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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
    genome feature page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:48839511-49209702 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 28.43 cM, cytoband C1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    8940 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2138934
 protein coding gene Chr2:48839511-49215417 (+)
129S1/SvImJ ENSMUSG00200010129
 protein coding gene Chr2:46103698-46177510 (+)
A/J ENSMUSG00195009849
 protein coding gene Chr2:46252484-46326630 (+)
AKR/J ENSMUSG00220019868
 protein coding gene Chr2:46384093-46458246 (+)
BALB/cJ ENSMUSG00180020860
 protein coding gene Chr2:46245352-46319508 (+)
C3H/HeJ ENSMUSG00175013847
 protein coding gene Chr2:46276772-46350922 (+)
C57BL/6NJ ENSMUSG00215008607
 protein coding gene Chr2:46290996-46365151 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023544
 protein coding gene Chr2:44341367-44708501 (+)
CAST/EiJ ENSTCUG00005001443
 protein coding gene Chr2:45839934-45913020 (+)
CBA/J ENSMUSG00210000895
 protein coding gene Chr2:46290088-46364232 (+)
DBA/2J ENSMUSG00185002514
 protein coding gene Chr2:46150221-46224373 (+)
FVB/NJ ENSMUSG00205001721
 protein coding gene Chr2:45922455-45996333 (+)
JF1/MsJ ENSUMUG00000000519
 protein coding gene Chr2:45969853-46041764 (+)
LP/J ENSMUSG00230000727
 protein coding gene Chr2:48075018-48149163 (+)
NOD/ShiLtJ ENSMUSG00190001584
 protein coding gene Chr2:46205351-46279501 (+)
NZO/HlLtJ ENSMUSG00225000456
 protein coding gene Chr2:55781265-55855418 (+)
PWK/PhJ ENSLUMG00010004192
 protein coding gene Chr2:46136084-46207942 (+)
SPRET/EiJ ENSMSPG00010010372
 protein coding gene Chr2:47085838-47159498 (+)
WSB/EiJ ENSIUOG00005001189
 protein coding gene Chr2:46244109-46317965 (+)



Homology
more
  • Human Ortholog
    MBD5, methyl-CpG binding domain protein 5
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MBD5, methyl-CpG binding domain protein 5
  • Synonyms
    C2DELq23.1, DEL2Q23.1, MRD1
  • Links
    NCBI Gene ID: 55777
    UniProt: Q9P267

  • Chr Location
    2q23.1; chr2:148020927-148516971 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Mbd5 mouse models; 2 with human MBD5 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
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
    40 phenotypes from 4 alleles in 4 genetic backgrounds
    2 images
    21 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.
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
    22
  • GO References
    7
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    649
  • Tissues
    34
  • cDNA Data
    45
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 109241 NCBI Gene Model | MGI Sequence Detail 370192 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 54
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 7
      Phenotypes 21
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory