About   Help   FAQ
Mecp2 Gene Detail
Summary
  • Symbol
    Mecp2
  • Name
    methyl CpG binding protein 2
  • Synonyms
    1500041B07Rik, D630021H01Rik, Mbd5, WBP10
  • Feature Type
    protein coding gene
  • IDs
    MGI:99918
    NCBI Gene: 17257
  • Gene Overview
    MyGene.info: MECP2
  • Alliance
Location & Maps
more
  • Sequence Map
    ChrX:74026592-74085690 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      59099 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 37.63 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    MECP2, methyl-CpG binding protein 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    MECP2, methyl-CpG binding protein 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AUTSX3, MRX16, MRX79, MRXS13, MRXSL, PPMX, RS, RTS, RTT
  • Links
    NCBI Gene ID: 4204
    neXtProt AC: NX_P51608
    UniProt: P51608

  • Chr Location
    Xq28; chrX:154021800-154097731 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Mecp2 mouse models; 4 with human MECP2 associations

Human Disease Mouse Models
      
IDs
View 37 models
      
IDs
IDs
View 3 models
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    22 with disease annotations
  • References
    21 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    147 phenotypes from 25 alleles in 43 genetic backgrounds
    59 phenotypes from multigenic genotypes
    5 images
    288 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.
Female mice homozygous or male mice hemizygous for a null allele exhibit premature death, behavioral and neurological abnormalities, abnormal nervous system phenotypes, abnormal breathing, and abnormal hearing. Heterozygous mice exhibit similar behavioral and neurological abnormalities.
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 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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000017654 VEGA Gene Model | MGI Sequence Detail 59099 C57BL/6J ±  kb
    transcript OTTMUST00000043832 VEGA | MGI Sequence Detail 1739 Not Applicable  
    polypeptide OTTMUSP00000019680 VEGA | MGI Sequence Detail 501 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      94 from dbSNP Build 142
    • PCR
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 29
      Genomic 4
      cDNA 19
      Primer pair 6

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-16719, MGI:2148036, MGI:2442482, MGI:2442970
    References
    more
    • Summaries
      All 405
      Developmental Gene Expression 32
      Diseases 21
      Gene Ontology 45
      Phenotypes 288
    • Earliest
      J:10374 Klemsz MJ, et al., The macrophage and B cell-specific transcription factor PU.1 is related to the ets oncogene [see comments]. Cell. 1990 Apr 6;61(1):113-24
    • Latest
      J:259471 Chen CY, et al., Defective GABAergic neurotransmission in the nucleus tractus solitarius in Mecp2-null mice, a model of Rett syndrome. Neurobiol Dis. 2018 Jan;109(Pt A):25-32

    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
    05/15/2018
    MGI 6.12
    The Jackson Laboratory