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  2. MBD3 - methyl-CpG binding domain protein 3 Gene

MBD3 - methyl-CpG binding domain protein 3 Gene

Homo sapiens
Gene ID: 53615 | Gene type: protein coding

About MBD3

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:1,573,596-1,592,865 (from NCBI)

This gene has 11 transcripts (splice variants), 234 orthologues and 8 paralogues. Ubiquitous expression in placenta (RPKM 23.4), fat (RPKM 18.3) and 25 other tissues.

Summary

DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. This gene belongs to a family of nuclear proteins which are characterized by the presence of a methyl-CpG binding domain (MBD). The encoded protein is a subunit of the NuRD, a multisubunit complex containing nucleosome remodeling and histone deacetylase activities. Unlike the other family members, the encoded protein is not capable of binding to methylated DNA. The protein mediates the association of metastasis-associated protein 2 with the core histone deacetylase complex. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

MBD3 Products(2)

mRNA Protein Name
NM_001281453.2 NP_001268382.1 methyl-CpG-binding domain protein 3 isoform 1
NM_001281454.2 NP_001268383.1 methyl-CpG-binding domain protein 3 isoform 2

MBD3 Protein Structure

MBD

MBD: Methyl-CpG binding domain (1 - 69)

MBD_C

MBD_C: C-terminal domain of methyl-CpG binding protein 2 and 3 (150 - 243)

  • 0
  • 100
  • 200
  • 291 a.a.
Protein Preferred Names Protein Names

methyl-CpG-binding domain protein 3

Related Diseases

Diseases Alias
Hutchinson-Gilford Progeria Syndrome

Progeria

HGPS

Hutchinson-Gilford Syndrome

Hutchinson-Gilford Progeria

Hutchinson Gilford Syndrome

Hutchinson Gilford Progeria Syndrome

Hutchinson-Gilford Disease

Progeria Of Childhood

Hutchinson-Gilford-Progeria Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus MBD3 VGNC VGNC:31274
Canis familiaris MBD3 VGNC VGNC:43050
Macaca mulatta MBD3 VGNC VGNC:81470
Rattus norvegicus MBD3 RGD RGD:1307389
Felis catus MBD3 VGNC VGNC:68199
Mus musculus MBD3 MGD MGI:1333812