KMT2B - lysine methyltransferase 2B Gene

Also Known as HRX2; MLL2; MLL4; TRX2; WBP7; DYT28; MLL1B; MRD68; WBP-7; CXXC10

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9757

About KMT2B

Cytogenetic location: 19q13.12 Genomic coordinates (GRCh38): 19:35,718,003-35,738,878 (from NCBI)

This gene has 29 transcripts (splice variants), 133 orthologues, 19 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 15.2), spleen (RPKM 7.9) and 25 other tissues.

Summary

This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human Cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq, Jul 2008]

KMT2B Products (1)

mRNA	Protein	Name
NM_014727.3	NP_055542.1	histone-lysine N-methyltransferase 2B

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables histone H3K4 methyltransferase activity	IMP IMP: Inferred from mutant phenotype	17166833	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17021013	GOA
enables unmethylated CpG binding	IDA IDA: Inferred from direct assay	29276034	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	29276034	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of MLL1/2 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

Protein Preferred Names	Protein Names
histone-lysine N-methyltransferase 2B	WW domain binding protein 7

KMT2B Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	KMT2B	Q9UMN6	NCK1	Homo sapiens	P16333	Peptide Array	17474147
Intra	KMT2B	Q9UMN6	WDR5	Homo sapiens	P61964	Anti Tag CoIP	23995757
Intra	KMT2B	Q9UMN6	WDR5	Homo sapiens	P61964	Pull Down	18840606
Intra	KMT2B	Q9UMN6	WDR5	Homo sapiens	P61964	ITC	24788516
Intra	KMT2B	Q9UMN6	WDR5	Homo sapiens	P61964	Anti Bait CoIP	23995757
Intra	KMT2B	Q9UMN6	NCOA6	Homo sapiens	Q14686	Anti Bait CoIP	17021013
Intra	KMT2B	Q9UMN6	NCOA6	Homo sapiens	Q14686	GMS	19433796
Intra	KMT2B	Q9UMN6	NCOA6	Homo sapiens	Q14686	Ion Exchange Chrom	19433796

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Dystonia 28, Childhood-Onset	DYT28 Dystonia, Type 28, Childhood-Onset
Intellectual Developmental Disorder, Autosomal Dominant 68	MRD68 Mental Retardation, Autosomal Dominant 68
Kmt2b-Related Dystonia	Dyt-Kmt2b Dyt28
Dystonia 28	Dyt28 Kmt2b-Related Dystonia
Dystonia 12	DYT12 Rdp Generalized Dystonia Dystonia-12 Rapid-Onset Dystonia-Parkinsonism Familial Dystonia Dystonia Musculorum Deformans Dystonic Disorders Idiopathic Familial Dystonia Dystonia-Parkinsonism, Rapid-Onset Fragments Of Torsion Dystonia Dyt-Atp1a3 Rapid-Onset Dystonia Parkinsonism Rodp Dystonia, Type 12 Dystonia 3, Torsion, X-Linked Idiopathic Non-Familial Dystonia Symptomatic Torsion Dystonia Dystonia Disorders
Myoclonus
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Specific Learning Disability	Specific Learning Difficulty Specific Learning Disorder
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
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
Leukemia	Leukemias Leukaemia, Unspecified, Without Mention Of Remission Aleukemic Leukaemia Chronic Leukaemia Subacute Leukaemia Leukaemia Disorder Leukaemia Nos
Uterine Corpus Endometrial Carcinoma
Spasmodic Dystonia	Laryngeal Dystonia
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	PEOA4 Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 4 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 4 Chronic Progressive External Ophthalmoplegia Progressive External Ophthalmoplegia, Autosomal Dominant 4 Autosomal Dominant Progressive External Ophthalmoplegia 4 Cpeo Graefe Disease Mitochondrial Ocular Myopathy Ocular Myopathy Of Von Graefe-Fuchs Progressive External Ophthalmoplegia Autosomal Dominant 4 Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 4 Kearns-Sayre Syndrome
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
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
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
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
Multiple Endocrine Neoplasia, Type I	Multiple Endocrine Neoplasia Type 1 MEN1 Wermer Syndrome Multiple Endocrine Neoplasia 1 Multiple Endocrine Neoplasia, Type 1 Men I Endocrine Adenomatosis, Multiple Mea I Men Type I Wermer'S Syndrome Men1 Syndrome Multiple Endocrine Adenomatosis Endocrine Adenomatosis Multiple Men 1 Familial Multiple Endocrine Neoplasia Type I Neoplasia, Endocrine, Multiple, Type 1 Multiple Endocrine Neoplasia
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
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

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 (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07402	KMT2B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17767	Kmt2d Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20975	Kmt2b Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27492	Kmt2b Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	KMT2B	RGD	RGD:7678027
Mus musculus	KMT2B	MGD	MGI:109565
Felis catus	KMT2B	VGNC	VGNC:63161
Bos taurus	KMT2B	VGNC	VGNC:30691
Macaca mulatta	KMT2B	VGNC	VGNC:74053
Canis familiaris	KMT2B	VGNC	VGNC:82288
Others	KMT2B	NCBI