KDM6A - lysine demethylase 6A Gene

Homo sapiens

Also known as UTX; KABUK2; bA386N14.2

Gene ID: 7403 | Gene type: protein coding

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

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

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

Bioactive Molecules (10)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-15648B	GSK-J4		99.64%	Unkown
HY-15648	GSK-J1	Inhibitor	99.94%	Unkown
HY-15648F	GSK-J4 hydrochloride	Inhibitor	98.83%	Unkown
HY-15648A	GSK-J2		99.76%	Unkown
HY-100764	YUKA1	Inhibitor	99.56%	Unkown
HY-107573	KDM2/7-IN-1	Inhibitor	≥99.0%	Unkown
HY-15648G	GSK-J1 sodium	Inhibitor	/	Unkown
HY-15648I	GSK-J2 sodium		/	Unkown
HY-RS07222	KDM6A Human Pre-designed siRNA Set A		/	Unkown
HY-15648D	GSK-J1 lithium salt	Inhibitor	98.26%	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

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