KMT2B - lysine methyltransferase 2B Gene

Homo sapiens

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

Gene ID: 9757 | Gene type: protein coding

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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07402	KMT2B Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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