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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
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:74026592-74085690 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 37.63 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    94 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99918
protein coding gene ChrX:74026592-74135363 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035830
protein coding gene ChrX:69811827-69870722 (-)
A/J MGP_AJ_G0035811
protein coding gene ChrX:70005651-70066009 (-)
AKR/J MGP_AKRJ_G0035736
protein coding gene ChrX:71860784-71934406 (-)
BALB/cJ MGP_BALBcJ_G0035796
protein coding gene ChrX:69030681-69089909 (-)
C3H/HeJ MGP_C3HHeJ_G0035501
protein coding gene ChrX:70286562-70349073 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036326
protein coding gene ChrX:71963531-72034326 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033170
protein coding gene ChrX:69031721-69090754 (-)
CAST/EiJ MGP_CASTEiJ_G0034792
protein coding gene ChrX:55642442-55707843 (-)
CBA/J MGP_CBAJ_G0035476
protein coding gene ChrX:73957848-74020656 (-)
DBA/2J MGP_DBA2J_G0035633
protein coding gene ChrX:69458586-69517195 (-)
FVB/NJ MGP_FVBNJ_G0035577
protein coding gene ChrX:68798277-68869571 (-)
LP/J MGP_LPJ_G0035718
protein coding gene ChrX:70594127-70658072 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035615
protein coding gene ChrX:76516173-76576797 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036348
protein coding gene ChrX:69638248-69699979 (-)
PWK/PhJ MGP_PWKPhJ_G0034491
protein coding gene ChrX:53644376-53704427 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034325
protein coding gene ChrX:56536572-56598088 (-)
WSB/EiJ MGP_WSBEiJ_G0034933
protein coding gene ChrX:68906261-68968272 (-)



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 38 models
      
IDs
IDs
View 4 models
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    22 with disease annotations
  • References
    23 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    147 phenotypes from 25 alleles in 43 genetic backgrounds
    65 phenotypes from multigenic genotypes
    5 images
    349 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.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population 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 17257 NCBI Gene Model | MGI Sequence Detail 59099 C57BL/6J ±  kb
    transcript NM_010788 RefSeq | MGI Sequence Detail 10576 C57BL/6  
    polypeptide Q9Z2D6 UniProt | EBI | MGI Sequence Detail 484 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 33
      Genomic 5
      cDNA 21
      Primer pair 6
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-16719, MGI:2148036, MGI:2442482, MGI:2442970
    References
    more
    • Summaries
      All 463
      Developmental Gene Expression 35
      Diseases 23
      Gene Ontology 45
      Phenotypes 349
    • 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:277453 Sheinerman K, et al., Brain-enriched microRNAs circulating in plasma as novel biomarkers for Rett syndrome. PLoS One. 2019;14(7):e0218623

    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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    last database update
    10/15/2019
    MGI 6.14
    The Jackson Laboratory