Expression of KDM6A in cancer - Summary

GENERAL INFORMATION
Gene name	KDM6A
Gene description	Lysine (K)-specific demethylase 6A
Protein class	Cancer-related genes Disease related genes Predicted intracellular proteins Predicted secreted proteins
Predicted localization	Intracellular,Secreted
Number of transcripts	10
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HUMAN PROTEIN ATLAS INFORMATION

RNA category

TCGA (cancer tissue):	Expressed in all
HPA (cell line):	Mixed
HPA (normal tissue):	Expressed in all

Protein evidence

Evidence at protein level

Protein expression
normal tissue

Nuclear expression in gastrointestinal tract, squamous epithelium and lymphoid tissues.

ANTIBODY IHC RELIABILITY
Data reliability description	Antibody staining mainly not consistent with RNA expression data. Caution, targets protein from more than one gene.
Reliability score	Supported based on 3 antibodies. HPA000568 , HPA001165 , HPA002111
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PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset RNA cancer category: Expressed in all

PROTEIN EXPRESSION

STAINING SUMMARY

HPA000568	HPA001165	HPA002111

GENE INFORMATION
Gene name	KDM6A (HGNC Symbol)
Synonyms	UTX
Description	Lysine (K)-specific demethylase 6A (HGNC Symbol)
Entrez gene summary	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]
Chromosome	X
Cytoband	p11.3
Chromosome location (bp)	44873177 - 45112602
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000147050 (version 83.38)
Entrez gene	7403
UniProt	O15550 (UniProt - Evidence at protein level)
neXtProt	NX_O15550
Antibodypedia	KDM6A antibodies

PROTEIN BROWSER

KDM6A-001	KDM6A-002	KDM6A-003	KDM6A-005	KDM6A-008	KDM6A-201	KDM6A-202	KDM6A-203	KDM6A-204	KDM6A-205

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
KDM6A-001 ENSP00000367203 ENST00000377967	O15550 [Direct mapping] Lysine-specific demethylase 6A Show all	THUMBUP predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001701 [in utero embryonic development] GO:0001843 [neural tube closure] GO:0003007 [heart morphogenesis] GO:0003016 [respiratory system process] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006325 [chromatin organization] GO:0007507 [heart development] GO:0010468 [regulation of gene expression] GO:0010628 [positive regulation of gene expression] GO:0021915 [neural tube development] GO:0031490 [chromatin DNA binding] GO:0032525 [somite rostral/caudal axis specification] GO:0035097 [histone methyltransferase complex] GO:0035264 [multicellular organism growth] GO:0042802 [identical protein binding] GO:0046872 [metal ion binding] GO:0048333 [mesodermal cell differentiation] GO:0048568 [embryonic organ development] GO:0048570 [notochord morphogenesis] GO:0051213 [dioxygenase activity] GO:0051568 [histone H3-K4 methylation] GO:0055114 [oxidation-reduction process] GO:0060070 [canonical Wnt signaling pathway] GO:0071557 [histone H3-K27 demethylation] GO:0071558 [histone demethylase activity (H3-K27 specific)] GO:0072358 [cardiovascular system development] Show all	1401 aa 154.2 kDa	Yes	0
KDM6A-002 ENSP00000405910 ENST00000414389	H0Y6I7 [Direct mapping] Lysine-specific demethylase 6A Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0046872 [metal ion binding] GO:0071557 [histone H3-K27 demethylation] GO:0071558 [histone demethylase activity (H3-K27 specific)] Show all	999 aa 109.1 kDa	No	0
KDM6A-003 ENSP00000398929 ENST00000433797	H0Y5J3 [Direct mapping] Lysine-specific demethylase 6A Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0046872 [metal ion binding] GO:0071557 [histone H3-K27 demethylation] GO:0071558 [histone demethylase activity (H3-K27 specific)] Show all	1044 aa 113.9 kDa	No	0
KDM6A-005 ENSP00000399980 ENST00000451692	H7C1F1 [Direct mapping] Lysine-specific demethylase 6A Show all	Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0046872 [metal ion binding] GO:0071557 [histone H3-K27 demethylation] GO:0071558 [histone demethylase activity (H3-K27 specific)] Show all	224 aa 23.6 kDa	No	0
KDM6A-008 ENSP00000408230 ENST00000431196	H0Y6V5 [Direct mapping] Lysine-specific demethylase 6A Show all	SCAMPI predicted membrane proteins Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0046872 [metal ion binding] GO:0071557 [histone H3-K27 demethylation] GO:0071558 [histone demethylase activity (H3-K27 specific)] Show all	161 aa 18.4 kDa	No	0
KDM6A-201 ENSP00000372355 ENST00000382899	F8W8R6 [Direct mapping] Lysine-specific demethylase 6A Show all	THUMBUP predicted membrane proteins Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0046872 [metal ion binding] GO:0071557 [histone H3-K27 demethylation] GO:0071558 [histone demethylase activity (H3-K27 specific)] Show all	1384 aa 152.6 kDa	No	0
KDM6A-202 ENSP00000437405 ENST00000536777	F5H6S1 [Direct mapping] Lysine-specific demethylase 6A Show all	THUMBUP predicted membrane proteins Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0046872 [metal ion binding] GO:0071557 [histone H3-K27 demethylation] GO:0071558 [histone demethylase activity (H3-K27 specific)] Show all	1332 aa 147 kDa	No	0
KDM6A-203 ENSP00000443078 ENST00000543216	F5H5V6 [Direct mapping] Lysine-specific demethylase 6A Show all	THUMBUP predicted membrane proteins Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0046872 [metal ion binding] GO:0071557 [histone H3-K27 demethylation] GO:0071558 [histone demethylase activity (H3-K27 specific)] Show all	1269 aa 139.1 kDa	No	0
KDM6A-204 ENSP00000483595 ENST00000611820	A0A087X0R0 [Direct mapping] Lysine-specific demethylase 6A Show all	THUMBUP predicted membrane proteins Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0046872 [metal ion binding] GO:0071557 [histone H3-K27 demethylation] GO:0071558 [histone demethylase activity (H3-K27 specific)] Show all	1429 aa 157.5 kDa	No	0
KDM6A-205 ENSP00000478793 ENST00000621147	A0A087WUN6 [Direct mapping] Lysine-specific demethylase 6A Show all	THUMBUP predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0046872 [metal ion binding] GO:0071557 [histone H3-K27 demethylation] GO:0071558 [histone demethylase activity (H3-K27 specific)] Show all	224 aa 25 kDa	Yes	0