KDM6A - lysine demethylase 6A Gene

Also Known as UTX; KABUK2; bA386N14.2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7403

About KDM6A

Cytogenetic location: Xp11.3 Genomic coordinates (GRCh38): X:44,873,188-45,112,779 (from NCBI)

This gene has 37 transcripts (splice variants), 214 orthologues, 2 paralogues and is associated with 150 phenotypes. Ubiquitous expression in bone marrow (RPKM 10.3), thyroid (RPKM 7.3) and 25 other tissues.

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]

KDM6A Products (7)

mRNA	Protein	Name
NM_001291415.2	NP_001278344.1	lysine-specific demethylase 6A isoform 1
NM_001291416.2	NP_001278345.1	lysine-specific demethylase 6A isoform 2
NM_001291417.2	NP_001278346.1	lysine-specific demethylase 6A isoform 4
NM_001291418.2	NP_001278347.1	lysine-specific demethylase 6A isoform 5
NM_001291421.2	NP_001278350.1	lysine-specific demethylase 6A isoform 6
NM_001410742.1	NP_001397671.1	lysine-specific demethylase 6A isoform 7
NM_021140.4	NP_066963.2	lysine-specific demethylase 6A isoform 3

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17178841	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of MLL3/4 complex	IDA IDA: Inferred from direct assay	17500065	GOA
part of MLL3/4 complex	IPI IPI: Inferred from physical interaction	23508102	GOA
part of histone methyltransferase complex	IDA IDA: Inferred from direct assay	17500065	GOA
located in nucleus	IDA IDA: Inferred from direct assay	17500065	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KDM6A Protein Structure

TPR_11

TPR_8

TPR_17

TPR_11

JmjC

0
300
600
900
1200
1401 a.a.

Protein Preferred Names	Protein Names
lysine-specific demethylase 6A	[histone H3]-trimethyl-L-lysine(27) demethylase 6A

KDM6A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	KDM6A	O15550	MEOX2	Homo sapiens	Q6FHY5	Validated Y2H	32296183
Intra	KDM6A	O15550	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	32296183
Intra	KDM6A	O15550	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	32296183
Intra	KDM6A	O15550	GSC2	Homo sapiens	O15499	Y2H Prey Pooling	32296183
Intra	KDM6A	O15550	GSC2	Homo sapiens	O15499	Y2H Array	32296183
Intra	KDM6A	O15550	WDR5	Homo sapiens	P61964	Anti Bait CoIP	17178841
Intra	KDM6A	O15550	WDR5	Homo sapiens	P61964	TAP	24981860

Cross: Cross-species interaction Intra: Intraspecies interaction

KDM6A Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83835	KDM6A Antibody (YA3532)	WB, ELISA	Human, Rat
HY-P83835A	KDM6A Antibody (YA3532)(PBS only)	WB, ELISA	Human, Rat

Related Diseases

Diseases	Alias
Kabuki Syndrome 2	KABUK2 Kabuki Syndrome, Type 2
Kabuki Syndrome 1	Kabuki Syndrome Niikawa-Kuroki Syndrome Kabuki Make-Up Syndrome Kms KABUK1 Kabuki Make Up Syndrome Nks Kabuki Makeup Syndrome Kabuki Syndrome, Type 1
Charge Syndrome	Charge Association Hall-Hittner Syndrome Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies Hhs Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome CHARGES
Turner Syndrome	Monosomy X Gonadal Dysgenesis Turner Type Ullrich-Turner Syndrome Bonnevie-Ullrich Syndrome Karyotype 45, X Genital Dwarfism, Turner Type Gonadal Dysgenesis 45,X Turner'S Syndrome Gonadal Dysgenesis - Turner Monosomy X Syndrome Xo Syndrome Genital Dwarfism 45, X Syndrome Bonnevie-Ulrich Syndrome Chromosome X Monosomy X Schereshevkii Turner Syndrome Turner Varny Syndrome Ts 45,X Syndrome 45,X/46,Xx Syndrome Turners Syndrome Gonadal Dysgenesis, 45,X X0 Syndrome
Mayer-Rokitansky-Kuster-Hauser Syndrome	Mrkh Syndrome Rokitansky Syndrome Mullerian Aplasia Mrkh Anomaly Congenital Absence Of Uterus And Vagina Congenital Absence Of The Uterus And Vagina Genital Renal Ear Syndrome Mayer-Rokitansky-Küster-Hauser Syndrome Mullerian Dysgenesis Müllerian Agenesis Rokitansky Kuster Hauser Syndrome MRKH Mullerian Aplasia/Dysgenesis Von Mayer-Rokitansky-Kuster Anomaly Mrk Anomaly Uterus Bipartitus Solidus Rudimentarius Cum Vagina Solida Cauv Mullerian Agenesis Aplasia Of The Mullerian Ducts Mullerian Duct Failure Müllerian Aplasia Rokitansky-Kuster-Hauser Syndrome RKH SYNDROME
Immunodeficiency 27a	IMD27A Autosomal Recessive Ifngr1 Deficiency Autosomal Recessive Immunodeficiency 27a, Mycobacteriosis Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Ifngammar1 Deficiency Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Interferon Gamma Receptor 1 Deficiency Autosomal Recessive Msmd Due To Partial Ifngammar1 Deficiency Autosomal Recessive Msmd Due To Partial Interferon Gamma Receptor 1 Deficiency Immunodeficiency 27a, Mycobacteriosis, Autosomal Recessive Ifngr1 Deficiency, Autosomal Recessive Immunodeficiency 27a, Mycobacteriosis, Ar Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Ifngammar1 Deficiency Msmd Due To Complete Ifngammar1 Deficiency Msmd Due To Complete Interferon Gamma Receptor 1 Deficiency Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Interferon Gamma Receptor 1 Deficiency Familial Disseminated Atypical Mycobacterial Infection Interferon Gamma, Receptor 1, Deficiency Immunodeficiency, Type 27a, Mycobacteriosis, Ar Mycobacterial Disease, Mendelian Susceptibility To
Bladder Urothelial Carcinoma	Bladder Transitional Cell Carcinoma Transitional Cell Carcinoma Of Bladder Transitional Cell Carcinoma Of The Bladder Urinary Bladder Urothelial Carcinoma Urothelial Bladder Carcinoma Carcinoma Transitional Cell Bladder Tcc - [Transitional Cell Carcinoma] Of Bladder
Otitis Media	Opsoclonus-Myoclonus Syndrome OMS Otitis Media, Susceptibility To Kinsbourne Syndrome Otitis Media, Chronic/Recurrent Come/Rom Ataxo-Opso-Myoclonus Syndrome Dancing Eye Syndrome Dancing Eye-Dancing Feet Syndrome Oma Syndrome Opsoclonus Myoclonus Syndrome Opsoclonus-Myoclonus-Ataxia Syndrome Poma Syndrome Paraneoplastic Opsoclonus-Myoclonus Paraneoplastic Opsoclonus-Myoclonus-Ataxia Syndrome Opsoclonus Myoclonus OM {Otitis Media, Susceptibility To} Infectious Otitis Media
Adenoid Cystic Carcinoma	Adenocystic Carcinoma Cribriform Carcinoma Cylindroma Carcinoma Adenoid Cystic Carcinoma, Adenoid Cystic Adenoid Cystic Carcinoma Of Salivary Gland Eccrine Dermal Cylindroma Carcinoma, Cribriform
Bartholin'S Gland Adenoid Cystic Carcinoma	Bartholin Gland Adenoid Cystic Carcinoma
Hyperinsulinism	Hyperinsulinemia
Kleefstra Syndrome	9q34.3 Microdeletion Syndrome 9q Subtelomeric Deletion Syndrome 9q- Syndrome Chromosome 9q Deletion Syndrome 9q34.3 Deletion Syndrome 9qstds Chromosome 9q34.3 Deletion Syndrome Chromosome 9, Trisomy 9q
Adhesions Of Uterus	Intrauterine Adhesions Intrauterine Synechiae Band Of Uterus Asherman Syndrome Internal Adhesion Of Uterus Internal Band Of Uterus
Chromosome 16p13.3 Deletion Syndrome, Proximal	Rubinstein-Taybi Syndrome Broad Thumb-Hallux Syndrome Chromosome 16p13.3 Deletion Syndrome Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion Rubinstein Syndrome Broad Thumbs-Halluces Syndrome Rsts Rubinstein-Taybi Deletion Syndrome Rsts Deletion Syndrome Proximal Chromosome 16p13.3 Deletion Syndrome 16p13.3 Deletion Syndrome Broad Thumbs And Great Toes, Characteristic Facies, And Intellectual Disability Rts
Familial Isolated Trichomegaly	Long Eyelashes Tcmgly
Medulloblastoma	MDB Cpnet Localized Primitive Neuroectodermal Tumor Classic Medulloblastoma Medulloblastoma Predisposition Syndrome Medulloblastoma, Somatic Brain Medulloblastoma Cns Pnet Infratentorial Primitive Neuroectodermal Tumor Neuroectodermal Tumors, Primitive Medulloblastomas Desmoplastic Medulloblastoma Medulloblastoma, With Extensive Nodularity Medulloblastoma Of Unspecified Site Medullomyoblastoma Of Unspecified Site
Male Infertility	Infertility, Male Infertility Male Male Sterility Absolute Infertility
Autosomal Dominant Intellectual Developmental Disorder 31	Autosomal Dominant Non-Syndromic Intellectual Disability 31 Autosomal Dominant Mental Retardation 31 Mrd31
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Mental Retardation, X-Linked 3 Methylmalonic Acidemia With Homocystinuria, Type Cblx MAHCX Intellectual Developmental Disorder, X-Linked 3 Xlid3 Mrx3 Methylmalonic Acidemia And Homocysteinemia Cblx Type Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblx Methylmalonic Aciduria With Homocystinuria, Type Cblx Methylmalonic Acidemia And Homocysteinemia, Cblx Type Methylmalonic Aciduria And Homocysteinemia, Cblx Type Methylmalonic Aciduria And Homocysteinemia , Cblx Type Mental Retardation, X-Linked, Type 3
Weaver Syndrome	Wss Weaver-Smith Syndrome WVS Weaver-Like Syndrome Weaver-Williams Syndrome Camptodactyly-Overgrowth-Unusual Facies Syndrome Camptodactyly - Overgrowth - Unusual Facies Ezh2 Related Overgrowth Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly Weaver Smith Syndrome Weaver Like Syndrome Weaver Williams Syndrome Camptodactyly-Overgrowth-Unusual Facies Weaver Syndrome 1 Weaver Syndrome 2 Wvs1 Wvs2
Sotos Syndrome	Cerebral Gigantism SOTOS Chromosome 5q35 Deletion Syndrome Sotos Syndrome 1, Formerly Sotos1, Formerly Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development Sotos Sequence Sotos' Syndrome Sotos1 Sotos Syndrome 1
Scoliosis
Chronic Myelomonocytic Leukemia	Leukemia, Myelomonocytic, Chronic Cmml Leukemia Myelomonocytic Chronic Cmml - [Chronic Myelomonocytic Leukaemia] Chronic Myelomonocytic Leukaemia Without Mention Of Remission Chronic Monocytic Leukaemia Chronic Monocytoid Leukaemia
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Wolf-Hirschhorn Syndrome	Pitt-Rogers-Danks Syndrome WHS Chromosome 4p16.3 Deletion Syndrome Wittwer Syndrome 4p- Syndrome Pitt Syndrome 4p Deletion Syndrome Distal Deletion 4p Distal Monosomy 4p Telomeric Deletion 4p Prds 4p Syndrome Chromosome 4p Syndrome Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation Wolf Syndrome Chromosome 4p Deletion Syndrome Chromosome 4p Monosomy Del Syndrome Monosomy 4p Partial Monosomy 4p Chromosome 4 Short Arm Deletion
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
Leukemia, Acute Myeloid	Acute Myeloid Leukemia Leukemia, Acute Myelogenous Acute Myelogenous Leukemia AML Leukemia, Acute Myeloid, Susceptibility To Acute Myeloblastic Leukemia Leukemia, Acute Myeloid, Reduced Survival In, Somatic Acute Myeloid Leukaemia Leukemia, Myelocytic, Acute Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Secondary Aml Acute Myelocytic Leukemia Acute Myeloid Leukemia, Somatic Leukemia, Acute Myeloid, Somatic Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic Acute Myeloblastic Leukaemia Acute Myelogenous Leukaemia Aml - Acute Myeloid Leukemia Acute Myeloid Leukemia With Cebpa Somatic Mutations Aml With Cebpa Somatic Mutations Inherited Acute Myeloid Leukemia Familial Aml Inherited Aml Pure Familial Aml Pure Familial Acute Myeloid Leukemia Secondary Acute Myeloid Leukemia Therapy-Related Aml And Myelodysplastic Syndrome Acute Myeloid Leukemia, Secondary Acute Non-Lymphoblastic Leukemia Acute Non-Lymphocytic Leukemia Acute Biphenotypic Leukemia Acute Undifferentiated Leukemia Acute Myeloblastic Leukaemia With Multilineage Dysplasia Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (17)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-15648B	GSK-J4		99.45%	Unkown
HY-15648F	GSK-J4 hydrochloride	Inhibitor	99.01%	Unkown
HY-15648	GSK-J1	Inhibitor	99.94%	Unkown
HY-138794	XL177A	Inhibitor	99.60%	Unkown
HY-107573	KDM2/7-IN-1	Inhibitor	99.9%	Unkown
HY-15648A	GSK-J2	Control	99.75%	Unkown
HY-100764	YUKA1	Inhibitor	99.15%	Unkown
HY-15648D	GSK-J1 lithium salt	Inhibitor	98.33%	Unkown
HY-138794A	(Rac)-XL177A	Inhibitor	/	Unkown
HY-RS07222	KDM6A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-138794G	XL177A (GMP)	Inhibitor	/	Unkown
HY-15648G	GSK-J1 sodium	Inhibitor	/	Unkown
HY-15648I	GSK-J2 sodium	Inhibitor	/	Unkown
HY-183618	DW-229	Degrader	/	Unkown
HY-RS16705	Kdm6a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23140	Kdm6a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24089	Uty Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	KDM6A	VGNC	VGNC:54168
Mus musculus	KDM6A	MGD	MGI:1095419
Macaca mulatta	KDM6A	VGNC	VGNC:73820
Bos taurus	KDM6A	VGNC	VGNC:56924
Rattus norvegicus	KDM6A	RGD	RGD:9275041
Others	KDM6A	NCBI