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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
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:73070198-73129296 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 37.63 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    802 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99918
 protein coding gene ChrX:73070198-73129296 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MECP2, methyl-CpG binding protein 2
  • 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:154021573-154137103 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Mecp2 mouse models; 6 with human MECP2 associations

Human Disease Mouse Models
      
IDs
 View 43 models
      
IDs
IDs
IDs
IDs
 View 1 model
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    20 with disease annotations
  • References
    23 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    151 phenotypes from 26 alleles in 46 genetic backgrounds
    51 phenotypes from multigenic genotypes
    5 images
    536 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
    209
  • GO References
    55
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
    1446
  • Tissues
    360
  • cDNA Data
    22
  • Literature Summary
    43
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 ZRU/MplStud  
    polypeptide Q9Z2D6 UniProt | EBI | MGI Sequence Detail 484 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 40
      Genomic 6
      cDNA 23
      Primer pair 10
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-16719, MGI:2148036, MGI:2442482, MGI:2442970
    References
    more
    • Summaries
      All 693
      Developmental Gene Expression 43
      Diseases 23
      Gene Ontology 55
      Phenotypes 536
    • 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:358514 Kalani L, et al., Testing the PEST hypothesis using relevant Rett mutations in MeCP2 E1 and E2 isoforms. Hum Mol Genet. 2024 Nov 5;33(21):1833-1845
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory