Gene

mecp2

ID
ZDB-GENE-030131-7190
Name
methyl CpG binding protein 2
Symbol
mecp2 Nomenclature History
Previous Names
  • wu:fk96a04
  • zgc:111857
Type
protein_coding_gene
Location
Chr: 8 Mapping Details/Browsers
Description
Exhibits DNA-binding transcription factor activity. Involved in several processes, including nervous system development; neuromuscular junction development; and sensory perception of touch. Predicted to localize to heterochromatin and nucleus. Is expressed in several structures, including heart; kidney; muscle; nervous system; and skeletal system. Used to study Rett syndrome. Human ortholog(s) of this gene implicated in Rett syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome; autistic disorder; severe congenital encephalopathy due to MECP2 mutation; and syndromic X-linked intellectual disability Lubs type. Orthologous to human MECP2 (methyl-CpG binding protein 2).
Genome Resources
Note
None
Expression
All Expression Data
7 figures from 7 publications
Cross-Species Comparison
High Throughput Data
No data available
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
24 figures from 6 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With mecp2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Rett syndrome Alliance Rett syndrome 312750
Rett syndrome Alliance Rett syndrome, atypical 312750
Rett syndrome Alliance Rett syndrome, preserved speech variant 312750
severe congenital encephalopathy due to MECP2 mutation Alliance Encephalopathy, neonatal severe 300673
syndromic X-linked intellectual disability Lubs type Alliance Mental retardation, X-linked syndromic, Lubs type 300260
X-linked intellectual disability-psychosis-macroorchidism syndrome Alliance Mental retardation, X-linked, syndromic 13 300055
{Autism susceptibility, X-linked 3} 300496
Associated With mecp2 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001739 Methyl-CpG DNA binding
Family IPR017353 Methyl-CpG binding protein MeCP2
Homologous_superfamily IPR016177 DNA-binding domain superfamily
Domain Details Per Protein
Protein Length DNA-binding domain superfamily Methyl-CpG binding protein MeCP2 Methyl-CpG DNA binding
UniProtKB:Q567M8 523
UniProtKB:Q7T2T7 524
UniProtKB:A8WIP2 523
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-mecp2 polyclonal Rabbit
  • IHC
  • WB
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations