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
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:48949490-49319690 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 28.43 cM, cytoband C1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1100 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2138934
protein coding gene Chr2:48949490-49325405 (.)
129S1/SvImJ MGP_129S1SvImJ_G0025721
protein coding gene Chr2:48092548-48487703 (+)
A/J MGP_AJ_G0025697
protein coding gene Chr2:46273455-46658820 (+)
AKR/J MGP_AKRJ_G0025667
protein coding gene Chr2:47616586-48001939 (+)
BALB/cJ MGP_BALBcJ_G0025692
protein coding gene Chr2:46394441-46769939 (+)
C3H/HeJ MGP_C3HHeJ_G0025453
protein coding gene Chr2:47587038-47974623 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026138
protein coding gene Chr2:49578660-49971913 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023544
protein coding gene Chr2:44341367-44708501 (+)
CAST/EiJ MGP_CASTEiJ_G0024918
protein coding gene Chr2:47635211-48035457 (+)
CBA/J MGP_CBAJ_G0025433
protein coding gene Chr2:51436833-51838322 (+)
DBA/2J MGP_DBA2J_G0025564
protein coding gene Chr2:45905791-46282337 (+)
FVB/NJ MGP_FVBNJ_G0025526
protein coding gene Chr2:45628648-45999879 (+)
LP/J MGP_LPJ_G0025652
protein coding gene Chr2:48015336-48428343 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025557
protein coding gene Chr2:52402485-52883603 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026196
protein coding gene Chr2:47513231-47893014 (+)
PWK/PhJ MGP_PWKPhJ_G0024659
protein coding gene Chr2:45782975-46159097 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024464
protein coding gene Chr2:47662092-48051970 (+)
WSB/EiJ MGP_WSBEiJ_G0024985
protein coding gene Chr2:47747776-48157524 (+)



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, HGNC
  • Synonyms
    MRD1
  • Links
    NCBI Gene ID: 55777
    neXtProt AC: NX_Q9P267
    UniProt: Q9P267

  • Chr Location
    2q23.1; chr2:148021011-148516923 (+)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
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
    16 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 109241 NCBI Gene Model | MGI Sequence Detail 370201 C57BL/6J ±  kb
    transcript NM_029924 RefSeq | MGI Sequence Detail 7055 Not Specified  
    polypeptide B1AYB6 UniProt | EBI | MGI Sequence Detail 1498 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 50
      Genomic 2
      cDNA 45
      Primer pair 3

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1924532, MGI:1924789, MGI:2138787, MGI:3705319
    References
    more
    • Summaries
      All 45
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 6
      Phenotypes 16
    • 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:251793 Walz K, et al., The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome. Rare Dis. 2014;2(1):e967151

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory