MBD2
Methyl-CpG-binding domain protein 2
Also known as: MBD2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UBB5
- Gene
- MBD2
- Ensembl
- ENSG00000134046
- Chromosome
- 18
- Canonical length
- 411 aa
- Protein class
- Cancer-related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
411 residues, UniProt reviewed canonical sequence.
>Q9UBB5|MBD2
1 MRAHPGGGRC CPEQEEGESA AGGSGAGGDS AIEQGGQGSA LAPSPVSGVR REGARGGGRG
61 RGRWKQAGRG GGVCGRGRGR GRGRGRGRGR GRGRGRPPSG GSGLGGDGGG CGGGGSGGGG
121 APRREPVPFP SGSAGPGPRG PRATESGKRM DCPALPPGWK KEEVIRKSGL SAGKSDVYYF
181 SPSGKKFRSK PQLARYLGNT VDLSSFDFRT GKMMPSKLQK NKQRLRNDPL NQNKGKPDLN
241 TTLPIRQTAS IFKQPVTKVT NHPSNKVKSD PQRMNEQPRQ LFWEKRLQGL SASDVTEQII
301 KTMELPKGLQ GVGPGSNDET LLSAVASALH TSSAPITGQV SAAVEKNPAV WLNTSQPLCK
361 AFIVTDEDIR KQEERVQQVR KKLEEALMAD ILSRAADTEE MDIEMDSGDE ALocalizationUniProt · AlphaFold · HPA
Whether an antibody against MBD2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.58
- Highest tissue expression
- 33 nTPM
Expression across tissuesHPA
Tissue
- tonsil: 33 nTPM
- lymph node: 30 nTPM
- testis: 30 nTPM
- thyroid gland: 29 nTPM
- esophagus: 29 nTPM
- adipose tissue: 25 nTPM
Single-cell type
- ocular epithelial cells: 399 nCPM
- neutrophils: 342 nCPM
- kupffer cells: 328 nCPM
- urothelial cells: 280 nCPM
- endometrial glandular cells: 270 nCPM
- sertoli cells: 252 nCPM
Immune cell
- non-classical monocyte: 5 nTPM
- intermediate monocyte: 2.6 nTPM
- T-reg: 1.5 nTPM
- classical monocyte: 1.4 nTPM
- naive B-cell: 1.3 nTPM
- neutrophil: 1.2 nTPM
Brain region
- cerebellum: 17 nTPM
- hypothalamus: 16 nTPM
- basal ganglia: 16 nTPM
- cerebral cortex: 15 nTPM
- midbrain: 15 nTPM
- white matter: 14 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.52
- gnomAD pLI
- 0.35
- gnomAD missense Z
- 2.11
- DepMap mean gene effect
- -0.09
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to serotonin
- chromatin remodeling
- DNA methylation-dependent constitutive heterochromatin formation
- embryonic organ development
- maternal behavior
- negative regulation of DNA-templated transcription
- negative regulation of transcription by RNA polymerase II
- positive regulation of DNA-templated transcription
- positive regulation of Wnt signaling pathway
- protein-containing complex assembly
- regulation of cell population proliferation
- response to bisphenol A
- response to estradiol
- response to mechanical stimulus
- response to nutrient levels
- ventricular cardiac muscle tissue development
- Wnt signaling pathway
Molecular functions
- C2H2 zinc finger domain binding
- chromatin binding
- identical protein binding
- methyl-CpG binding
- molecular adaptor activity
- mRNA binding
- protein domain specific binding
- satellite DNA binding
- siRNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MBD2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MBD2 as an antibody target. Whether an autoantibody or antibody against MBD2 could matter depends on whether native MBD2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MBD2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MBD2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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