L3MBTL2 (L3MBTL histone methyl-lysine binding protein 2)

2014-11-01  

Identity

HGNC
L3MBTL2
LOCATION
22q13.2
LOCUSID
83746
ALIAS
H-l(3)mbt-l,L3MBT
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 83746
MIM: 611865
HGNC: 18594
Ensembl: ENSG00000100395

Variants:

dbSNP: 83746
ClinVar: 83746
TCGA: ENSG00000100395
COSMIC: L3MBTL2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100395ENST00000216237Q969R5
ENSG00000100395ENST00000216237A0A0S2Z5X6
ENSG00000100395ENST00000449635H0Y5M2
ENSG00000100395ENST00000450939H7C228
ENSG00000100395ENST00000452106Q969R5
ENSG00000100395ENST00000453659F8WBL1

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
SUMOylationREACTOMER-HSA-2990846
SUMO E3 ligases SUMOylate target proteinsREACTOMER-HSA-3108232
SUMOylation of chromatin organization proteinsREACTOMER-HSA-4551638

References

Pubmed IDYearTitleCitations
279185362017Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders.78
215963102011L3MBTL2 protein acts in concert with PcG protein-mediated monoubiquitination of H2A to establish a repressive chromatin structure.55
192338762009Methylation-state-specific recognition of histones by the MBT repeat protein L3MBTL2.38
295815932018L3MBTL2 orchestrates ubiquitin signalling by dictating the sequential recruitment of RNF8 and RNF168 after DNA damage.21
192413752009Solution structure of the FCS zinc finger domain of the human polycomb group protein L(3)mbt-like 2.3

Citation

Dessen P

L3MBTL2 (L3MBTL histone methyl-lysine binding protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/65153/l3mbtl2