Gene: DNMT3B

Alternate names for this Gene: ICF|ICF1|M.HsaIIIB

Gene Summary: CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined.

Gene is located in Chromosome: 20

Location in Chromosome : 20q11.21

Description of this Gene: DNA methyltransferase 3 beta

Type of Gene: protein-coding

rs6058869 in DNMT3B gene and Ankylosing spondylitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs6058869 in DNMT3B gene and Cholangitis, Sclerosing PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs6058869 in DNMT3B gene and Crohn Disease PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs889145646 in DNMT3B gene and FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B PMID 27153398 2016 Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.

rs121908939 in DNMT3B gene and IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 PMID 10555141 1999 DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development.

PMID 10647011 1999 Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.

PMID 27734333 2016 A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

PMID 21120685 2011 ICF syndrome in Saudi Arabia: immunological, cytogenetic and molecular analysis.

PMID 15580563 2005 DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.

PMID 11102980 2000 Genetic variation in ICF syndrome: evidence for genetic heterogeneity.

PMID 10588719 1999 The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.

PMID 11919202 2002 Molecular enzymology of the catalytic domains of the Dnmt3a and Dnmt3b DNA methyltransferases.

rs121908941 in DNMT3B gene and Immunodeficiency syndrome, variable PMID 16543361 2006 Mutations in DNA methyltransferase DNMT3B in ICF syndrome affect its regulation by DNMT3L.

PMID 11102980 2000 Genetic variation in ICF syndrome: evidence for genetic heterogeneity.

PMID 17893117 2008 Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).

PMID 23486536 2013 Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

PMID 10647011 1999 Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.

PMID 10588719 1999 The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.

PMID 11741835 2001 DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes.

rs4911259 in DNMT3B gene and Inflammatory Bowel Diseases PMID 23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

rs4911253 in DNMT3B gene and Lymphocyte Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs6058869 in DNMT3B gene and Psoriasis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs146680938 in DNMT3B gene and Serum iron measurement PMID 28334935 2017 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation?

rs6058893 in DNMT3B gene and Serum total cholesterol measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs910083 in DNMT3B gene and Smoking PMID 28972577 2018 Genome-wide association study across European and African American ancestries identifies a SNP in DNMT3B contributing to nicotine dependence.

rs55768819 in DNMT3B gene and Suntan PMID 29739929 2018 Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.

rs6058869 in DNMT3B gene and Ulcerative Colitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.