L3MBTL4 (L3MBTL histone methyl-lysine binding protein 4)

2010-12-01  

Identity

HGNC
L3MBTL4
LOCATION
18p11.31
LOCUSID
91133
ALIAS
HsT1031
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 91133
MIM: 617135
HGNC: 26677
Ensembl: ENSG00000154655

Variants:

dbSNP: 91133
ClinVar: 91133
TCGA: ENSG00000154655
COSMIC: L3MBTL4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000154655ENST00000317931F8W9S8
ENSG00000154655ENST00000400104Q8NA19
ENSG00000154655ENST00000400105Q8NA19
ENSG00000154655ENST00000581231J3KS41
ENSG00000154655ENST00000583054J3QLK8
ENSG00000154655ENST00000583809J3KRN7

Expression (GTEx)

0
5
10
15
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
206989512010Loss, mutation and deregulation of L3MBTL4 in breast cancers.21
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
274800262016Genome Wide Association Study Identifies L3MBTL4 as a Novel Susceptibility Gene for Hypertension.3

Citation

Dessen P

L3MBTL4 (L3MBTL histone methyl-lysine binding protein 4)

Atlas Genet Cytogenet Oncol Haematol. 2010-12-01

Online version: http://atlasgeneticsoncology.org/gene/51835/l3mbtl4