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KDM6A Gene

protein-coding   GIFtS: 59
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)
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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
KABUK22 5     EC 1.14.11.-3
Ubiquitously Transcribed Tetratricopeptide Repeat, X Chromosome1     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 kabuki syndrome 2, and kdm6a-related kabuki syndrome. GO annotations related to this gene include RNA polymerase II core promoter proximal region sequence-specific DNA binding and histone demethylase activity (H3-K27 specific). 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_079573.5  NC_018934.2  
Regulatory elements:
   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 Chromatin IP Primers for KDM6A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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. Interacts with SUPT6H (By similarity)
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: 

  • Ubiquitination2 at Lys225
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for KDM6A (O15550) (see all 16)
     YQRYYSLQ  IGKVQDAF  ASSPSSAIST  GTCDKVNNIHP 


    See KDM6A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

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

    5 InterPro protein domains:
     IPR011990 TPR-like_helical
     IPR003347 JmjC_dom
     IPR001440 TPR_1
     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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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 molecular function terms:    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:0046872metal ion binding IEA--
    GO:0051213dioxygenase activity IEA--
    GO:0071558histone demethylase activity (H3-K27 specific) IEA--
         
    KDM6A for ontologies           About GeneDecksing


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

         Selected MGI mutant phenotypes (inferred from 13 alleles(MGI details for Kdm6a) (see all 16):
     cardiovascular system  cellular  craniofacial  embryogenesis  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging  muscle 
     nervous system  no phenotypic analysis  normal  reproductive system  respiratory system 

    KDM6A for phenotypes           About GeneDecksing

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

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    SwitchGear 3'UTR luciferase reporter plasmidKDM6A 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KDM6A_HUMAN, O15550: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular2
    golgi apparatus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    KDM6A for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KDM6A
    Interactions:

        GeneGlobe Interaction Network for KDM6A

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

    Selected Interacting proteins for KDM6A (O155502, 3 ENSP000003672034) via UniProtKB, MINT, STRING, and/or I2D (see all 119)
    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): Selected biological process terms (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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
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    Selected qRT-PCR 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
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      QuantiTect SYBR Green Assays in human, mouse, rat KDM6A
      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 

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KDM6A expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 3) fully expand
     
     Neurons
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
     
     Eye (Sensory Organs)
             Glycinergic Amacrine Cells Inner Nuclear Layer
    KDM6A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KDM6A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.522616
        Custom PCR Arrays for KDM6A
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    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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for KDM6A gene from Selected 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 95.45(n)1
    97.41(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 90.4(n)
    93.7(a)
      418556  XM_416762.4  XP_416762.4 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    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 Utx 59.12(n)
    62.39(a)
      34377  NM_001201844.1  NP_001188773.1 
    worm
    (Caenorhabditis elegans)
    Secernentea utx-11 utx-1 50.13(n)
    40.97(a)
      181110  NM_077049.4  NP_509450.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CYC86
    General transcriptional co-repressor, acts togethe...
    21(a)
    1 → many
    II(462870-465770) YBR112C


    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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KDM6A (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

    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 300128   
    OMIM disorders: 300867  
    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

  • Selected diseases for KDM6A (see all 22):    
    About MalaCards
    kabuki syndrome 2    kdm6a-related kabuki syndrome    kabuki syndrome    kabuki syndrome 1
    chronic myelomonocytic leukemia    dwarfism    keratitis    otitis media
    male infertility    graves' disease    infertility    medulloblastoma
    mental retardation    breast and colorectal cancer    hepatitis b    hepatitis
    colorectal cancer    leukemia    multiple myeloma    myeloma


    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

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    PubMed articles for KDM6A gene, integrated from 10 sources (see all 57):
    (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. (Science 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. (Am. J. Hum. Genet. 2012)
    3. Structural basis for histone H3 Lys 27 demethylation by UTX/KDM6A. (PubMed id 22002947)1, 2 Sengoku T. and Yokoyama S. (Genes Dev. 2011)
    4. Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A. (PubMed id 21828135)1, 2 Jankowska A.M.... Maciejewski J.P. (Blood 2011)
    5. Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. (PubMed id 20442750)1, 4 Newby P.R....Gough S.C. (Eur. J. Hum. Genet. 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. (J. Biol. Chem. 2007)
    7. A histone H3 lysine 27 demethylase regulates animal posterior development. (PubMed id 17851529)1, 2 Lan F.... Shi Y. (Nature 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. (Proc. Natl. Acad. Sci. U.S.A. 2007)
    9. Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination. (PubMed id 17761849)1, 2 Lee M.G.... Shiekhattar R. (Science 2007)
    10. The UTX gene escapes X inactivation in mice and humans. (PubMed id 9499428)1, 3 Greenfield A....Koopman P. (Hum. Mol. Genet. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 7403 HGNC: 12637 AceView: UTX Ensembl:ENSG00000147050 euGenes: HUgn7403
    ECgene: KDM6A Kegg: 7403 H-InvDB: KDM6A

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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