SETDB2 (SET domain bifurcated histone lysine methyltransferase 2)

2018-07-01  

Identity

HGNC
SETDB2
LOCATION
13q14.2
LOCUSID
83852
ALIAS
C13orf4,CLLD8,CLLL8,KMT1F
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 83852
MIM: 607865
HGNC: 20263
Ensembl: ENSG00000136169

Variants:

dbSNP: 83852
ClinVar: 83852
TCGA: ENSG00000136169
COSMIC: SETDB2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136169ENST00000258672X6R383
ENSG00000136169ENST00000317257Q96T68
ENSG00000136169ENST00000354234Q96T68
ENSG00000136169ENST00000611815A0A087WYZ9

Expression (GTEx)

0
5
10
15
20
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

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
381595742024Structural evidence for protein-protein interaction between the non-canonical methyl-CpG-binding domain of SETDB proteins and C11orf46.0
381595742024Structural evidence for protein-protein interaction between the non-canonical methyl-CpG-binding domain of SETDB proteins and C11orf46.0
365043532023Histone lysine methyltransferase SETDB2 suppresses NRF2 to restrict tumor progression and modulates chemotherapy sensitivity in lung adenocarcinoma.3
365043532023Histone lysine methyltransferase SETDB2 suppresses NRF2 to restrict tumor progression and modulates chemotherapy sensitivity in lung adenocarcinoma.3
344799912021Coronavirus induces diabetic macrophage-mediated inflammation via SETDB2.16
344799912021Coronavirus induces diabetic macrophage-mediated inflammation via SETDB2.16
308500152019Emerging roles of H3K9me3, SETDB1 and SETDB2 in therapy-induced cellular reprogramming.35
313501762019The Histone Methyltransferase Setdb2 Modulates Macrophage Phenotype and Uric Acid Production in Diabetic Wound Repair.49
308500152019Emerging roles of H3K9me3, SETDB1 and SETDB2 in therapy-induced cellular reprogramming.35
313501762019The Histone Methyltransferase Setdb2 Modulates Macrophage Phenotype and Uric Acid Production in Diabetic Wound Repair.49
292341672018The SETDB2 locus: evidence for a genetic link between handedness and atopic disease.4
296948932018SETDB2 Links E2A-PBX1 to Cell-Cycle Dysregulation in Acute Leukemia through CDKN2C Repression.13
292341672018The SETDB2 locus: evidence for a genetic link between handedness and atopic disease.4
296948932018SETDB2 Links E2A-PBX1 to Cell-Cycle Dysregulation in Acute Leukemia through CDKN2C Repression.13
290992762017SETDB2 and RIOX2 are differentially expressed among renal cell tumor subtypes, associating with prognosis and metastization.14

Citation

Dessen P

SETDB2 (SET domain bifurcated histone lysine methyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57538/gene-fusions-explorer/js/web-card-gene.js