KDM6A (lysine demethylase 6A)

2009-08-01  

Identity

HGNC
LOCATION
Xp11.3
LOCUSID
ALIAS
KABUK2,UTX,bA386N14.2
FUSION GENES

Other Information

Locus ID:

NCBI: 7403
MIM: 300128
HGNC: 12637
Ensembl: ENSG00000147050

Variants:

dbSNP: 7403
ClinVar: 7403
TCGA: ENSG00000147050
COSMIC: KDM6A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147050ENST00000377967O15550
ENSG00000147050ENST00000382899F8W8R6
ENSG00000147050ENST00000414389H0Y6I7
ENSG00000147050ENST00000431196H0Y6V5
ENSG00000147050ENST00000451692H7C1F1
ENSG00000147050ENST00000536777F5H6S1
ENSG00000147050ENST00000543216F5H5V6
ENSG00000147050ENST00000611820A0A087X0R0
ENSG00000147050ENST00000621147A0A087WUN6

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202
Developmental BiologyREACTOMER-HSA-1266738
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
HDMs demethylate histonesREACTOMER-HSA-3214842
Activation of HOX genes during differentiationREACTOMER-HSA-5619507
Activation of anterior HOX genes in hindbrain development during early embryogenesisREACTOMER-HSA-5617472

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
177134782007UTX and JMJD3 are histone H3K27 demethylases involved in HOX gene regulation and development.464
200542972010Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.458
177618492007Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination.303
193300292009Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.298
178515292007A histone H3 lysine 27 demethylase regulates animal posterior development.294
175000652007PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex.252
180039142007Identification of JmjC domain-containing UTX and JMJD3 as histone H3 lysine 27 demethylases.230
180039142007Identification of JmjC domain-containing UTX and JMJD3 as histone H3 lysine 27 demethylases.230
228015022012The H3K27 demethylase Utx regulates somatic and germ cell epigenetic reprogramming.134
218281352011Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A.106

Citation

Dessen P

KDM6A (lysine demethylase 6A)

Atlas Genet Cytogenet Oncol Haematol. 2009-08-01

Online version: http://atlasgeneticsoncology.org/gene/50993/kdm6a