KMT5B (lysine methyltransferase 5B)

2016-01-01  

Identity

HGNC
KMT5B
LOCATION
11q13.2
LOCUSID
51111
ALIAS
CGI-85,CGI85,MRD51,SUV420H1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51111
MIM: 610881
HGNC: 24283
Ensembl: ENSG00000110066

Variants:

dbSNP: 51111
ClinVar: 51111
TCGA: ENSG00000110066
COSMIC: KMT5B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110066ENST00000304363Q4FZB7
ENSG00000110066ENST00000323599H7BXP2
ENSG00000110066ENST00000401547Q4FZB7
ENSG00000110066ENST00000402185B7WNX0
ENSG00000110066ENST00000402789B5MCB3
ENSG00000110066ENST00000405515Q4FZB7
ENSG00000110066ENST00000427752F8WFA4
ENSG00000110066ENST00000434573C9JP58
ENSG00000110066ENST00000441488Q4FZB7
ENSG00000110066ENST00000453170C9J6S5
ENSG00000110066ENST00000458496C9JFG1
ENSG00000110066ENST00000615954Q4FZB7

Expression (GTEx)

0
5
10
15
20
25
30
35
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
380825502024Histone methyltransferase SUV420H1/KMT5B contributes to poor prognosis in hepatocellular carcinoma.1
380825502024Histone methyltransferase SUV420H1/KMT5B contributes to poor prognosis in hepatocellular carcinoma.1
368979412023Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.3
375955552023Catalytic and non-catalytic mechanisms of histone H4 lysine 20 methyltransferase SUV420H1.1
368979412023Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.3
375955552023Catalytic and non-catalytic mechanisms of histone H4 lysine 20 methyltransferase SUV420H1.1
353319282022Loss-of-function of KMT5B leads to neurodevelopmental disorder and impairs neuronal development and neurogenesis.7
353319282022Loss-of-function of KMT5B leads to neurodevelopmental disorder and impairs neuronal development and neurogenesis.7
342474922021Epigenetic Regulation by Suv4-20h1 in Cardiopulmonary Progenitor Cells Is Required to Prevent Pulmonary Hypertension and Chronic Obstructive Pulmonary Disease.9
347163502021Genome-wide association study identifies susceptibility loci for acute myeloid leukemia.13
342474922021Epigenetic Regulation by Suv4-20h1 in Cardiopulmonary Progenitor Cells Is Required to Prevent Pulmonary Hypertension and Chronic Obstructive Pulmonary Disease.9
347163502021Genome-wide association study identifies susceptibility loci for acute myeloid leukemia.13
330286322020Inhibition of the SUV4-20 H1 histone methyltransferase increases frataxin expression in Friedreich's ataxia patient cells.5
330286322020Inhibition of the SUV4-20 H1 histone methyltransferase increases frataxin expression in Friedreich's ataxia patient cells.5
312557062019Somatic Cancer Mutations in the SUV420H1 Protein Lysine Methyltransferase Modulate Its Catalytic Activity.7

Citation

Dessen P

KMT5B (lysine methyltransferase 5B)

Atlas Genet Cytogenet Oncol Haematol. 2016-01-01

Online version: http://atlasgeneticsoncology.org/gene/77843