ImmunoDeficiency Resource (IDR)

Names

HUGO name: DNMT3B

Alias(es):

Localization

Reference sequences

Chromosomal location

Maps

Markers

Variations / Mutations

• DNMT3Bbase; Mutation registry for ICF syndrome

Other gene-based resources

Description

Protein function:

Required for genome wide de novo methylation and is essential for development. Isoforms 4 and 5 are probably not functional due to the deletion of two conserved methyltransferase motifs.

Catalytic activity:

S-adenosyl-l-methionine + DNA = s-adenosyl-l-homocysteine + DNA containing 5-methylcytosine

Subunit:

Interacts with ubl1 and ube2i9.

Subcellular location:

Nuclear

Post-translational modification:

Sumoylated

Tissue specificity:

Ubiquitous; highly expressed in fetal liver, heart, kidney, placenta, and at lower levels in spleen, colon, brain, liver, small intestine, lung, peripheral blood mononuclear cells, and skeletal muscle. Isoform 1 is expressed in all tissues except brain, skeletal muscle and PBMC, 3 is ubiquitous, 4 is expresed in all tissues except brain, skeletal muscle, lung and prostate and 5 is detectable only in testis and at very low level in brain and prostate.

Similarity:

Belongs to the C5-methyltransferase family.

Structures (PDB)

Domains

PWWP domain: 225-283

Other features

Zinc finger region Add-type: 435-527

Other related resourses:

Expression pattern for human

Animal models

Mouse