KMT2C (lysine methyltransferase 2C)

2003-02-01  

Identity

HGNC
KMT2C
LOCATION
7q36.1
LOCUSID
58508
ALIAS
HALR,KLEFS2,MLL3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000055609ENST00000262189Q8NEZ4
ENSG00000055609ENST00000355193Q8NEZ4
ENSG00000055609ENST00000360104H7BY37
ENSG00000055609ENST00000418061H7C2V8
ENSG00000055609ENST00000418673H7C212
ENSG00000055609ENST00000424877H0Y765
ENSG00000055609ENST00000452749C9J4Z5
ENSG00000055609ENST00000558084H0YMU7
ENSG00000055609ENST00000558665H0YNL4

Expression (GTEx)

0
5
10
15
20
25
30
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
Developmental BiologyREACTOMER-HSA-1266738
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
PKMTs methylate histone lysinesREACTOMER-HSA-3214841
Activation of HOX genes during differentiationREACTOMER-HSA-5619507
Activation of anterior HOX genes in hindbrain development during early embryogenesisREACTOMER-HSA-5617472

References

Pubmed IDYearTitleCitations
381469072024A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2.1
381469072024A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2.1
358705592023KMT2C Induced by FABP5P3 Aggravates Keratinocyte Hyperproliferation and Psoriasiform Skin Inflammation by Upregulating the Transcription of PIK3R3.6
366018802023Association of KMT2C/D loss-of-function variants with response to immune checkpoint blockades in colorectal cancer.4
366045942023MLL3 loss drives metastasis by promoting a hybrid epithelial-mesenchymal transition state.12
372260992023Association of MLL3 and TGF-β signaling gene polymorphisms with the susceptibility and prognostic outcomes of Stanford type B aortic dissection : MLL3 with TGF-β signal pathway association with Stanford type B AD.0
372619742023MLL3 regulates the CDKN2A tumor suppressor locus in liver cancer.3
374157382023Mutations in epigenetic regulator KMT2C detected by liquid biopsy are associated with worse survival in prostate cancer patients.3
358705592023KMT2C Induced by FABP5P3 Aggravates Keratinocyte Hyperproliferation and Psoriasiform Skin Inflammation by Upregulating the Transcription of PIK3R3.6
366018802023Association of KMT2C/D loss-of-function variants with response to immune checkpoint blockades in colorectal cancer.4
366045942023MLL3 loss drives metastasis by promoting a hybrid epithelial-mesenchymal transition state.12
372260992023Association of MLL3 and TGF-β signaling gene polymorphisms with the susceptibility and prognostic outcomes of Stanford type B aortic dissection : MLL3 with TGF-β signal pathway association with Stanford type B AD.0
372619742023MLL3 regulates the CDKN2A tumor suppressor locus in liver cancer.3
374157382023Mutations in epigenetic regulator KMT2C detected by liquid biopsy are associated with worse survival in prostate cancer patients.3
353222992022Histone methyltransferase KMT2C plays an oncogenic role in prostate cancer.2

Citation

Dessen P

KMT2C (lysine methyltransferase 2C)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41376/gene-fusions-explorer/js/lib/js/web-card-_common.js