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 chromatin and nucleus. Used to study Rett syndrome. Human ortholog(s) of this gene implicated in Rett syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome; autistic disorder; and syndromic X-linked intellectual disability Lubs type. Is expressed in several structures, including heart; kidney; muscle; nervous system; and skeletal system. Orthologous to human MECP2 (methyl-CpG binding protein 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

9 figures from 9 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:111857 (1 image)

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	Intellectual developmental disorder, X-linked syndromic, Lubs type	300260
X-linked intellectual disability-psychosis-macroorchidism syndrome	Alliance	Intellectual developmental disorder, X-linked syndromic 13	300055
		{Autism susceptibility, X-linked 3}	300496

Associated With mecp2 Via Experimental Models

Human Disease	Fish	Conditions	Citations
Rett syndrome	mecp2^fh232/fh232 (AB)	standard conditions	Pietri et al., 2013
Rett syndrome	WT + CRISPR1-mecp2	standard conditions	Gao et al., 2015
Rett syndrome	WT + MO2-mecp2	standard conditions	Gao et al., 2015
Rett syndrome	AB + MO5-mecp2	standard conditions	Leong et al., 2015
Rett syndrome	mecp2^fh232/fh232	standard conditions	(2)

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
Family	IPR045138	Methyl-CpG binding protein MeCP2/MBD4
Homologous_superfamily	IPR016177	DNA-binding domain superfamily