methyl-CpG binding protein 2

Summary
Gene Symbol
  • MECP2
Organism
Homo sapiens (human)
NCBI Gene
4204
PubChem
4204
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Autism
  • Chromosomal rearrangement
  • DNA-binding
  • Disease variant
  • Intellectual disability
  • Methylation
  • Nucleus
  • Phosphoprotein
  • Reference proteome
  • Repeat
  • Repressor
  • Transcription regulation
Proteins
Displaying all 4 entries
UniProt Protein Name
D3YJ43
A0A140VKC4
P51608
Q59FJ6
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Methyl-CpG-binding domain protein
Functional Category
  • E: Amino acid transport and metabolism
  • Q: Secondary metabolites biosynthesis, transport and catabolism
  • T: Signal transduction mechanisms
Displaying all 2 entries
InterPro
DNA-binding domain superfamily
Methyl-CpG DNA binding
Disease
Disease Ontology
Displaying all 10 entries
DO ID Disease Name Source
DOID:0050696 fetal alcohol spectrum disorder
DOID:0060799 syndromic X-linked intellectual disability Lubs type
DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome
DOID:0111932 severe congenital encephalopathy due to MECP2 mutation
DOID:11832 visual epilepsy
DOID:1206 Rett syndrome
DOID:12849 autistic disorder
DOID:224 transient cerebral ischemia
DOID:684 hepatocellular carcinoma
DOID:77 gastrointestinal system disease

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024