61.83(a)
      34377  NM_001201844.1  NP_001188773.1 
    worm
    (Caenorhabditis elegans)
    Secernentea utx-11 Protein UTX-1 49.89(n)
    40.35(a)
      181110  NM_077049.3  NP_509450.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CYC86
    General transcriptional co-repressor, acts togethe...
    20(a)
    1 → many
    II(462870-465770)


    ENSEMBL Gene Tree for KDM6A (if available)
    TreeFam Gene Tree for KDM6A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KDM6A gene
    KDM6B2  UTY2  
    6 SIMAP similar genes for KDM6A using alignment to 8 protein entries:     KDM6A_HUMAN (see all proteins):
    DKFZp686A03225    DKFZp451J023    UTX    UTY    DKFZp686N1481    KDM6B

    KDM6A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3074 SNPs in KDM6A are shown (see all 3074)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0358714
    A colorectal cancer sample4--see VAR_0358712 L R mis40--------
    VAR_0672264
    A patient with chronic myelomonocytic leukemia4--see VAR_0672262 E D mis40--------
    VAR_0672274
    A patient with chronic myelomonocytic leukemia4--see VAR_0672272 R K mis40--------
    VAR_0672254
    A patient with chronic myelomonocytic leukemia4--see VAR_0672252 I V mis40--------
    rs59522681,2
    C--44648936(+) ctgctC/Ttccaa 1 -- us2k10--------
    rs59522691,2
    C,F,H--44649042(+) GACCTG/AAGTCA 1 -- us2k112Minor allele frequency- A:0.15NS EA NA 1512
    rs2010699711,2
    --44649111(+) GCAAG-/TGTG  
      TGTGTA
    TGTGT
    1 -- us2k10--------
    rs2017453001,2
    --44649113(+) AAGTG-/TGT   
       GTGTA
    TGTGT
    1 -- us2k10--------
    rs1997861891,2
    --44649115(+) GTGTG-/TGTGTA
            
    TGTGT
    1 -- us2k10--------
    rs2007796671,2
    --44649117(+) GTGTG-/TGTA  
            
    TGTGT
    1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KDM6A (44732423 - 44971847 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KDM6A:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2740129CNV Deletion23290073
    esv2740127CNV Deletion23290073


    Human Gene Mutation Database (HGMD): KDM6A

    Locus Specific Mutation Databases (LSDB): KDM6A
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KDM6A
    DNA2.0 Custom Variant and Variant Library Synthesis for KDM6A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 300128    OMIM disorders: --

    UniProtKB/Swiss-Prot: KDM6A_HUMAN, O15550
  • Kabuki syndrome 2 (KABUK2) [MIM:300867]: A congenital mental retardation syndrome with additional
    features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion
    of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or
    high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the
    vertebrae, hands, and hip joints, and recurrent otitis media in infancy. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 11 diseases for KDM6A:    About MalaCards
    keratitis    dwarfism    scoliosis    otitis media
    male infertility    graves' disease    infertility    mental retardation
    hepatitis b    hepatitis    leukemia


    KDM6A for disorders           About GeneDecksing

    Genetic Association Database (GAD): KDM6A
    Human Genome Epidemiology (HuGE) Navigator: KDM6A (1 document)

    Export disorders for KDM6A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KDM6A gene, integrated from 9 sources (see all 54):
    (articles sorted by number of sources associating them with KDM6A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Functional coherence of the human Y chromosome. (PubMed id 9381176)1, 2, 3 Lahn B.T. and Page D.C. (1997)
    2. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. (PubMed id 22197486)1, 2 Lederer D.... Verellen-Dumoulin C. (2012)
    3. Structural basis for histone H3 Lys 27 demethylation by UTX/KDM6A. (PubMed id 22002947)1, 2 Sengoku T. and Yokoyama S. (2011)
    4. Mutational spectrum analysis of chronic myelomonocyti c leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A. (PubMed id 21828135)1, 2 Jankowska A.M....Maciejewski J.P. (2011)
    5. Follow-up of potential novel Graves' disease suscepti bility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. (PubMed id 20442750)1, 4 Newby P.R....Gough S.C. (2010)
    6. PTIP Associates with MLL3- and MLL4-containing Histone H3 Lysine 4 Methyltransferase Complex. (PubMed id 17500065)1, 2 Cho Y.W.... Ge K. (2007)
    7. A histone H3 lysine 27 demethylase regulates animal posterior development. (PubMed id 17851529)1, 2 Lan F....Shi Y. (2007)
    8. Identification of JmjC domain-containing UTX and JMJD3 as histone H3 lysine 27 demethylases. (PubMed id 18003914)1, 2 Hong S....Ge K. (2007)
    9. Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination. (PubMed id 17761849)1, 2 Lee M.G.... Shiekhattar R. (2007)
    10. The UTX gene escapes X inactivation in mice and humans. (PubMed id 9499428)1, 3 Greenfield A....Koopman P. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7403 HGNC: 12637 AceView: UTX Ensembl:ENSG00000147050 euGenes: HUgn7403
    ECgene: KDM6A Kegg: 7403 H-InvDB: KDM6A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KDM6A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KDM6A gene:
    Search GeneIP for patents involving KDM6A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for KDM6A  
     OriGene qPCR primer pairs and template standards for KDM6A   OriGene Protein Over-expression Lysate for KDM6A  
     OriGene MassSpec something-or-other for KDM6A   OriGene clones in human, mouse for KDM6A  
     OriGene qSTAR qPCR primer pairs in human, mouse for KDM6A   OriGene Purified Protein for KDM6A  
     OriGene ORF clones in mouse, rat for KDM6A   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for KDM6A   OriGene Custom Protein Services for KDM6A  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat KDM6A
     QIAGEN SeqTarget long-range PCR primers for resequencing KDM6A
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KDM6A
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KDM6A
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KDM6A
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KDM6A
     GenScript Custom Purified and Recombinant Proteins Services for KDM6A GenScript cDNA clones with any tag delivered in your preferred vector for KDM6A
     GenScript Custom Assay Services for KDM6A GenScript Custom Superior Antibodies Services for KDM6A
     GenScript Custom overexpressing Cell Line Services for KDM6A CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in KDM6A promoter
     Search Chromatin IP Primers for KDM6A
     RT2 qPCR Primer Assay in human, mouse, rat KDM6A
     GNC Network for KDM6A
     SABiosciences Custom PCR Arrays for KDM6A
     Search Tocris compounds for KDM6A
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     KDM6A antibodies
     KDM6A proteins
     KDM6A lysates
     Antibodies for KDM6A
     See all of Abcam's Antibodies, Kits and Proteins for KDM6A
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for KDM6A
     Antibodies for KDM6A
     ELISAs for KDM6A
     CLIAs for KDM6A
     Search LifeMap BioReagents cell lines for KDM6A
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KDM6A
     SwitchGear 3'UTR luciferase reporter plasmids for KDM6A
     SwitchGear Promoter luciferase reporter plasmids for KDM6A
     ThermoFisher Antibody for KDM6A
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KDM6A
     inGenious Targeting Laboratory - Custom generated mouse model solutions for KDM6A
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KDM6A
    Customized:
     lentivirus for stable overexpression of KDM6A
     lentivirus expression plasmids for stable overexpression of KDM6A
     adenovirus for overexpression of KDM6A
     LSBio Antibodies in human, mouse, rat for KDM6A
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      KDM6A gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4