KMT2C (lysine methyltransferase 2C)

2003-02-01 Affiliation

Identity

HGNC

KMT2C

LOCATION

7q36.1

LOCUSID

58508

ALIAS

HALR,KLEFS2,MLL3

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 58508
MIM: 606833
HGNC: 13726
Ensembl: ENSG00000055609

Variants:

dbSNP: 58508
ClinVar: 58508
TCGA: ENSG00000055609
COSMIC: KMT2C

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000055609	ENST00000262189	Q8NEZ4
ENSG00000055609	ENST00000355193	Q8NEZ4
ENSG00000055609	ENST00000360104	H7BY37
ENSG00000055609	ENST00000418061	H7C2V8
ENSG00000055609	ENST00000418673	H7C212
ENSG00000055609	ENST00000424877	H0Y765
ENSG00000055609	ENST00000452749	C9J4Z5
ENSG00000055609	ENST00000558084	H0YMU7
ENSG00000055609	ENST00000558665	H0YNL4

Expression (GTEx)

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

Pathway	Source	External ID
Lysine degradation	KEGG	ko00310
Lysine degradation	KEGG	hsa00310
Developmental Biology	REACTOME	R-HSA-1266738
Chromatin organization	REACTOME	R-HSA-4839726
Chromatin modifying enzymes	REACTOME	R-HSA-3247509
PKMTs methylate histone lysines	REACTOME	R-HSA-3214841
Activation of HOX genes during differentiation	REACTOME	R-HSA-5619507
Activation of anterior HOX genes in hindbrain development during early embryogenesis	REACTOME	R-HSA-5617472

References

Pubmed ID	Year	Title	Citations
17500065	2007	PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex.	252
24081332	2013	The MLL3/MLL4 branches of the COMPASS family function as major histone H3K4 monomethylases at enhancers.	129
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
19240061	2009	Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.	75
21447625	2011	Four enzymes cooperate to displace histone H1 during the first minute of hormonal gene activation.	47
24211404	2014	Diabetic nephropathy induces changes in the proteome of human urinary exosomes as revealed by label-free comparative analysis.	47
26886794	2016	Structural basis for activity regulation of MLL family methyltransferases.	46
27926873	2016	FOXA1 Directs H3K4 Monomethylation at Enhancers via Recruitment of the Methyltransferase MLL3.	39
21683083	2011	HOXC6 Is transcriptionally regulated via coordination of MLL histone methylase and estrogen receptor in an estrogen environment.	34
21853109	2011	Frequent alteration of MLL3 frameshift mutations in microsatellite deficient colorectal cancer.	33

Citation

Dessen P

KMT2C (lysine methyltransferase 2C)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41376/kmt2c