KMT2D - lysine methyltransferase 2D Gene

Also Known as ALR; KMS; MLL2; MLL4; AAD10; KABUK1; TNRC21; CAGL114

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8085

About KMT2D

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:49,018,978-49,060,794 (from NCBI)

This gene has 35 transcripts (splice variants), 232 orthologues, 19 paralogues and is associated with 209 phenotypes. Ubiquitous expression in bone marrow (RPKM 10.0), skin (RPKM 5.8) and 25 other tissues.

Summary

The protein encoded by this gene is a Histone Methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and Estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]

KMT2D Products (1)

mRNA	Protein	Name
NM_003482.4	NP_003473.3	histone-lysine N-methyltransferase 2D

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15960975	GOA
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	16603732	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	16603732	GOA
involved in positive regulation of intracellular estrogen receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	16603732	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	16603732	GOA
involved in response to estrogen	IDA IDA: Inferred from direct assay	16603732	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

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

KMT2D Protein Structure

zf-HC5HC2H

PHD

zf-HC5HC2H

FYRN

FYRC

SET

0
900
1800
2700
3600
4500
5537 a.a.

Protein Preferred Names	Protein Names
histone-lysine N-methyltransferase 2D	ALL1-related protein

KMT2D Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	KMT2D	O14686	WDR5	Homo sapiens	P61964	Anti Bait CoIP	17178841
Intra	KMT2D	O14686	WDR5	Homo sapiens	P61964	Anti Bait CoIP	24981860
Intra	KMT2D	O14686	WDR5	Homo sapiens	P61964	Anti Bait CoIP	17500065

Cross: Cross-species interaction Intra: Intraspecies interaction

KMT2D Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83805	KMT2D Antibody (YA3502)	IHC-P, FC, ELISA	Human
HY-P83805A	KMT2D Antibody (YA3502)(PBS only)	IHC-P, FC, ELISA	Human

Related Diseases

Diseases	Alias
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
Choanal Atresia-Athelia-Hypothyroidism-Delayed Puberty-Short Stature Syndrome	Kmt2d-Related Choanal Atresia-Athelia-Hypothyroidism-Delayed Puberty-Short Stature Syndrome
Dandy-Walker Syndrome	Dandy-Walker Malformation DWS Atresia Of Foramina Of Magendie And Luschka Dandy-Walker Complex Dandy-Walker Cyst Dandy-Walker Deformity Dandy Walker Cyst Dw Complex Dandy-Walker Syndrome Or Malformation Dandy-Walker Variant Mega Cisterna Magna Dwm Hydrocephalus, Internal, Dandy-Walker Type Hydrocephalus, Noncommunicating, Dandy-Walker Type Luschka-Magendie Foramina Atresia Isolated Dandy-Walker Malformation Mega-Cisterna Magna Dandy Walker Variant Atresia Of Foramen Of Luschka Atresia Of Foramen Of Magendie Congenital Blockage Of Foramen Magendie
Complement Component C1s Deficiency	C1s Deficiency C1SD
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Cavernous Sinus Meningioma	Meningioma Of The Cavernous Sinus
Intellectual Developmental Disorder, Autosomal Dominant 26	MRD26 Autism Spectrum Disorder Due To Auts2 Deficiency Mental Retardation, Autosomal Dominant 26 Autosomal Dominant Intellectual Developmental Disorder 26 Autosomal Dominant Mental Retardation 26 Autosomal Dominant Non-Syndromic Intellectual Disability 26 Asd Due To Auts2 Deficiency Auts2 Syndrome Mental Retardation, Autosomal Dominant, Type 26
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
Rubinstein Taybi Like Syndrome	Broad Terminal Phalanges Of The Thumbs And Great Toes, Antimongoloid Slant Of The Palpebral Fissures, And Characteristic Beaked Noses
Lymphoma	Lymphoid Cancer Lymphomas Lymphoid Cancers Lymphoid Neoplasm Lymphoma Nos Nhl - [Non-Hodgkin Lymphoma] Non-Hodgkin Lymphoma Non-Hodgkin Lymphoma, Nos Non-Hodgkin Malignant Lymphoma Nos
Plasma Cell Neoplasm	Plasma Cell Dyscrasia Paraproteinemias Plasma Cell Tumour Plasmacytic Tumor Multiple Myeloma Plasmacytoma Plasma Cell Tumours Plasma Cells Dyscrasia
Histiocytic Sarcoma	Malignant Histiocytosis
Myeloma, Multiple	Multiple Myeloma Plasma Cell Myeloma Kahler Disease Myelomatosis Medullary Plasmacytoma Multiple Myeloma, Resistance To Myeloma Plasma Cell Dyscrasia Kahler'S Disease Multiple Myeloma, Susceptibility To Myeloma - Multiple Kahler-Bozzolo Disease Plasma Cell Myelomas MM Plasma Cell Neoplasm Primary Systemic Amyloidosis Primary Amyloidosis Immunoglobulin Deposition Disease Plasmacytic Myeloma Multiple Myelomata Multiple Myeloma Nos Multiple Myeloma Without Mention Of Remission Monostotic Plasma Cell Myeloma Mm - [Multiple Myeloma]
Diffuse Large B-Cell Lymphoma	Dlbcl Diffuse Large B-Cell Lymphoma, Not Otherwise Specified Large B-Cell Diffuse Lymphoma Lymphoma, Large B-Cell, Diffuse Dlbcl - [Diffuse Large B-Cell Lymphoma] Diffuse Large Beta Cell Lymphoma
Endocervical Adenocarcinoma	Endocervical Carcinoma
B-Cell Lymphoma	Lymphoma, B-Cell B-Cell Lymphomas B-Cell Lymphocytic Neoplasm Lymphoma B-Cell B-Cell Lymphoma Nos
Uterine Corpus Endometrial Carcinoma
Lung Squamous Cell Carcinoma	Squamous Cell Carcinoma Of Lung Squamous Cell Lung Carcinoma Epidermoid Cell Carcinoma Of The Lung Squamous Cell Lung Cancer
Corneal Staphyloma	Staphyloma Of Cornea Congenital Staphyloma
Leukemia	Leukemias Leukaemia, Unspecified, Without Mention Of Remission Aleukemic Leukaemia Chronic Leukaemia Subacute Leukaemia Leukaemia Disorder Leukaemia Nos
Ezb Diffuse Large B-Cell Lymphoma	Ezb Dlbcl Doid:0081065
Systemic Epstein-Barr Virus Positive T-Cell Lymphoma Of Childhood	Ebv-Positive T-Cell Lymphoproliferative Disorder Of Childhood Systemic Epstein-Barr Virus-Positive T-Cell Lymphoma Of Childhood Systemic Ebv-Positive T-Cell Lymphoma Of Childhood Systemic Ebv+ T-Cell Lymphoma Of Childhood
Bladder Small Cell Carcinoma	Small Cell Bladder Cancer Small Cell Carcinoma Of The Bladder Poorly Differentiated Neuroendocrine Carcinoma Of The Bladder Sccb Small Cell Bladder Carcinoma Small Cell Carcinoma Of The Urinary Bladder
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
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Susceptibility To Lung Cancer, Protection Against Adenocarcinoma Of Lung, Somatic Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer Lung Neoplasm Carcinoma Of Lung Lung Non-Small Cell Carcinoma Non-Small Cell Lung Cancer Nsclc Lung Neoplasms Malignant Neoplasm Of Lung Alveolar Cell Carcinoma Nonsmall Cell Lung Cancer, Somatic Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer, Susceptibility To Lung Cancer, Somatic Lung Cancer, Resistance To Cancer Of Lung Cancer Of Bronchus Cancer Of The Lung Lung Malignancies Lung Malignant Tumors Malignant Lung Tumor Malignant Tumor Of Lung Pulmonary Cancer Pulmonary Carcinoma Pulmonary Neoplasms Respiratory Carcinoma LNCR Adenocarcinoma Of Lung Neoplasm Of Lung Cancer Lung Carcinoma Non-Small Cell Lung Carcinoma, Non-Small-Cell Lung Lung Cancers Lung Carcinomas Cancer, Lung Cancer, Lung, Non-Small Cell Primary Malignant Neoplasm Of Lung Bronchioloalveolar Adenocarcinoma
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
Cervical Squamous Cell Carcinoma	Squamous Cell Carcinoma Of The Cervix Uteri Squamous Cell Carcinoma Of Cervix
Squamous Cell Carcinoma	Epidermoid Carcinoma Squamous Cell Cancer Carcinoma, Squamous Cell Squamous Cell Skin Cancer Malignant Squamous Cell Tumor Squamous Carcinoma Squamous Cell Epithelioma Carcinoma Squamous Cell Neoplasms, Squamous Cell Squamous Cell Carcinoma - Category Malignant Squamous Cell Neoplasm Squamous Cell Carcinoma Of Skin
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
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
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
High-Grade B-Cell Lymphoma Double-Hit/Triple-Hit	Hgbl-Dh/Th High Grade B-Cell Lymphoma With Myc And Bcl2 Or Bcl6 Rearrangements High Grade B-Cell Lymphoma With Myc And/ Or Bcl2 And/Or Bcl6 Rearrangement
Coffin-Siris Syndrome 1	Coffin-Siris Syndrome Fifth Digit Syndrome Css CSS1 Mrd12 Mental Retardation, Autosomal Dominant 12 Hhid Dwarfism-Onychodysplasia Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features Autosomal Dominant Mental Retardation 12 Short Stature-Onychodysplasia. Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx Mental Retardation With Hypoplastic Fifth Fingernails And Toenails Short Stature-Onychodysplasia Coffin-Siris Syndrome, Type 1 Mental Retardation, Autosomal Dominant, Type 12
Paraganglioma	Chemodectoma Glomus Body Tumor Paragangliomas Carotid Body Paraganglioma Extra-Adrenal Paraganglioma
Hyperinsulinism	Hyperinsulinemia
Breast Malignant Phyllodes Tumor	Malignant Cystosarcoma Phyllodes Malignant Phyllodes Tumor Of Breast Malignant Phyllodes Tumour Of Breast Phyllodes Breast Tumor Phyllodes Tumor Of The Breast Breast Malignant Phyllodes Tumour Malignant Mammary Phyllodes Tumor Malignant Mammary Phyllodes Tumour Malignant Phyllodes Neoplasm Malignant Phyllodes Tumor Malignant Phyllodes Tumour Phyllodes Breast Neoplasm Phyllodes Breast Tumour Phyllodes Tumor, Malignant Cystosarcoma Phyllodes Cystosarcoma Phyllodes Of The Breast Phylloides Tumor Malignant Breast Phyllodes Tumor Breast Phyllodes Tumor Phyllodes Tumor Malignant Phyllodes Cystosarcoma Of Unspecified Site
Holoprosencephaly	Holoprosencephaly Sequence Hpe Hpe - [Holoprosencephaly]
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
Anus Basaloid Carcinoma	Basaloid Carcinoma Of The Anus Anal Basaloid Carcinoma
Familial Isolated Trichomegaly	Long Eyelashes Tcmgly
Noonan Syndrome 1	Noonan Syndrome NS1 Male Turner Syndrome Female Pseudo-Turner Syndrome Turner Phenotype With Normal Karyotype Noonan Syndrome With Pigmented Villonodular Synovitis Turner'S Phenotype, Karyotype Normal Familial Turner Syndrome Noonan'S Syndrome Noonan-Ehmke Syndrome Ns Pseudo-Ullrich-Turner Syndrome Turner Syndrome In Female With X Chromosome Turner-Like Syndrome Ullrich-Noonan Syndrome Noonan-Like/Multiple Giant Cell Lesion Syndrome Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions Pterygium Colli Syndrome Noonan Syndrome, Type 1 Turner Syndrome, Male
Postaxial Acrofacial Dysostosis	Miller Syndrome POADS Genee-Wiedemann Syndrome Postaxial Acrodysostosis Genee-Wiedemann Acrofacial Dysostosis Acrofacial Dysostosis, Genee-Wiedmann Type Mandibulfacial Dysostosis With Postaxial Limb Anomalies Gwafd Poads Syndrome Postaxial Acrofacial Dysostosis Syndrome Wildervanck-Smith Syndrome Acrofacial Dysostosis, Genee-Wiedemann Type Mandibulofacial Dysostosis With Postaxial Limb Anomalies Genée-Wiedemann Syndrome Chromosome 11p Deletion Syndrome
Hypoplastic Left Heart Syndrome	Hlhs Heart, Hypoplastic Left, Syndrome Hypoplasia Of The Left Heart Left Heart Hypoplasia Syndrome Hlhs - [Hypoplastic Left Heart Syndrome] Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
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
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
Childhood Medulloblastoma	Medulloblastoma, Childhood Pediatric Medulloblastoma Medulloblastoma Childhood
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
Pheochromocytoma	Pheochromocytoma, Susceptibility To Phaeochromocytoma Adrenal Gland Chromaffin Paraganglioma Adrenal Gland Chromaffinoma Adrenal Gland Paraganglioma Adrenal Gland Pheochromocytoma Chromaffin Paraganglioma Of The Adrenal Gland Intraadrenal Paraganglioma PCC Chromaffin Cell Tumor Medullary Chromaffinoma Medullary Paraganglioma Pheochromoblastoma Pheochromocytomas Chromaffin Cell Neoplasm Pheochromocytoma, Malignant
Scoliosis
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
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
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Syndromic X-Linked Intellectual Disability Nascimento Type	Mental Retardation, X-Linked Syndromic, Nascimento-Type X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome
Non-Syndromic X-Linked Intellectual Disability 93	Mrx93 X-Linked Mental Retardation With Macrocephaly
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Li-Fraumeni Syndrome	Sarcoma Family Syndrome Of Li And Fraumeni Sbla Syndrome LFS Li-Fraumeni Familiar Cancer Susceptibility Syndrome Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome Lfs1 Li Fraumeni Syndrome Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome Lfl Sbla Syndrome Li-Fraumeni-Like Syndrome Li-Fraumeni Syndrome 1
Mantle Cell Lymphoma	Lymphoma, Mantle Cell Lcm Mcl Mantle Zone Lymphoma Lymphoma Mantle-Cell Lymphoma, Mantle-Cell Malignant Lymphoma, Lymphocytic, Intermediate Differentiation, Diffuse Malignant Lymphoma - Lymphocytic, Intermediate Differentiation Diffuse Small Cleaved-Cell Lymphoma Diffuse Small Cleaved Cell Malignant Lymphoma Small Cleaved Cell Non-Hodgkin Lymphoma Diffuse Non-Hodgkin Small Cleaved Cell Lymphoma Malignant Lymphomatous Polyposis Malignant Small Cell, Noncleaved, Diffuse Lymphoma Malignant Undifferentiated Cell, Non-Burkitt Lymphoma Cleaved Cell Lymphoma Small Cell Mantle Cell Lymphoma Small Cleaved Cell Malignant Lymphoma
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
Orofacial Cleft	Cleft, Orofacial
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07404	KMT2D Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17767	Kmt2d Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24234	Kmt2d Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	KMT2D	VGNC	VGNC:42491
Bos taurus	KMT2D	VGNC	VGNC:30693
Macaca mulatta	KMT2D	VGNC	VGNC:74273
Rattus norvegicus	KMT2D	RGD	RGD:2324324
Felis catus	KMT2D	VGNC	VGNC:82445
Mus musculus	KMT2D	MGD	MGI:2682319
Others	KMT2D	NCBI