• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


MECP2 methyl CpG binding protein 2 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001110792 Homo sapiens methyl CpG binding protein 2 (MECP2), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_004992 Homo sapiens methyl CpG binding protein 2 (MECP2), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_005274681 PREDICTED: Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_005274682 PREDICTED: Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $549.00 14
XM_005274683 PREDICTED: Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $549.00 14
XM_006724819 PREDICTED: Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant X4, mRNA. GenEZ ORF Cloning On-demand $449.00 14

*Business Day

Related Services

Gene Symbol MECP2
Entrez Gene ID 4204
Full Name methyl CpG binding protein 2
Synonyms AUTSX3, MRX16, MRX79, MRXS13, MRXSL, PPMX, RS, RTS, RTT
General protein information
Preferred Names
methyl-CpG-binding protein 2
Names
methyl-CpG-binding protein 2
meCp-2 protein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xq28

Summary DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females. [provided by RefSeq, Jul 2009].
Disorder

MIM: 300005

Rett syndrome, 312750 (3); Mental retardation, X-linked, syndromic

mRNA Protein Product Sequence Price Select
NM_001110792, 160707949 NP_001104262, 160707950 methyl-CpG-binding protein 2 isoform 2 ORF Sequence $550.00
NM_004992, 160707948 NP_004983, 4826830 methyl-CpG-binding protein 2 isoform 1 ORF Sequence $550.00
XM_005274681, 578838853 XP_005274738, 530422797 methyl-CpG-binding protein 2 isoform X1 ORF Sequence $550.00
XM_005274682, 578838854 XP_005274739, 530422799 methyl-CpG-binding protein 2 isoform X2 ORF Sequence $400.00
XM_005274683, 578838855 XP_005274740, 530422801 methyl-CpG-binding protein 2 isoform X3 ORF Sequence $400.00
XM_006724819, 578838856 XP_006724882, 578838857 methyl-CpG-binding protein 2 isoform X4 ORF Sequence $300.00
WikiPathways
WP706SIDS Susceptibility Pathways
Homo sapiens (human)MECP2NP_004983.1
Pan troglodytes (chimpanzee)MECP2XP_521333.3
Macaca mulatta (Rhesus monkey)MECP2XP_001088566.2
Canis lupus familiaris (dog)MECP2XP_853488.1
Bos taurus (cattle)MECP2NP_001193481.1
Mus musculus (house mouse)Mecp2NP_034918.1
Rattus norvegicus (Norway rat)Mecp2NP_073164.2
Danio rerio (zebrafish)mecp2NP_997901.1
Xenopus (Silurana) tropicalis (western clawed frog)mecp2NP_001135563.1
Process
IDNameEvidence
GO:0000122negative regulation of transcription from RNA polymerase II promoterTAS
GO:0001662behavioral fear responseIEA
GO:0001666response to hypoxiaIEA
GO:0001964startle responseIEA
GO:0001976neurological system process involved in regulation of systemic arterial blood pressureIEA
GO:0002087regulation of respiratory gaseous exchange by neurological system processIEA
GO:0006020inositol metabolic processIEA
GO:0006122mitochondrial electron transport, ubiquinol to cytochrome cIEA
GO:0006342chromatin silencingIEA
GO:0006349regulation of gene expression by genetic imprintingIEA
GO:0006351transcription, DNA-templatedIEA
GO:0006541glutamine metabolic processIEA
GO:0007416synapse assemblyIEA
GO:0007585respiratory gaseous exchangeIEA
GO:0007616long-term memoryIEA
GO:0008104protein localizationIEA
GO:0008211glucocorticoid metabolic processIEA
GO:0008284positive regulation of cell proliferationIEA
GO:0008344adult locomotory behaviorIEA
GO:0008542visual learningIEA
GO:0009405pathogenesisIEA
GO:0009790embryo developmentIEA
GO:0009791post-embryonic developmentIEA
GO:0016358dendrite developmentIEA
GO:0016571histone methylationIEA
GO:0016573histone acetylationIEA
GO:0019230proprioceptionIEA
GO:0019233sensory perception of painIEA
GO:0021549cerebellum developmentIEA
GO:0021591ventricular system developmentIEA
GO:0031061negative regulation of histone methylationIEA
GO:0032048cardiolipin metabolic processIEA
GO:0035067negative regulation of histone acetylationIEA
GO:0035176social behaviorIEA
GO:0042551neuron maturationIEA
GO:0043524negative regulation of neuron apoptotic processIEA
GO:0045892negative regulation of transcription, DNA-templatedIDA
GO:0045893positive regulation of transcription, DNA-templatedIEA
GO:0046470phosphatidylcholine metabolic processIEA
GO:0050432catecholamine secretionIEA
GO:0051965positive regulation of synapse assemblyIEA
GO:0060079regulation of excitatory postsynaptic membrane potentialIEA
GO:0060291long-term synaptic potentiationIEA
Component
IDNameEvidence
GO:0000792heterochromatinIDA
GO:0005615extracellular spaceIDA
GO:0005634nucleusIDA
GO:0005829cytosolIEA
Function
IDNameEvidence
GO:0003677DNA bindingTAS
GO:0003682chromatin bindingIEA
GO:0003700sequence-specific DNA binding transcription factor activityIEA
GO:0003714transcription corepressor activityTAS
GO:0003729mRNA bindingIEA
GO:0005515protein bindingIPI
GO:0008134transcription factor bindingIEA
GO:0008327methyl-CpG bindingIEA
GO:0010385double-stranded methylated DNA bindingIMP
GO:0019904protein domain specific bindingIPI
GO:0035197siRNA bindingIEA
GO:0044822poly(A) RNA bindingIDA
GO:0047485protein N-terminus bindingIPI
GeneCards MECP2
UniProt P51608, Q59FJ6, D3YJ43
Vega OTTHUMG00000024229
MIM 300005
Ensembl ENSG00000169057
HGNC 6990
HPRD 02050

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the MECP2 gene?

The MECP2 gene provides instructions for making a protein called MeCP2. The exact function of this protein is unclear. It appears to help regulate gene activity (expression) by modifying chromatin, the complex of DNA and protein that packages DNA into chromosomes. The MeCP2 protein is present in cells throughout the body, although it is particularly abundant in brain cells.

In the brain, the MeCP2 protein is important for the function of several types of cells, including nerve cells (neurons). The protein likely plays a role in maintaining connections (synapses) between neurons, where cell-to-cell communication occurs. Many of the genes that are known to be regulated by the MeCP2 protein play a role in normal brain function, particularly the maintenance of synapses.

Researchers believe that the MeCP2 protein is also involved in processing molecules called messenger RNA (mRNA), which serve as genetic blueprints for making proteins. By cutting and rearranging mRNA molecules in different ways, the MeCP2 protein controls the production of different versions of certain proteins. This process is known as alternative splicing. In the brain, the alternative splicing of proteins is critical for normal communication between neurons and may also be necessary for the function of other types of brain cells.

Interactant

Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.