About   Help   FAQ
Mbd5 Gene Detail
Summary
  • Symbol
    Mbd5
  • Name
    methyl-CpG binding domain protein 5
  • Synonyms
    9430004D19Rik, C030040A15Rik, OTTMUSG00000012483
  • Feature Type
    protein coding gene
  • IDs
    MGI:2138934
    NCBI Gene: 109241
Location & Maps
more
  • Sequence Map
    Chr2:48949508-49325405 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      375898 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 28.43 cM, cytoband C1
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    MBD5, methyl-CpG binding domain protein 5
  • Vertebrate Orthologs
    8
  • Human Ortholog
    MBD5, methyl-CpG binding domain protein 5
    Orthology source: HomoloGene
  • Synonyms
    MRD1
  • Links
    NCBI Gene ID: 55777
    neXtProt AC: NX_Q9P267

  • Chr Location
    2q23.1; chr2:148021011-148513477 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Mbd5 mouse models; 1 with human MBD5 associations

Human Disease Mouse Models
       Mental Retardation, Autosomal Dominant 1; MRD1   OMIM: 156200 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    37 phenotypes from 4 alleles in 4 genetic backgrounds
    2 images
    15 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
    20
  • Chemically induced (other)
    1
  • Gene trapped
    13
  • Targeted
    6
  • Genomic Mutations
    1 involving Mbd5
  • Incidental Mutations
Mice homozgyous for a knock-out allele exhibit severe postnatal growth retardation leading to lethality by P22, decreased body, brain and liver weights, reduced IGF-I and GH levels, and abnormal glucose homeostasis.
Gene Ontology
(GO)
Classifications
less
  • 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
less
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
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000012482 VEGA Gene Model | MGI Sequence Detail 375898 C57BL/6J ±  kb
transcript OTTMUST00000029662 VEGA | MGI Sequence Detail 8543 Not Applicable  
polypeptide OTTMUSP00000013341 VEGA | MGI Sequence Detail 1728 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    1140 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 49
    Genomic 1
    cDNA 45
    Primer pair 3

    Microarray probesets 6
Other
Accession IDs
less
MGI:1924532, MGI:1924789, MGI:2138787, MGI:3705319
References
more
  • Summaries
    All 40
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 4
    Phenotypes 15
  • Earliest
    J:93290 Araki K, et al., Exchangeable gene trap using the Cre/mutated lox system. Cell Mol Biol (Noisy-le-grand). 1999 Jul;45(5):737-50
  • Latest
    J:212073 Camarena V, et al., Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome. EMBO Mol Med. 2014;6(8):1003-15

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/12/2016
MGI 6.04
The Jackson Laboratory