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Mbd4 Gene Detail
Summary
  • Symbol
    Mbd4
  • Name
    methyl-CpG binding domain protein 4
  • Synonyms
    Med1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1333850
    NCBI Gene: 17193
  • Gene Overview
    MyGene.info: MBD4
Location & Maps
more
  • Sequence Map
    Chr6:115840697-115853371 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      12675 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 53.72 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    MBD4, methyl-CpG binding domain 4, DNA glycosylase
  • Vertebrate Orthologs
    7
  • Human Ortholog
    MBD4, methyl-CpG binding domain 4, DNA glycosylase
    Orthology source: HomoloGene
  • Synonyms
    MED1
  • Links
    NCBI Gene ID: 8930
    neXtProt AC: NX_O95243

  • Chr Location
    3q21.3; chr3:129430944-129440179 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    30 phenotypes from 4 alleles in 6 genetic backgrounds
    5 phenotypes from multigenic genotypes
    1 images
    13 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    9
  • Gene trapped
    2
  • Spontaneous
    1
  • Targeted
    6
  • Genomic Mutations
    1 involving Mbd4
  • Incidental Mutations
Mice homozygous for a null allele have an increased rate of DNA mutation, specifically at CpGs.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023174 VEGA Gene Model | MGI Sequence Detail 12675 C57BL/6J ±  kb
transcript OTTMUST00000056057 VEGA | MGI Sequence Detail 3614 Not Applicable  
polypeptide OTTMUSP00000026896 VEGA | MGI Sequence Detail 554 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    136 from dbSNP Build 142
  • PCR
Protein
Information
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Molecular
Reagents
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  • All nucleic 38
    Genomic 1
    cDNA 34
    Primer pair 3

    Microarray probesets 5
References
more
  • Summaries
    All 52
    Developmental Gene Expression 7
    Gene Ontology 11
    Phenotypes 13
  • Earliest
    J:50520 Hendrich B, et al., Identification and characterization of a family of mammalian methyl-CpG binding proteins. Mol Cell Biol. 1998 Nov;18(11):6538-47
  • Latest
    J:209232 Grigera F, et al., Complex relationship between mismatch repair proteins and MBD4 during immunoglobulin class switch recombination. PLoS One. 2013;8(10):e78370

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory