Human Gene KDM6A (ENST00000611820.5_9) from GENCODE V47lift37
  Description: Reaction=2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(27)- [histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L- lysyl(27)-[histone H3] + 2 succinate; Xref=Rhea:RHEA:60224, Rhea:RHEA-COMP:15535, Rhea:RHEA-COMP:15544, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:16842, ChEBI:CHEBI:30031, ChEBI:CHEBI:61929, ChEBI:CHEBI:61961; EC=1.14.11.68; Evidence=; (from UniProt A0A087X0R0)
Gencode Transcript: ENST00000611820.5_9
Gencode Gene: ENSG00000147050.18_14
Transcript (Including UTRs)
   Position: hg19 chrX:44,732,434-44,972,024 Size: 239,591 Total Exon Count: 30 Strand: +
Coding Region
   Position: hg19 chrX:44,732,798-44,970,656 Size: 237,859 Coding Exon Count: 30 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
Microarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsOther NamesGeneReviews
Model InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:44,732,434-44,972,024)mRNA (may differ from genome)Protein (1453 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsHGNC
MalacardsMGIPubMedUniProtKBWikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: KDM6A
Diseases sorted by gene-association score: kabuki syndrome 2* (919), kdm6a-related kabuki syndrome* (500), kabuki syndrome 1* (331), chronic myelomonocytic leukemia (10), tanycytic ependymoma (7), kbg syndrome (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D017638 Asbestos, Crocidolite
  • D001564 Benzo(a)pyrene
  • D019327 Copper Sulfate
  • D016572 Cyclosporine
  • D005557 Formaldehyde
  • D008727 Methotrexate
  • D010634 Phenobarbital
  • C513635 S-2-pentyl-4-pentynoic hydroxamic acid
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -166.70364-0.458 Picture PostScript Text
3' UTR -308.001368-0.225 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Descriptions from all associated GenBank mRNAs
  LF211428 - JP 2014500723-A/18931: Polycomb-Associated Non-Coding RNAs.
AK304114 - Homo sapiens cDNA FLJ54410 partial cds, highly similar to Ubiquitously transcribed X chromosometetratricopeptide repeat protein.
AB208795 - Homo sapiens mRNA for ubiquitously transcribed tetratricopeptide repeat variant protein.
BC143272 - Homo sapiens ubiquitously transcribed tetratricopeptide repeat, X chromosome, mRNA (cDNA clone MGC:176791 IMAGE:9051774), complete cds.
BC093868 - Homo sapiens ubiquitously transcribed tetratricopeptide repeat, X chromosome, mRNA (cDNA clone MGC:120903 IMAGE:7939713), complete cds.
BC113381 - Homo sapiens ubiquitously transcribed tetratricopeptide repeat, X chromosome, mRNA (cDNA clone MGC:141941 IMAGE:8322433), complete cds.
BC143275 - Homo sapiens cDNA clone IMAGE:9051777, containing frame-shift errors.
BC143277 - Homo sapiens ubiquitously transcribed tetratricopeptide repeat, X chromosome, mRNA (cDNA clone MGC:176796 IMAGE:9051779), complete cds.
BC143278 - Homo sapiens ubiquitously transcribed tetratricopeptide repeat, X chromosome, mRNA (cDNA clone MGC:176797 IMAGE:9051780), complete cds.
AF000992 - Homo sapiens ubiquitous TPR motif, X isoform (UTX) mRNA, alternative transcript 1, complete cds.
AF000993 - Homo sapiens ubiquitous TPR motif, X isoform (UTX) mRNA, alternative transcript 2, complete cds.
AB384732 - Synthetic construct DNA, clone: pF1KB3038, Homo sapiens UTX gene for ubiquitously transcribed X chromosome tetratricopeptide repeat protein, complete cds, without stop codon, in Flexi system.
DQ062676 - Homo sapiens ubiquitously transcribed tetratricopeptide repeat protein X-linked, transcript variant 7 (UTX) mRNA, complete cds, alternatively spliced.
DQ062677 - Homo sapiens ubiquitously transcribed tetratricopeptide repeat protein X-linked, transcript variant 5 (UTX) mRNA, complete cds, alternatively spliced.
DQ062678 - Homo sapiens ubiquitously transcribed tetratricopeptide repeat protein X-linked, transcript variant 3 (UTX) mRNA, complete cds, alternatively spliced.
EU026283 - Homo sapiens ubiquitously transcribed tetratricopeptide repeat protein X-linked transcript variant 4 (UTX) mRNA, complete cds, alternatively spliced.
EU026291 - Homo sapiens ubiquitously transcribed tetratricopeptide repeat protein X-linked transcript variant 6 (UTX) mRNA, complete cds, alternatively spliced.
AK294456 - Homo sapiens cDNA FLJ61093 partial cds, highly similar to Ubiquitously transcribed X chromosome tetratricopeptide repeat protein.
AK303430 - Homo sapiens cDNA FLJ54396 complete cds, highly similar to Ubiquitously transcribed X chromosome tetratricopeptide repeat protein.
AL831996 - Homo sapiens mRNA; cDNA DKFZp451J023 (from clone DKFZp451J023).
MA447005 - JP 2018138019-A/18931: Polycomb-Associated Non-Coding RNAs.
LF211427 - JP 2014500723-A/18930: Polycomb-Associated Non-Coding RNAs.
LF379375 - JP 2014500723-A/186878: Polycomb-Associated Non-Coding RNAs.
LF379376 - JP 2014500723-A/186879: Polycomb-Associated Non-Coding RNAs.
JD458584 - Sequence 439608 from Patent EP1572962.
MA447004 - JP 2018138019-A/18930: Polycomb-Associated Non-Coding RNAs.
MA614952 - JP 2018138019-A/186878: Polycomb-Associated Non-Coding RNAs.
MA614953 - JP 2018138019-A/186879: Polycomb-Associated Non-Coding RNAs.
LF379407 - JP 2014500723-A/186910: Polycomb-Associated Non-Coding RNAs.
LF379408 - JP 2014500723-A/186911: Polycomb-Associated Non-Coding RNAs.
AK307691 - Homo sapiens cDNA, FLJ97639.
LF379409 - JP 2014500723-A/186912: Polycomb-Associated Non-Coding RNAs.
BX640694 - Homo sapiens mRNA; cDNA DKFZp686N1481 (from clone DKFZp686N1481).
LF379419 - JP 2014500723-A/186922: Polycomb-Associated Non-Coding RNAs.
LF379421 - JP 2014500723-A/186924: Polycomb-Associated Non-Coding RNAs.
LF379422 - JP 2014500723-A/186925: Polycomb-Associated Non-Coding RNAs.
MA614984 - JP 2018138019-A/186910: Polycomb-Associated Non-Coding RNAs.
MA614985 - JP 2018138019-A/186911: Polycomb-Associated Non-Coding RNAs.
MA614986 - JP 2018138019-A/186912: Polycomb-Associated Non-Coding RNAs.
MA614996 - JP 2018138019-A/186922: Polycomb-Associated Non-Coding RNAs.
MA614998 - JP 2018138019-A/186924: Polycomb-Associated Non-Coding RNAs.
MA614999 - JP 2018138019-A/186925: Polycomb-Associated Non-Coding RNAs.
CR749602 - Homo sapiens mRNA; cDNA DKFZp686A03225 (from clone DKFZp686A03225).
LF379426 - JP 2014500723-A/186929: Polycomb-Associated Non-Coding RNAs.
JD386001 - Sequence 367025 from Patent EP1572962.
JD249352 - Sequence 230376 from Patent EP1572962.
JD561958 - Sequence 542982 from Patent EP1572962.
JD313109 - Sequence 294133 from Patent EP1572962.
JD503617 - Sequence 484641 from Patent EP1572962.
JD241204 - Sequence 222228 from Patent EP1572962.
LF379428 - JP 2014500723-A/186931: Polycomb-Associated Non-Coding RNAs.
JD147373 - Sequence 128397 from Patent EP1572962.
LF379429 - JP 2014500723-A/186932: Polycomb-Associated Non-Coding RNAs.
JD303035 - Sequence 284059 from Patent EP1572962.
MA615003 - JP 2018138019-A/186929: Polycomb-Associated Non-Coding RNAs.
MA615005 - JP 2018138019-A/186931: Polycomb-Associated Non-Coding RNAs.
MA615006 - JP 2018138019-A/186932: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A0A087X0R0, A0A087X0R0_HUMAN, ENST00000611820.1, ENST00000611820.2, ENST00000611820.3, ENST00000611820.4, KDM6A , NM_001419813, uc327nov.1, uc327nov.2
UCSC ID: ENST00000611820.5_9
RefSeq Accession: NM_001291415.2

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene KDM6A:
cdh-ov (Congenital Diaphragmatic Hernia Overview)
kabuki (Kabuki Syndrome)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.