MBD4

The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains an MBD domain at the N-terminus that functions both in binding to methylated DNA and in protein interactions and a C-terminal mismatch-specific glycosylase domain that is involved in DNA repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]

Description

Methyl-CpG binding domain 4, DNA glycosylase

Tissue specificity

Low tissue specificity

Subcell location

Nuclear speckles

Predicted location

Intracellular

Protein family

Cancer-related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

3 (129430947 - 129440179)

Ensembl ID

ENSG00000129071  (ver. 103.38)

Orthologs

Mouse Mbd4: ENSMUSG00000030322

UniProt

O95243

neXtProt

NX_O95243

Human splice variants
Mouse splice variants

Protein structure