KMT2B (lysine methyltransferase 2B)

2003-02-01  

Identity

HGNC
KMT2B
LOCATION
19q13.12
LOCUSID
9757
ALIAS
CXXC10,DYT28,HRX2,MLL1B,MLL2,MLL4,TRX2,WBP-7,WBP7
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9757
MIM: 606834
HGNC: 15840
Ensembl: ENSG00000272333

Variants:

dbSNP: 9757
ClinVar: 9757
TCGA: ENSG00000272333
COSMIC: KMT2B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000272333ENST00000420124Q9UMN6

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Lysine degradationKEGGko00310
Lysine degradationKEGGhsa00310
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
PKMTs methylate histone lysinesREACTOMER-HSA-3214841

References

Pubmed IDYearTitleCitations
374811582024Histone H4K16ac Binding Function of the Triple PHD Finger Cassette of MLL4.1
379754952024LncRNA SEMA3B-AS1 suppresses the tumor-initiating characteristics of triple negative breast cancer via engaging in MLL4-mediated H3K4 trimethylation.0
387430222024[Phenotypic and genotypic spectrum of KMT2B dystonia. Description of three Colombian patients].0
374811582024Histone H4K16ac Binding Function of the Triple PHD Finger Cassette of MLL4.1
379754952024LncRNA SEMA3B-AS1 suppresses the tumor-initiating characteristics of triple negative breast cancer via engaging in MLL4-mediated H3K4 trimethylation.0
387430222024[Phenotypic and genotypic spectrum of KMT2B dystonia. Description of three Colombian patients].0
365940872023Histone Methyltransferase KMT2B Promotes Metastasis and Angiogenesis of Cervical Cancer by Upregulating EGF Expression.2
365940872023Histone Methyltransferase KMT2B Promotes Metastasis and Angiogenesis of Cervical Cancer by Upregulating EGF Expression.2
345906852022Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.7
354150072022A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members.2
355062542022Comparison of methylation episignatures in KMT2B- and KMT2D-related human disorders.7
356401562022Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase 2D (KMT2D/MLL4).1
345906852022Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.7
354150072022A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes among Family Members.2
355062542022Comparison of methylation episignatures in KMT2B- and KMT2D-related human disorders.7

Citation

Dessen P

KMT2B (lysine methyltransferase 2B)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41377/kmt2b