SETDB2 (SET domain bifurcated histone lysine methyltransferase 2)

2018-07-01  

Identity

HGNC
LOCATION
13q14.2
LOCUSID
ALIAS
C13orf4,CLLD8,CLLL8,KMT1F
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
204043302010CLLD8/KMT1F is a lysine methyltransferase that is important for chromosome segregation.35
200855992009A multi-centre study of candidate genes for wheeze and allergy: the International Study of Asthma and Allergies in Childhood Phase 2.23
267096982015Type I Interferon Induced Epigenetic Regulation of Macrophages Suppresses Innate and Adaptive Immunity in Acute Respiratory Viral Infection.18
275723072016Oncogenic roles of the SETDB2 histone methyltransferase in gastric cancer.12
290992762017SETDB2 and RIOX2 are differentially expressed among renal cell tumor subtypes, associating with prognosis and metastization.8
265726392016Left-Right Axis Differentiation and Functional Lateralization: a Haplotype in the Methyltransferase Encoding Gene SETDB2 Might Mediate Handedness in Healthy Adults.6
296948932018SETDB2 Links E2A-PBX1 to Cell-Cycle Dysregulation in Acute Leukemia through CDKN2C Repression.5
308500152019Emerging roles of H3K9me3, SETDB1 and SETDB2 in therapy-induced cellular reprogramming.5
292341672018The SETDB2 locus: evidence for a genetic link between handedness and atopic disease.3
263786532015A functional AT/G polymorphism in the 5'-untranslated region of SETDB2 in the IgE locus on human chromosome 13q14.2

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/setdb2