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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
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: HGNC, HomoloGene
  • Synonyms
    AUTSX3, MRX16, MRX79, MRXS13, MRXSL, PPMX, RS, RTS, RTT
  • Links
    NCBI Gene ID: 4204
    neXtProt AC: NX_P51608

  • Chr Location
    Xq28; chrX:154021813-154097731 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Mecp2 mouse models; 5 with human MECP2 associations

Human Disease Mouse Models
       Rett Syndrome; RTT   OMIM: 312750 View 31 models
       Autism, Susceptibility to, X-Linked 3; AUTSX3   OMIM: 300496
Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations   OMIM: 300673
Lubs X-Linked Mental Retardation Syndrome; MRXSL   OMIM: 300260 View 3 models
Mental Retardation, X-Linked, Syndromic 13; MRXS13   OMIM: 300055
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    21 with disease annotations
  • References
    40 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    133 phenotypes from 25 alleles in 38 genetic backgrounds
    59 phenotypes from multigenic genotypes
    5 images
    244 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
    45
  • Gene trapped
    9
  • Targeted
    29
  • Transgenic
    7
  • Incidental Mutations
    APF
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
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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 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
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  • SNPs within 2kb
    94 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
less
  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000010277 methyl-CpG-binding protein 2
  • InterPro Domains
    IPR016177 DNA-binding domain
    IPR017353 Methyl-CpG binding protein MeCP2
    IPR001739 Methyl-CpG DNA binding
Molecular
Reagents
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  • All nucleic 29
    Genomic 4
    cDNA 19
    Primer pair 6

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-16719, MGI:2148036, MGI:2442482, MGI:2442970
References
more
  • Summaries
    All 336
    Developmental Gene Expression 30
    Diseases 40
    Gene Ontology 44
    Phenotypes 244
  • 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:233024 Du F, et al., Acute and crucial requirement for MeCP2 function upon transition from early to late adult stages of brain maturation. Hum Mol Genet. 2016 May 1;25(9):1690-702

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
08/17/2016
MGI 6.05
The Jackson Laboratory