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Aliases for KDM6A Gene

Aliases for KDM6A Gene

  • Lysine Demethylase 6A 2 3
  • Lysine (K)-Specific Demethylase 6A 2 3 5
  • Histone Demethylase UTX 3 4
  • UTX 3 4
  • BA386N14.2 (Ubiquitously Transcribed X Chromosome Tetratricopeptide Repeat Protein (UTX)) 3
  • Ubiquitously-Transcribed X Chromosome Tetratricopeptide Repeat Protein 4
  • Ubiquitously Transcribed Tetratricopeptide Repeat Protein X-Linked 3
  • Ubiquitously Transcribed Tetratricopeptide Repeat, X Chromosome 2
  • Ubiquitously-Transcribed TPR Protein On The X Chromosome 4
  • Ubiquitously-Transcribed TPR Gene On The X Chromosome 3
  • EC 1.14.11.- 4
  • BA386N14.2 3
  • EC 1.14.11 63
  • KABUK2 3

External Ids for KDM6A Gene

Previous HGNC Symbols for KDM6A Gene

  • UTX

Previous GeneCards Identifiers for KDM6A Gene

  • GC0XP044619
  • GC0XP044732
  • GC0XP042453

Summaries for KDM6A Gene

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. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]

GeneCards Summary for KDM6A Gene

KDM6A (Lysine Demethylase 6A) is a Protein Coding gene. Diseases associated with KDM6A include Kabuki Syndrome 2 and Kabuki Syndrome 1. Among its related pathways are Developmental Biology and Chromatin organization. GO annotations related to this gene include identical protein binding and dioxygenase activity. An important paralog of this gene is UTY.

UniProtKB/Swiss-Prot for KDM6A Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KDM6A Gene

Genomics for KDM6A Gene

Regulatory Elements for KDM6A Gene

Enhancers for KDM6A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KDM6A on UCSC Golden Path with GeneCards custom track

Promoters for KDM6A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KDM6A on UCSC Golden Path with GeneCards custom track

Genomic Location for KDM6A Gene

Chromosome:
X
Start:
44,873,175 bp from pter
End:
45,112,779 bp from pter
Size:
239,605 bases
Orientation:
Plus strand

Genomic View for KDM6A Gene

Genes around KDM6A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KDM6A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KDM6A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KDM6A Gene

Proteins for KDM6A Gene

  • Protein details for KDM6A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15550-KDM6A_HUMAN
    Recommended name:
    Lysine-specific demethylase 6A
    Protein Accession:
    O15550
    Secondary Accessions:
    • Q52LL9
    • Q5JVQ7

    Protein attributes for KDM6A Gene

    Size:
    1401 amino acids
    Molecular mass:
    154177 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Cofactor:
    Name=L-ascorbate; Xref=ChEBI:CHEBI:38290;
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for KDM6A Gene

neXtProt entry for KDM6A Gene

Proteomics data for KDM6A Gene at MOPED

Post-translational modifications for KDM6A Gene

  • Ubiquitination at Lys 225
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for KDM6A (UTX)

Domains & Families for KDM6A Gene

Graphical View of Domain Structure for InterPro Entry

O15550

UniProtKB/Swiss-Prot:

KDM6A_HUMAN :
  • Contains 1 JmjC domain.
  • Belongs to the UTX family.
  • Contains 8 TPR repeats.
Domain:
  • Contains 1 JmjC domain.
Family:
  • Belongs to the UTX family.
Similarity:
  • Contains 8 TPR repeats.
genes like me logo Genes that share domains with KDM6A: view

Function for KDM6A Gene

Molecular function for KDM6A Gene

UniProtKB/Swiss-Prot 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) for KDM6A Gene

Gene Ontology (GO) - Molecular Function for KDM6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032452 histone demethylase activity TAS --
genes like me logo Genes that share ontologies with KDM6A: view
genes like me logo Genes that share phenotypes with KDM6A: view

Human Phenotype Ontology for KDM6A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KDM6A Gene

MGI Knock Outs for KDM6A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for KDM6A Gene

Localization for KDM6A Gene

Subcellular locations from UniProtKB/Swiss-Prot for KDM6A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KDM6A Gene COMPARTMENTS Subcellular localization image for KDM6A gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for KDM6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035097 histone methyltransferase complex IEA,IDA 17500065
genes like me logo Genes that share ontologies with KDM6A: view

Pathways & Interactions for KDM6A Gene

genes like me logo Genes that share pathways with KDM6A: view

Pathways by source for KDM6A Gene

Gene Ontology (GO) - Biological Process for KDM6A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0003016 respiratory system process IEA --
GO:0007507 heart development IEA --
GO:0010468 regulation of gene expression IEA --
GO:0010628 positive regulation of gene expression IEA --
genes like me logo Genes that share ontologies with KDM6A: view

No data available for SIGNOR curated interactions for KDM6A Gene

Drugs & Compounds for KDM6A Gene

No Compound Related Data Available

Transcripts for KDM6A Gene

Unigene Clusters for KDM6A Gene

Lysine (K)-specific demethylase 6A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KDM6A Gene

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:

Relevant External Links for KDM6A Gene

GeneLoc Exon Structure for
KDM6A
ECgene alternative splicing isoforms for
KDM6A

Expression for KDM6A Gene

mRNA expression in normal human tissues for KDM6A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KDM6A Gene

This gene is overexpressed in Plasma (41.1), Placenta (12.0), CD8 Tcells (7.5), and Blymphocyte (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KDM6A Gene



SOURCE GeneReport for Unigene cluster for KDM6A Gene Hs.522616

genes like me logo Genes that share expression patterns with KDM6A: view

Protein tissue co-expression partners for KDM6A Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for KDM6A Gene

Orthologs for KDM6A Gene

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

Orthologs for KDM6A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KDM6A 35
  • 97.14 (n)
  • 98.64 (a)
KDM6A 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KDM6A 35
  • 97.59 (n)
  • 98.98 (a)
KDM6A 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kdm6a 35
  • 95.45 (n)
  • 97.41 (a)
Kdm6a 16
Kdm6a 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KDM6A 35
  • 99.88 (n)
  • 100 (a)
KDM6A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kdm6a 35
  • 95.49 (n)
  • 97.37 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 90 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 93 (a)
OneToMany
chicken
(Gallus gallus)
Aves KDM6A 35
  • 90.4 (n)
  • 93.7 (a)
-- 36
  • 89 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 85 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia kdm6a 35
  • 84.54 (n)
  • 88.56 (a)
Str.3199 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.34704 35
zebrafish
(Danio rerio)
Actinopterygii Dr.7106 35
kdm6a 35
  • 75.21 (n)
  • 79.41 (a)
kdm6a 36
  • 74 (a)
ManyToMany
kdm6al 36
  • 66 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10250 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008509 35
  • 56.29 (n)
  • 60.61 (a)
fruit fly
(Drosophila melanogaster)
Insecta Utx 35
  • 59.12 (n)
  • 62.39 (a)
Utx 36
  • 46 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea utx-1 35
  • 50.13 (n)
  • 40.97 (a)
utx-1 36
  • 32 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CYC8 36
  • 21 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3634 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8580 36
  • 45 (a)
OneToMany
Species with no ortholog for KDM6A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KDM6A Gene

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

Paralogs for KDM6A Gene

Paralogs for KDM6A Gene

genes like me logo Genes that share paralogs with KDM6A: view

Variants for KDM6A Gene

Sequence variations from dbSNP and Humsavar for KDM6A Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs6529 - 44,873,639(+) GAAAA(A/G)CGAGC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs6530 - 45,062,712(+) GAACA(C/G)CTGGA intron-variant, nc-transcript-variant, reference, missense
rs2230018 - 45,069,832(+) ATTGA(A/C/T)GGTGC nc-transcript-variant, reference, missense
VAR_035871 A colorectal cancer sample
rs34922269 - 45,063,635(-) TGATG(C/T)GCTAC nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KDM6A Gene

Variant ID Type Subtype PubMed ID
esv2740127 CNV Deletion 23290073
esv2740129 CNV Deletion 23290073

Variation tolerance for KDM6A Gene

Residual Variation Intolerance Score: 4.59% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.71; 73.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KDM6A Gene

Human Gene Mutation Database (HGMD)
KDM6A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KDM6A Gene

Disorders for KDM6A Gene

MalaCards: The human disease database

(6) MalaCards diseases for KDM6A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
kabuki syndrome 2
  • kabuk2
kabuki syndrome 1
  • kabuki syndrome
kdm6a-related kabuki syndrome
  • kabuki syndrome 2
chronic myelomonocytic leukemia
  • myelomonocytic leukemia, chronic
tanycytic ependymoma
- elite association - COSMIC cancer census association via MalaCards
Search KDM6A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KDM6A_HUMAN
  • 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. {ECO:0000269 PubMed:22197486}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KDM6A

Genetic Association Database (GAD)
KDM6A
Human Genome Epidemiology (HuGE) Navigator
KDM6A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KDM6A
genes like me logo Genes that share disorders with KDM6A: view

No data available for Genatlas for KDM6A Gene

Publications for KDM6A Gene

  1. Functional coherence of the human Y chromosome. (PMID: 9381176) Lahn B.T. … Page D.C. (Science 1997) 2 3 4 67
  2. The UTX gene escapes X inactivation in mice and humans. (PMID: 9499428) Greenfield A. … Koopman P. (Hum. Mol. Genet. 1998) 2 3
  3. The H3K27me3 demethylase UTX is a gender-specific tumor suppressor in T-cell acute lymphoblastic leukemia. (PMID: 25320243) Van der Meulen J. … Van Vlierberghe P. (Blood 2015) 3
  4. Beyond conventional chemotherapy: Emerging molecular targeted and immunotherapy strategies in urothelial carcinoma. (PMID: 26138514) Ikeda S. … Kurzrock R. (Cancer Treat. Rev. 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for KDM6A Gene

Sources for KDM6A Gene

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