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MBD2 methyl-CpG binding domain protein 2 [ Homo sapiens (human) ]

Gene ID: 8932, updated on 16-Feb-2020

Summary

Official Symbol
MBD2provided by HGNC
Official Full Name
methyl-CpG binding domain protein 2provided by HGNC
Primary source
HGNC:HGNC:6917
See related
Ensembl:ENSG00000134046 MIM:603547
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DMTase; NY-CO-41
Summary
DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. The protein encoded by this gene may function as a mediator of the biological consequences of the methylation signal. It is also reported that the this protein functions as a demethylase to activate transcription, as DNA methylation causes gene silencing. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
Expression
Ubiquitous expression in thyroid (RPKM 19.7), lymph node (RPKM 18.4) and 25 other tissues See more
Orthologs

Genomic context

See MBD2 in Genome Data Viewer
Location:
18q21.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (54151606..54224669, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (51677971..51751158, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1919 Neighboring gene long intergenic non-protein coding RNA 1917 Neighboring gene ribosomal protein L29 pseudogene 32 Neighboring gene small nucleolar RNA, H/ACA box 37 Neighboring gene DNA polymerase iota Neighboring gene StAR related lipid transfer domain containing 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Methyl-CpG-binding proteins MBD2 and p66alpha are identified to interact with HIV-1 Tat in Jurkat cell PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp586O0821

Gene Ontology Provided by GOA

Process Evidence Code Pubs
ATP-dependent chromatin remodeling HDA PubMed 
aging IEA
Inferred from Electronic Annotation
more info
 
cellular protein-containing complex assembly IEA
Inferred from Electronic Annotation
more info
 
cellular response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
chromatin silencing at rDNA TAS
Traceable Author Statement
more info
 
embryonic organ development IEA
Inferred from Electronic Annotation
more info
 
heart development IEA
Inferred from Electronic Annotation
more info
 
maternal behavior IEA
Inferred from Electronic Annotation
more info
 
methylation-dependent chromatin silencing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
methylation-dependent chromatin silencing IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of chromatin binding IEA
Inferred from Electronic Annotation
more info
 
regulation of DNA methylation IEA
Inferred from Electronic Annotation
more info
 
regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
response to estradiol IEA
Inferred from Electronic Annotation
more info
 
response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
response to nutrient levels IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
heterochromatin IEA
Inferred from Electronic Annotation
more info
 
histone deacetylase complex IEA
Inferred from Electronic Annotation
more info
 
nuclear chromatin HDA PubMed 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 
protein-containing complex HDA PubMed 

General protein information

Preferred Names
methyl-CpG-binding domain protein 2
Names
demethylase

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029550.1 RefSeqGene

    Range
    5120..78183
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003927.5NP_003918.1  methyl-CpG-binding domain protein 2 isoform 1

    See identical proteins and their annotated locations for NP_003918.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC090666, AF072242, AW151547
    Consensus CDS
    CCDS11953.1
    UniProtKB/Swiss-Prot
    Q9UBB5
    Related
    ENSP00000256429.3, ENST00000256429.8
    Conserved Domains (3) summary
    cd01396
    Location:151214
    MeCP2_MBD; MeCP2, MBD1, MBD2, MBD3, and MBD4 are members of a protein family that share the methyl-CpG-binding domain (MBD). The MBD, consists of about 70 residues and is defined as the minimal region required for binding to methylated DNA by a methyl-CpG-binding ...
    pfam14048
    Location:297387
    MBD_C; C-terminal domain of methyl-CpG binding protein 2 and 3
    pfam16564
    Location:227292
    MBDa; p55-binding region of Methyl-CpG-binding domain proteins MBD
  2. NM_015832.5NP_056647.1  methyl-CpG-binding domain protein 2 testis-specific isoform

    See identical proteins and their annotated locations for NP_056647.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate exon in the 3' coding region, compared to variant 1, resulting in a shorter protein (testis-specific) that has a shorter C-terminus, compared to isoform 1.
    Source sequence(s)
    AF072242, AF072246, AW274866
    Consensus CDS
    CCDS45871.1
    UniProtKB/Swiss-Prot
    Q9UBB5
    UniProtKB/TrEMBL
    A0A024R2B8
    Related
    ENSP00000464554.1, ENST00000583046.1
    Conserved Domains (1) summary
    cd01396
    Location:151214
    MeCP2_MBD; MeCP2, MBD1, MBD2, MBD3, and MBD4 are members of a protein family that share the methyl-CpG-binding domain (MBD). The MBD, consists of about 70 residues and is defined as the minimal region required for binding to methylated DNA by a methyl-CpG-binding ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    54151606..54224669 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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