KMT2A - lysine methyltransferase 2A Gene

Also Known as HRX; MLL; ALL1; GAS7; HTRX; MLL1; TRX1; ALL-1; CXXC7; HTRX1; MLL1A; WDSTS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4297

About KMT2A

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:118,436,492-118,526,832 (from NCBI)

This gene has 33 transcripts (splice variants), 202 orthologues, 19 paralogues and is associated with 168 phenotypes. Ubiquitous expression in ovary (RPKM 12.8), lymph node (RPKM 6.8) and 25 other tissues.

Summary

This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]

KMT2A Products (3)

mRNA	Protein	Name
NM_001197104.2	NP_001184033.1	histone-lysine N-methyltransferase 2A isoform 1
NM_001412597.1	NP_001399526.1	histone-lysine N-methyltransferase 2A isoform 3
NM_005933.4	NP_005924.2	histone-lysine N-methyltransferase 2A isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables histone H3K4 methyltransferase activity	EXP EXP: Inferred from Experiment	22012064	GOA
enables histone H3K4 methyltransferase activity	IDA IDA: Inferred from direct assay	19187761	GOA
enables histone H3K4 methyltransferase activity	IMP IMP: Inferred from mutant phenotype	15960975	GOA
enables histone H3K4 trimethyltransferase activity	IDA IDA: Inferred from direct assay	20861184	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	10656681	GOA
enables lysine-acetylated histone binding	IDA IDA: Inferred from direct assay	19187761	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11313484	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	11313484	GOA
enables protein-cysteine methyltransferase activity	IDA IDA: Inferred from direct assay	24235145	GOA
enables unmethylated CpG binding	IDA IDA: Inferred from direct assay	16990798	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	16990798	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in T-helper 2 cell differentiation	IDA IDA: Inferred from direct assay	20484083	GOA
involved in negative regulation of DNA methylation-dependent heterochromatin formation	IMP IMP: Inferred from mutant phenotype	20010842	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	15960975	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	20861184	GOA
involved in protein-containing complex assembly	IDA IDA: Inferred from direct assay	15199122	GOA
involved in transcription initiation-coupled chromatin remodeling	IDA IDA: Inferred from direct assay	19556245	GOA
involved in transcription initiation-coupled chromatin remodeling	IMP IMP: Inferred from mutant phenotype	15960975	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of MLL1 complex	IDA IDA: Inferred from direct assay	15960975	GOA
part of MLL1 complex	IPI IPI: Inferred from physical interaction	23508102	GOA
part of histone methyltransferase complex	IDA IDA: Inferred from direct assay	19556245	GOA
located in nucleus	IDA IDA: Inferred from direct assay	11313484	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

KMT2A Protein Structure

zf-CXXC

PHD

zf-HC5HC2H

FYRN

FYRC

SET

0
700
1400
2100
2800
3500
3972 a.a.

Protein Preferred Names	Protein Names
histone-lysine N-methyltransferase 2A	Acute lymphocytic 1

KMT2A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	KMT2A	Q03164	CTR9	Homo sapiens	Q6PD62	Anti Bait CoIP	20541477
Intra	KMT2A	Q03164	CTR9	Homo sapiens	Q6PD62	Anti Tag CoIP	20541477
Intra	KMT2A	Q03164	SKP2	Homo sapiens	Q13309-1	Anti Bait CoIP	20818375
Intra	KMT2A	Q03164	SKP2	Homo sapiens	Q13309-1	Anti Tag CoIP	20818375
Intra	KMT2A	Q03164	ASH2L	Homo sapiens	Q9UBL3-3	X-Ray Diffraction	26886794
Intra	KMT2A	Q03164	ASH2L	Homo sapiens	Q9UBL3-3	GMS	26886794
Intra	KMT2A	Q03164	SIRT1	Homo sapiens	Q96EB6	Y2H	25751424
Intra	KMT2A	Q03164	SIRT1	Homo sapiens	Q96EB6	Anti Tag CoIP	25751424
Intra	KMT2A	Q03164	PAF1	Homo sapiens	Q8N7H5	Anti Tag CoIP	20541477
Cross	KMT2A	Q03164	Crebbp	Mus musculus	P45481	ITC	20969867
Intra	KMT2A	Q03164	WDR5	Homo sapiens	P61964	Anti Bait CoIP	23870121
Intra	KMT2A	Q03164	WDR5	Homo sapiens	P61964	Solution Sedimentation	19556245
Intra	KMT2A	Q03164	WDR5	Homo sapiens	P61964	SPR	18840606
Intra	KMT2A	Q03164	WDR5	Homo sapiens	P61964	Methyltransferase Ass	19556245
Intra	KMT2A	Q03164	WDR5	Homo sapiens	P61964	X-Ray Diffraction	18840606
Intra	KMT2A	Q03164	WDR5	Homo sapiens	P61964	X-Ray Diffraction	21220120
Intra	KMT2A	Q03164	WDR5	Homo sapiens	P61964	Anti Tag CoIP	20818375
Intra	KMT2A	Q03164	RBBP5	Homo sapiens	Q15291	Anti Bait CoIP	15199122
Intra	KMT2A	Q03164	RBBP5	Homo sapiens	Q15291	Solution Sedimentation	19556245
Intra	KMT2A	Q03164	RBBP5	Homo sapiens	Q15291	Methyltransferase Ass	19556245
Intra	KMT2A	Q03164	RBBP5	Homo sapiens	Q15291	Anti Bait CoIP	23870121
Intra	KMT2A	Q03164	RBBP5	Homo sapiens	Q15291	GMS	26886794
Intra	KMT2A	Q03164	RBBP5	Homo sapiens	Q15291	X-Ray Diffraction	21220120
Intra	KMT2A	Q03164	RBBP5	Homo sapiens	Q15291	X-Ray Diffraction	26886794
Intra	KMT2A	Q03164	PPIE	Homo sapiens	Q9UNP9	NMR	20541251
Intra	KMT2A	Q03164	PPIE	Homo sapiens	Q9UNP9	Y2H	11313484
Intra	KMT2A	Q03164	PPIE	Homo sapiens	Q9UNP9	Pull Down	11313484
Cross	KMT2A	Q03164	Bmal1	Mus musculus	Q9WTL8	Anti Tag CoIP	21113167
Intra	KMT2A	Q03164	H3C1	Homo sapiens	P68431	X-Ray Diffraction	20541251
Intra	KMT2A	Q03164	H3C1	Homo sapiens	P68431	NMR	20541251
Cross	KMT2A	Q03164	Clock	Mus musculus	O08785	Anti Tag CoIP	21113167
Intra	KMT2A	Q03164	KAT8	Homo sapiens	Q9H7Z6	Pull Down	15960975
Intra	KMT2A	Q03164	CDC73	Homo sapiens	Q6P1J9	Anti Tag CoIP	20541477
Intra	KMT2A	Q03164	CDC73	Homo sapiens	Q6P1J9	Anti Bait CoIP	20541477
Intra	KMT2A	Q03164	MEN1	Homo sapiens	O00255-2	X-Ray Diffraction	22327296
Intra	KMT2A	Q03164	MEN1	Homo sapiens	O00255-2	GMS	22327296

Cross: Cross-species interaction Intra: Intraspecies interaction

KMT2A Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P84475	KMT2A Antibody (YA4172)	IHC-P, ICC/IF, FC, ELISA	Human
HY-P84475A	KMT2A Antibody (YA4172)(PBS only)	IHC-P, ICC/IF, FC, ELISA	Human
HY-P85279	KMT2A Antibody (YA4971)	IHC-P, ELISA	Human
HY-P85279A	KMT2A Antibody (YA4971)(PBS only)	IHC-P, ELISA	Human

Related Diseases

Diseases	Alias
Wiedemann-Steiner Syndrome	WDSTS Hairy Elbows, Short Stature, Facial Dysmorphism, And Developmental Delay Hypertrichosis-Short Stature-Facial Dysmorphism-Developmental Delay Syndrome Wiedemann Grosse Dibbern Syndrome Kmt2a-Related Neurodevelopmental Disorder Hairy Elbows Short Stature Facial Dysmorphism And Developmental Delay Hypertrichosis Cubiti Facial Dysmorphism And Developmental Delay Wss Growth Deficiency And Mental Retardation With Facial Dysmorphism
Acute Myeloid Leukemia With T(9;11)(P22;Q23)	Aml With T(9 11)(P22 Q23)
Acute Megakaryocytic Leukemia	Acute Megakaryoblastic Leukemia Acute Megakaryoblastic Leukaemia Megakaryocytic Myelosis Thrombocytic Leukaemia Amkl Aml M7 Acute Myeloblastic Leukemia Type 7 Acute Myeloid Leukemia M7 Megakaryoblastic Leukemia Acute Leukemia, Megakaryoblastic, Acute Acute Myeloid Leukaemia, M7 Acute Megakaryocytic Leukaemia Acute Megakaryoblastic Leukaemia, Fab M7 Fab M7 Malignant Megakaryocytosis M7 - Acute Megakaryoblastic Leukaemia Megakaryoblastic Leukaemia Megakaryocytic Leukaemia Acute Megakaryoblastic Leukaemia, Nos Acute Megakaryoblastic Leukaemia Without Mention Of Remission
Mixed Phenotype Acute Leukemia With T	Mpal With T Kmt2a Rearranged Mpal With T Mll Rearranged
Mixed Phenotype Acute Leukemia With T(9;22)(Q34.1;Q11.2)	Mpal With T(9 22)(Q34.1 Q11.2) Bcr-Abl1
Rare Genetic Intellectual Disability
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
Acute Megakaryoblastic Leukemia Without Down Syndrome	Non-Ds-Amkl
Acute Biphenotypic Leukemia	Mixed Phenotype Acute Leukemia Acute Leukemia Of Ambiguous Lineage Acute Undifferentiated Leukemia Acute Leukemia Of Indeterminate Lineage Hybrid Acute Leukemia Mixed Lineage Acute Leukemia All With Myeloid Markers Aml With Lymphoid Markers Acute Leukemia Of Undetermined Lineage Bal Biphenotypic Acute Leukemia Undifferentiated Acute Leukemia Mpal Acute Myeloid Leukemia, Minimal Differentiation, Fab M0 Leukemia, Biphenotypic, Acute
Cornelia De Lange Syndrome 1	De Lange Syndrome CDLS1 Cdl Cdls Typus Degenerativus Amstelodamensis Brachmann-De Lange Syndrome Bdls Amstelodamensis Typus Degenerativus Cornelia De Lange Syndrome, Type 1
Cornelia De Lange Syndrome	De Lange Syndrome Brachmann De Lange Syndrome Brachmann-De Lange Syndrome Cdls Bdls Typus Degenerativus Amstelodamensis
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality
Acute Leukemia	Stem Cell Leukaemia Stem Cell Leukemia Acute Leukemias Acute Undifferentiated Leukemia Undifferentiated Leukemia Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission Blast Cell Leukaemia Blast Leukaemia Blastic Leukaemia Undifferentiated Leukaemia
Acute Myeloid Leukemia With Mll Rearrangement	Acute Myeloid Leukemia With Kmt2a/Mll Rearrangement Acute Myeloid Leukemia, 11q23 Abnormalities Acute Myeloid Leukemia With 11q23 Abnormalities Aml With 11q23 Abnormalities
Chronic Neutrophilic Leukemia	Cnl Leukemia Neutrophilic Chronic
Rubinstein Taybi Like Syndrome	Broad Terminal Phalanges Of The Thumbs And Great Toes, Antimongoloid Slant Of The Palpebral Fissures, And Characteristic Beaked Noses
Hairy Elbows	Hypertrichosis Cubiti Hairy Elbows Syndrome Macdermot-Patton-Williams Syndrome
B-Lymphoblastic Leukemia/Lymphoma	B Lymphoblastic Leukemia/Lymphoma B-All Precursor B Lymphoblastic Lymphoma/Leukemia C-All Lymphoblastic Lymphoma, Nos Common Precursor B All Lymphoblastic B-Cell Lymphoma Pro-B All B-Precursor Lymphoma Lbl - [Lymphoblastic Lymphoma]
Leukemia, Acute Monocytic	Acute Monocytic Leukemia Acute Monoblastic Leukemia And Acute Monocytic Leukemia Acute Monocytic Leukaemia Acute Monocytic Leukaemia Without Mention Of Remission Acute Monocytic Leukemia Without Mention Of Remission Acute Monocytic Leukemia, Fab M5 Acute Monocytic Leukemia, Morphology Leukemia, Monocytic, Acute M5b Acute Differentiated Monocytic Leukemia
Hypertrichosis
Leukemia	Leukemias Leukaemia, Unspecified, Without Mention Of Remission Aleukemic Leukaemia Chronic Leukaemia Subacute Leukaemia Leukaemia Disorder Leukaemia Nos
Acute Myelomonocytic Leukemia	Acute Myeloid Leukemia With Abnormal Bone Marrow Eosinophils Inv(16)(P13q22) Or T(16 16)(P13 Q22) Aml M4 Ammol Acute Myeloblastic Leukemia Type 4 Aml With Abnormal Bone Marrow Eosinophils Inv(16)(P13q22) Or T(16 16)(P13 Q22) Aml-M4 Aml With Inv(16)(P13.1q22) Or T(16 16)(P13.1 Q22) Cbfb-Myh11 Leukemia Myelomonocytic Acute Leukemia, Myelomonocytic, Acute Acute Myelomonocytic Leukaemia Without Mention Of Remission Myelomonocytic Leukaemia Nos
Chronic Fungal Otitis Externa	Chronic Mycotic Otitis Externa
Chromosomal Triplication	Trisomy
Childhood Acute Lymphocytic Leukemia	Childhood Acute Lymphoblastic Leukemia Childhood All Pediatric Acute Lymphoblastic Leukemia Lymphoblastic Leukemia Acute Childhood
Myeloid Sarcoma	Granulocytic Sarcoma Chloroma Extramedullary Myeloid Tumor Sarcoma, Granulocytic Sarcoma Granulocytic Sarcoma, Myeloid Myelosarcoma Myeloid Sarcoma Disease Myeloid Sarcoma Nos Myeloid Sarcoma Without Mention Of Remission
Hematologic Cancer	Hematologic Neoplasm Hematologic Neoplasms Hematologic Malignancies Blood Cancer Hematologic Malignancy Hematological Tumors Hematopoietic And Lymphoid System Tumor Hematopoietic Cancer Hematopoietic Neoplasm Hematopoietic Tumors Malignant Hematopoietic Neoplasm Liquid Tumor Hematopoietic Neoplasms
Myeloid Leukemia	Myeloid Leukaemia Leukaemia Myelogenous Leukemia Myelogenous Myeloid Granulocytic Leukaemia Myeloid Granulocytic Leukemia Non-Lymphocytic Leukemia Leukemia, Myeloid Granulocytic Leukaemia Myelogenous Leukaemia Myeloid Leukaemia, Unspecified, Without Mention Of Remission
Myelodysplastic Syndrome	Myelodysplastic Syndromes Myelodysplasia MDS Myelodysplastic Syndrome Included Myelodysplastic Syndrome, Susceptibility To, Included Myelodysplastic Syndrome, Somatic Myelodysplastic Syndrome, Susceptibility To
Childhood Leukemia
Neonatal Leukemia
Leukemia, Acute Lymphoblastic	Acute Lymphoblastic Leukemia ALL Acute Lymphocytic Leukemia Leukemia, Acute Lymphocytic, Susceptibility To, 1 Acute Lymphoblastic Leukaemia Precursor Lymphoblastic Lymphoma/Leukemia Precursor Lymphoid Neoplasm Leukemia, Acute Lymphoblastic, Susceptibility To B-Cell Acute Lymphoblastic Leukemia Leukemia, Acute Lymphocytic 1 Acute Lymphocytic Leukaemia Acute Lymphoblastic Leukemia/Lymphoma All1 Childhood Acute Lymphoblastic Leukemia Leukemia Acute Lymphoblastic 1 Leukemia Acute Lymphoblastic B-Hyperdiploid Leukemia Acute Lymphocytic Leukemia Acute Lymphocytic 1 Leukemia B-Cell Acute Lymphoblastic Leukemia T-Cell Acute Lymphoblastic Leukemia, Acute Lymphoblastic, 3 ALL3 Lymphoblastic Leukemia Acute Leukemia, Acute, Lymphoblastic Precursor Cell Lymphoblastic Leukemia Lymphoma Leukemia, Lymphocytic, Acute, L1 Leukemia, Acute Lymphoblastic, Susceptibility To, 3
Testicular Leukemia
Monocytic Leukemia	Monocytic Leukaemia Schilling'S Leukaemia Schilling'S Leukemia M5b Acute Differentiated Monocytic Leukemia
Childhood Acute Myeloid Leukemia	Childhood Acute Myeloid Leukaemia Paediatric Acute Myeloid Leukaemia Pediatric Acute Myeloid Leukemia
Lymphoblastic Lymphoma	Lymphoma, Lymphoblastic Lymphoma Lymphoblastic Precursor Cell Lymphoblastic Lymphoma Precursor Cell Lymphoblastic Leukemia Lymphoma
Familial Isolated Trichomegaly	Long Eyelashes Tcmgly
Central Nervous System Leukemia	Leukemia Of The Cns
B-Lymphoblastic Leukemia/Lymphoma With Bcr-Abl1	B-All With Bcr-Abl1 B-Lymphoblastic Leukemia/Lymphoma With T(9 22)(Q34.1 Q11.2) Bcr-Abl1 B Lymphoblastic Leukemia/Lymphoma With T(9 22)(Q34.1 Q11.2) Bcr-Abl1
Intellectual Developmental Disorder, Autosomal Dominant 10	MRD10 Mental Retardation, Autosomal Dominant 10 Autosomal Dominant Non-Syndromic Intellectual Disability 10 Autosomal Dominant Intellectual Developmental Disorder 10 Autosomal Dominant Mental Retardation 10 Mental Retardation, Autosomal Dominant, Type 10
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
Mixed Phenotype Acute Leukemia, T/Myeloid	Doid:0081039
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
Pancytopenia
Childhood Acute Megakaryoblastic Leukemia	Pediatric Non-Down Syndrome Acute Megakaryoblastic Leukemia
Precursor T-Cell Acute Lymphoblastic Leukemia	T-All Precursor T-Cell Acute Lymphoblastic Leukemia/Lymphoma Precursor T-Cell Acute Lymphocytic Leukemia Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma Precursor T-Cell Lymphoblastic Leukemia-Lymphoma Adult T-Cell Lymphoma/Leukemia
Syndromic X-Linked Intellectual Disability Nascimento Type	Mental Retardation, X-Linked Syndromic, Nascimento-Type X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome
Mixed Phenotype Acute Leukemia, B/Myeloid	Doid:0081038
Non-Syndromic X-Linked Intellectual Disability 93	Mrx93 X-Linked Mental Retardation With Macrocephaly
Kbg Syndrome	KBGS Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome
Down Syndrome	Trisomy 21 Complete Trisomy 21 Syndrome Down'S Syndrome Trisomy 21 Syndrome Down'S Syndrome - Trisomy 21 Downs Syndrome G Trisomy 47,Xx,+21 47,Xy,+21 Trisomy G Down Syndrome, Susceptibility To Chromosome 21 Trisomy Trisomy 21 Nos Abnormal Autosomes 21
Adult Acute Lymphocytic Leukemia	Adult Acute Lymphoid Leukemia Adult All
Myeloproliferative Neoplasm	Myeloproliferative Disorder Chronic Myeloproliferative Disease Myeloproliferative Neoplasms Chronic Myeloproliferative Disorder Cmpd Cmpd, U Chronic Myeloproliferative Disorders Mpd Mpn Myeloproliferative Disorders Myeloproliferative Disease Campomelic Dysplasia
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
Acute Promyelocytic Leukemia	Leukemia, Acute Promyelocytic Acute Myeloblastic Leukemia Type 3 Aml M3 APL Leukemia, Acute Promyelocytic, Somatic Aml With T(15 17)(Q22 Q12) (Pml/Raralpha) And Variants Apml Acute Myeloblastic Leukemia 3 Acute Myeloid Leukemia With T(15 17)(Q22 Q12) (Pml/Raralpha) And Variants Acute Myeloblastic Leukaemia Type 3 Acute Myeloid Leukaemia M3 Acute Myeloid Leukemia M3 Acute Promyelocytic Leukaemia M3 Anll Myeloid Leukemia, Acute, M3 Leukemia Promyelocytic Acute Leukemia, Promyelocytic, Acute Leukemia, Acute, Promyelocytic
Myeloproliferative Syndrome, Transient	Transient Abnormal Myelopoiesis Transient Myeloproliferative Syndrome Transient Myeloproliferative Disease Mst Tam Leukemia, Transient, Of Down Syndrome Tmd Leukemia, Transient Transient Leukemia Transient Leukemia Of Down Syndrome
Leukemia, Chronic Myeloid	Chronic Myeloid Leukemia Chronic Myelogenous Leukemia CML Chronic Granulocytic Leukemia Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib Chronic Myeloid Leukaemia Chronic Granulocytic Leukaemia Chronic Myelogenous Leukaemia Myeloid Leukemia, Chronic Leukemia, Chronic Myelogenous Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic Cml - Chronic Myelogenous Leukemia Cgl Chronic Myelocytic Leukemia Leukemia, Chronic Myeloid, Atypical ACML Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative Myeloid Leukemia Chronic Leukemia, Myeloid, Chronic Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative Cml- [Chronic Myeloid Leukaemia] Cgl - [Chronic Granulocytic Leukaemia] Chronic Myelocytic Leukaemia
Lymphoma, Non-Hodgkin, Familial	Non-Hodgkin Lymphoma Lymphoma, Non-Hodgkin NHL Lymphoma, Non-Hodgkin, Somatic Lymphoma, Follicular, Somatic Familial Non-Hodgkin Lymphoma Lymphoma Non-Hodgkins Follicular Lymphoma, Somatic Lymphosarcoma Non-Hodgkins Lymphoma
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
Colon Leiomyoma	Colonic Leiomyoma
Juvenile Myelomonocytic Leukemia	Leukemia, Juvenile Myelomonocytic JMML Leukemia, Juvenile Myelomonocytic, Somatic Juvenile Chronic Myelomonocytic Leukemia Juvenile Chronic Myelogenous Leukemia Leukemia, Myelomonocytic, Juvenile Juvenile Myelomonocytic Leukaemia Without Mention Of Remission
Leukemia, Chronic Lymphocytic	Chronic Lymphocytic Leukemia B-Cell Chronic Lymphocytic Leukemia CLL B-Cell Chronic Lymphoid Leukemia Chronic Lymphatic Leukemia Chronic Lymphocytic Leukaemia Lymphoplasmacytic Leukemia Small Lymphocytic Lymphoma Leukemia, Chronic Lymphatic B-Cell Chronic Lymphocytic Leukaemia Chronic Lymphatic Leukaemia Lymphoplasmacytic Leukaemia B Cell Chronic Lymphocytic Leukemia Chronic B-Cell Lymphocytic Leukemia Leukemia, Lymphocytic, Chronic B-Cll Chronic Lymphoid Leukemia Leukemia Lymphocytic Chronic Lymphoma Small Lymphocytic Leukemia, Lymphocytic, Chronic, B-Cell
Syndromic Intellectual Disability

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

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (2)

Art. -Nr.	Produktname	Wirkung	Reinheit	Phase
HY-148669	Bleximenib		99.36%	Phase 2
HY-148669A	Bleximenib oxalate		98.97%	Phase 2

Pre-clinical Phase

Bioactive Molecules (9)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-156794	Enzomenib	Inhibitor	99.88%	Unkown
HY-172416	Balomenib	Inhibitor	99.81%	Unkown
HY-148669B	(S)-Bleximenib oxalate	Control	98.37%	Unkown
HY-156794A	Enzomenib enantiomer	Inhibitor	98.01%	Unkown
HY-148829	MS40	Degrader	/	Unkown
HY-170832	Menin–KMT2A-IN-1	Inhibitor	/	Unkown
HY-RS07401	KMT2A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18528	Kmt2a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25010	Kmt2a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	KMT2A	VGNC	VGNC:30690
Macaca mulatta	KMT2A	VGNC	VGNC:101297
Canis familiaris	KMT2A	VGNC	VGNC:42489
Rattus norvegicus	KMT2A	RGD	RGD:1586165
Mus musculus	KMT2A	MGD	MGI:96995
Others	KMT2A	NCBI