Aliases for MECP2 Gene
Aliases for MECP2 Gene
- Methyl-CpG Binding Protein 2 2 3 5
- MeCp-2 Protein 3 4
- Methyl CpG Binding Protein 2 (Rett Syndrome) 2
- Testis Tissue Sperm-Binding Protein Li 41a 3
- Mental Retardation, X-Linked 16 2
- Mental Retardation, X-Linked 79 2
- Methyl CpG Binding Protein 2 2
- Methyl-CpG-Binding Protein 2 3
- Rett Syndrome 2
- AUTSX3 3
External Ids for MECP2 Gene
- HGNC: 6990
- Entrez Gene: 4204
- Ensembl: ENSG00000169057
- OMIM: 300005
- UniProtKB: P51608
Previous HGNC Symbols for MECP2 Gene
- RTT
- MRX16
- MRX79
Previous GeneCards Identifiers for MECP2 Gene
- GC0XM147424
- GC0XM149742
- GC0XM150872
- GC0XM151755
- GC0XM152808
- GC0XM152940
- GC0XM153287
- GC0XM141928
Summaries for MECP2 Gene
-
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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
GeneCards Summary for MECP2 Gene
MECP2 (Methyl-CpG Binding Protein 2) is a Protein Coding gene. Diseases associated with MECP2 include Mental Retardation, X-Linked, Syndromic 13 and Rett Syndrome. Among its related pathways are Neuroscience and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. GO annotations related to this gene include poly(A) RNA binding and chromatin binding. An important paralog of this gene is MBD4.
UniProtKB/Swiss-Prot for MECP2 Gene
-
Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A. Binds both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference for 5-methylcytosine (5mC).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MECP2 Gene
Genomics for MECP2 Gene
Regulatory Elements for MECP2 Gene
Enhancers for MECP2 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around MECP2 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the MECP2 gene promoter:
Regulatory Element Products
Genomic Location for MECP2 Gene
- Chromosome:
- X
- Start:
- 154,021,573 bp from pter
- End:
- 154,137,103 bp from pter
- Size:
- 115,531 bases
- Orientation:
- Minus strand
Genomic View for MECP2 Gene
Genes around MECP2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xq28 by Ensembl
- Xq28 by Entrez Gene
- Xq28 by HGNC
MECP2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for MECP2 Gene
Proteins for MECP2 Gene
-
Protein details for MECP2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P51608-MECP2_HUMAN
- Recommended name:
- Methyl-CpG-binding protein 2
- Protein Accession:
- P51608
- O15233
- Q6QHH9
- Q7Z384
Protein attributes for MECP2 Gene
- Size:
- 486 amino acids
- Molecular mass:
- 52441 Da
- Quaternary structure:
-
- Interacts with FNBP3 (By similarity). Interacts with CDKL5 (PubMed:15917271). Interacts with ATRX; MECP2 recruits ATRX to pericentric heterochromatin in neuronal cells (By similarity). Interacts with NCOR2 (By similarity).
- SequenceCaution:
-
- Sequence=CAD97991.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for MECP2 Gene
Post-translational modifications for MECP2 Gene
- Phosphorylated on Ser-423 in brain upon synaptic activity, which attenuates its repressor activity and seems to regulate dendritic growth and spine maturation.
- Ubiquitination at Lys130
- Modification sites at PhosphoSitePlus
Other Protein References for MECP2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore top MECP2 Antibody
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for MECP2
- Cell Signaling Technology (CST) Antibodies for MECP2 (MECP2)
-
Custom Antibody ServicesOriGene Antibodies for MECP2
- Novus Biologicals Antibodies for MECP2
-
Cloud-Clone Corp. Antibodies for MECP2
- Invitrogen Antibodies for MECP2
- antibodies-online Antibodies for MECP2: See all 216
- GeneTex MECP2 antibody for MECP2
-
Custom Antibody ServicesProSci Antibodies for MECP2
-
Santa Cruz Biotechnology (SCBT) Antibodies for MECP2
Protein Products
-
OriGene Purified Proteins for MECP2
- Search Origene for MassSpec and Protein Over-expression Lysates for MECP2
- Origene Custom Protein Services for MECP2
- ProSpec Recombinant Proteins for MECP2
-
Cloud-Clone Corp. Proteins for MECP2
- antibodies-online Proteins for MECP2: See all 13
- Search antibodies-online for peptides
- Search GeneTex for Proteins for MECP2
-
ProSci Proteins for MECP2
No data available for DME Specific Peptides for MECP2 Gene
Domains & Families for MECP2 Gene
Gene Families for MECP2 Gene
Protein Domains for MECP2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for MECP2 Gene
- GenScript: Design optimal peptide antigens:
-
- Methyl CpG binding protein 2 (C6FGV0_HUMAN)
- Truncated methyl CpG binding protein 2 transcript 1 (C6KG44_HUMAN)
- Mutant methyl CpG binding protein 2 transcript variant 1 (C6KG45_HUMAN)
- Methyl CpG binding protein 2 isoform 1 (D0UU70_HUMAN)
- Mutant methyl CpG binding protein 2 transcript 1 (D3YJ43_HUMAN)
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for MECP2 Gene
Function for MECP2 Gene
Molecular function for MECP2 Gene
- GENATLAS Biochemistry:
- methyl CpG-binding protein 2,abundant chromosomal protein,murine Mecp2 homolog,that selectivity binds 5methyl cytosine residues in symmetrically positioned GpG dinucleotides,preferentially in the promoter regions of genes subject to transcriptional silencing after DNA methylation,interacting with histone deacetylase and the transcriptional corepressor SIN3A,involved in the regulation of gene expression
- UniProtKB/Swiss-Prot Function:
- Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A. Binds both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference for 5-methylcytosine (5mC).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001078 | transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding | IEA | -- |
| GO:0003677 | DNA binding | IEA,TAS | 9620804 |
| GO:0003682 | chromatin binding | IEA | -- |
| GO:0003700 | transcription factor activity, sequence-specific DNA binding | IEA | -- |
| GO:0003714 | transcription corepressor activity | TAS | 10773092 |
Phenotypes for MECP2 Gene
- MGI mutant phenotypes for MECP2:
-
inferred from 27 alleles
- mortality/aging
- cellular phenotype
- behavior/neurological phenotype
- normal phenotype
- growth/size/body region phenotype
- immune system phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- respiratory system phenotype
- reproductive system phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- skeleton phenotype
- embryo phenotype
- liver/biliary system phenotype
- craniofacial phenotype
- adipose tissue phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for MECP2:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance
- Upregulation of Wnt pathway
Animal Models for MECP2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for MECP2
-
-
ViGene Biosciences lentiviral particle packaged cDNA for MECP2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for MECP2 gene
- Search ViGene Biosciences for MECP2
CRISPR Products
-
OriGene CRISPR knockouts for MECP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for MECP2
- GenScript: Design CRISPR guide RNA sequences for MECP2
miRNA for MECP2 Gene
- miRTarBase miRNAs that target MECP2
-
- hsa-mir-802 (MIRT000441)
- hsa-mir-155-5p (MIRT000442)
- hsa-mir-199a-3p (MIRT000779)
- hsa-mir-195-5p (MIRT000795)
- hsa-mir-19a-3p (MIRT001795)
- hsa-mir-122-5p (MIRT003089)
- hsa-mir-212-3p (MIRT003897)
- hsa-mir-199a-5p (MIRT004395)
- hsa-mir-124-3p (MIRT007282)
- hsa-mir-148b-3p (MIRT019389)
- hsa-mir-425-3p (MIRT042431)
- hsa-mir-331-3p (MIRT043437)
- hsa-mir-92a-3p (MIRT049717)
- hsa-mir-340-5p (MIRT053526)
- hsa-mir-181c-5p (MIRT053528)
- hsa-mir-3156-3p (MIRT229434)
- hsa-mir-4301 (MIRT229436)
- hsa-mir-4279 (MIRT229444)
- hsa-mir-30a-3p (MIRT438684)
- hsa-mir-432-5p (MIRT438694)
- rno-mir-132-3p (MIRT438927)
- hsa-mir-20a-5p (MIRT440260)
- hsa-mir-106b-5p (MIRT440262)
- hsa-mir-5591-3p (MIRT506590)
- hsa-mir-5703 (MIRT506591)
- hsa-mir-4516 (MIRT506592)
- hsa-mir-4434 (MIRT506593)
- hsa-mir-1233-3p (MIRT506594)
- hsa-mir-1253 (MIRT506595)
- hsa-mir-3162-3p (MIRT506596)
- hsa-mir-5197-3p (MIRT506597)
- hsa-mir-6501-3p (MIRT506598)
- hsa-mir-660-5p (MIRT506599)
- hsa-mir-6891-5p (MIRT506600)
- hsa-mir-3173-3p (MIRT506601)
- hsa-mir-4428 (MIRT506602)
- hsa-mir-664a-5p (MIRT536011)
- hsa-mir-4794 (MIRT536012)
- hsa-mir-892b (MIRT536013)
- hsa-mir-548ao-3p (MIRT536014)
- hsa-mir-653-5p (MIRT556149)
- hsa-mir-527 (MIRT556150)
- hsa-mir-518a-5p (MIRT556151)
- hsa-mir-6864-5p (MIRT556152)
- hsa-mir-6126 (MIRT556153)
- hsa-mir-4312 (MIRT556154)
- hsa-mir-1252-5p (MIRT556155)
- hsa-mir-138-1-3p (MIRT556156)
- hsa-mir-519c-3p (MIRT556157)
- hsa-mir-519b-3p (MIRT556158)
- hsa-mir-519a-3p (MIRT556159)
- hsa-mir-17-5p (MIRT556160)
- hsa-mir-106a-5p (MIRT556161)
- hsa-mir-20b-5p (MIRT556162)
- hsa-mir-519d-3p (MIRT556163)
- hsa-mir-526b-3p (MIRT556164)
- hsa-mir-93-5p (MIRT556165)
- hsa-mir-19b-3p (MIRT556166)
- hsa-mir-4659b-3p (MIRT656351)
- hsa-mir-4659a-3p (MIRT656352)
- hsa-mir-6875-3p (MIRT656353)
- hsa-mir-6749-3p (MIRT656354)
- hsa-mir-4313 (MIRT656355)
- hsa-mir-942-5p (MIRT656356)
- hsa-mir-3121-5p (MIRT656357)
- hsa-mir-1250-3p (MIRT656358)
miRNA Products
- Search ViGene Biosciences for MECP2
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for MECP2
- Browse OriGene Inhibitory RNA Products For MECP2
-
ViGene Biosciences ready-to-package AAV shRNAs for MECP2 gene
Clone Products
- Sino Biological Human cDNA Clone for MECP2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for MECP2
- VectorBuilder custom plasmid, inducible vectors for MECP2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MECP2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for MECP2
-
ViGene Biosciences adenoviral particle packaged cDNA for MECP2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for MECP2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for MECP2 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MECP2 Gene
Localization for MECP2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for MECP2 Gene
- Nucleus. Note=Colocalized with methyl-CpG in the genome.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| mitochondrion | 3 |
| cytosol | 3 |
| cytoskeleton | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000792 | heterochromatin | IDA | 11441023 |
| GO:0000930 | colocalizes_with gamma-tubulin complex | IMP | 25527496 |
| GO:0005615 | extracellular space | IDA | 22664934 |
| GO:0005634 | nucleus | IDA,IEA | 11441023 |
| GO:0005737 | cytoplasm | IEA | -- |
Pathways & Interactions for MECP2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Chromatin Regulation / Acetylation | ||
| 2 | Neuroscience | ||
| 3 | Macrophage Differentiation and Growth Inhibition by METS | ||
| 4 | Cytosine methylation | ||
| 5 | Ectoderm Differentiation | ||
Pathways by source for MECP2 Gene
2 Cell Signaling Technology pathways for MECP2 Gene
5 BioSystems pathways for MECP2 Gene
1 Qiagen pathway for MECP2 Gene
Interacting Proteins for MECP2 Gene
Selected Interacting proteins:
ENSP00000395535
P51608-MECP2_HUMAN
for MECP2 Gene via
STRING
MINT
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription from RNA polymerase II promoter | TAS | 9620804 |
| GO:0001662 | behavioral fear response | IEA | -- |
| GO:0001666 | response to hypoxia | IEA | -- |
| GO:0001964 | startle response | IEA | -- |
| GO:0001976 | neurological system process involved in regulation of systemic arterial blood pressure | IEA | -- |
No data available for SIGNOR curated interactions for MECP2 Gene
Drugs & Compounds for MECP2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Dextromethorphan | Approved | Pharma | 133 | |||
| Guaifenesin | Approved, Vet_approved | Pharma | 641 | |||
| Phenylpropanolamine | Approved, Vet_approved, Withdrawn | Pharma | 641 | |||
| Antitussive Agents | Pharma | 542 | ||||
| Chlorpheniramine, phenylpropanolamine drug combination | Pharma | 641 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for MECP2 Gene
mRNA/cDNA for MECP2 Gene
- (7) REFSEQ mRNAs :
- (27) Additional mRNA sequences :
- (269) Selected AceView cDNA sequences:
- (26) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for MECP2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for MECP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for MECP2
- GenScript: Design CRISPR guide RNA sequences for MECP2
miRNA Products
- Search ViGene Biosciences for MECP2
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for MECP2
- Browse OriGene Inhibitory RNA Products For MECP2
-
ViGene Biosciences ready-to-package AAV shRNAs for MECP2 gene
Clone Products
- Sino Biological Human cDNA Clone for MECP2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for MECP2
- VectorBuilder custom plasmid, inducible vectors for MECP2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MECP2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||
| SP2: | - | - | - | ||||||||
| SP3: | |||||||||||
| SP4: |
Expression for MECP2 Gene
This gene is overexpressed in Peripheral blood mononuclear cells (14.1) and CD8 Tcells (10.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MECP2 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of MECP2 Gene:
MECP2SOURCE GeneReport for Unigene cluster for MECP2 Gene:
Hs.200716mRNA Expression by UniProt/SwissProt for MECP2 Gene:
P51608-MECP2_HUMAN
Tissue specificity:
Present in all adult somatic tissues tested.
Evidence on tissue expression from TISSUES for MECP2 Gene
- Blood(4.4)
- Intestine(4.4)
- Liver(4.4)
- Muscle(4.4)
- Nervous system(4.3)
- Lung(2.3)
- Skin(2.3)
- Heart(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for MECP2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Organs:
Head and neck:
- brain
- cerebellum
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- larynx
- lip
- mandible
- maxilla
- mouth
- neck
- nose
- outer ear
- pharynx
- salivary gland
- skull
- tongue
- tooth
- vocal cord
Thorax:
- chest wall
- clavicle
- diaphragm
- esophagus
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- abdominal wall
- intestine
- large intestine
- stomach
Pelvis:
- pelvis
- rectum
- testicle
- urinary bladder
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood vessel
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for MECP2
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MECP2 Gene
Orthologs for MECP2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MECP2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | MECP2 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | MECP2 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Mecp2 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Mecp2 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | MECP2 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | MECP2 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | MECP2 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | mecp2 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | MECP2 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | mecp2 34 35 |
|
||
| wufk96a04 34 |
|
||||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany |
- Species where no ortholog for MECP2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for MECP2 Gene
(1) SIMAP similar genes for MECP2 Gene using alignment to 17 proteins:
Variants for MECP2 Gene
| SNP ID | Clin | Chr 0X pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs267608454 | Uncertain significance, Rett syndrome (RTT) [MIM:312750] | 154,032,226(-) | GGAAG(G/T)ATGAT | reference, missense, utr-variant-5-prime | |
| rs28934904 | Pathogenic, Rett syndrome (RTT) [MIM:312750] | 154,031,431(-) | CCTTT(C/G/T)GCTCT | reference, missense, utr-variant-5-prime | |
| rs28934905 | Pathogenic, Rett syndrome (RTT) [MIM:312750] | 154,031,364(-) | TGATT(C/G/T)TGACT | intron-variant, reference, missense | |
| rs28934906 | Pathogenic, Rett syndrome (RTT) [MIM:312750] | 154,031,355(-) | CTTCA(C/T)GGTAA | intron-variant, reference, missense | |
| rs28934907 | Pathogenic, Rett syndrome (RTT) [MIM:312750] | 154,032,268(-) | GGACA(C/G/T)GGAAG | reference, missense, utr-variant-5-prime |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv33199 | CNV | gain+loss | 17666407 |
| esv33784 | CNV | gain+loss | 17666407 |
| esv3575026 | CNV | loss | 25503493 |
| nsv1076285 | CNV | deletion | 25765185 |
| nsv1144326 | CNV | deletion | 24896259 |
| nsv517994 | CNV | gain | 19592680 |
| nsv519042 | CNV | gain | 19592680 |
Residual Variation Intolerance Score:
32.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.94;
35.97% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for MECP2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MECP2 Gene
Disorders for MECP2 Gene
(47) MalaCards diseases for MECP2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mental retardation, x-linked, syndromic 13 |
|
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| rett syndrome |
|
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| encephalopathy, neonatal severe |
|
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| mental retardation, x-linked syndromic, lubs type |
|
|
| autism susceptibility, x-linked 3 |
|
|
Search MECP2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
MECP2_HUMAN- Angelman syndrome (AS) [MIM:105830]: A neurodevelopmental disorder characterized by severe motor and intellectual retardation, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, open-mouthed expression revealing the tongue. {ECO:0000269 PubMed:11283202}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
- Autism, X-linked 3 (AUTSX3) [MIM:300496]: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. {ECO:0000269 PubMed:12770674}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
- Encephalopathy, neonatal severe, due to MECP2 mutations (ENS-MECP2) [MIM:300673]: A neurodevelopmental disorder characterized by severe neonatal encephalopathy, developmental delay, mental retardation, microcephaly, seizures. Additional features include respiratory insufficiency and central hypoventilation, gastroesophageal reflux, axial hypotonia, hyperreflexia and dyskinetic movements. {ECO:0000269 PubMed:11238684}. Note=The disease is caused by mutations affecting the gene represented in this entry. The MECP2 gene is mutated in Rett syndrome, a severe neurodevelopmental disorder that almost always occurs in females. Although it was first thought that MECP2 mutations causing Rett syndrome were lethal in males, later reports identified a severe neonatal encephalopathy in surviving male sibs of patients with Rett syndrome. Additional reports have confirmed a severe phenotype in males with Rett syndrome-associated MECP2 mutations.
- Mental retardation, X-linked, syndromic, 13 (MRXS13) [MIM:300055]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXS13 patients manifest mental retardation associated with other variable features such as spasticity, episodes of manic depressive psychosis, increased tone and macroorchidism. {ECO:0000269 PubMed:10986043, ECO:0000269 PubMed:11007980, ECO:0000269 PubMed:11309367, ECO:0000269 PubMed:11805248, ECO:0000269 PubMed:11885030, ECO:0000269 PubMed:12161600, ECO:0000269 PubMed:12325019, ECO:0000269 PubMed:12615169, ECO:0000269 PubMed:16966553, ECO:0000269 PubMed:17296936}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Mental retardation, X-linked, syndromic, Lubs type (MRXSL) [MIM:300260]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSL patients manifest mental retardation associated with variable features. They include swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections, hypotonia, mild myopathy and characteristic facies such as downslanting palpebral fissures, hypertelorism and a short nose with a low nasal bridge. {ECO:0000269 PubMed:16080119}. Note=The disease is caused by mutations affecting the gene represented in this entry. Increased dosage of MECP2 due to gene duplication appears to be responsible for the mental retardation phenotype.
- Rett syndrome (RTT) [MIM:312750]: An X-linked dominant neurodevelopmental disorder, and one of the most common causes of mental retardation in females. Patients appear to develop normally until 6 to 18 months of age, then gradually lose speech and purposeful hand movements, and develop microcephaly, seizures, autism, ataxia, mental retardation and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood. {ECO:0000269 PubMed:10508514, ECO:0000269 PubMed:10577905, ECO:0000269 PubMed:10745042, ECO:0000269 PubMed:10767337, ECO:0000269 PubMed:10814719, ECO:0000269 PubMed:10944854, ECO:0000269 PubMed:10991688, ECO:0000269 PubMed:10991689, ECO:0000269 PubMed:11055898, ECO:0000269 PubMed:11241840, ECO:0000269 PubMed:11269512, ECO:0000269 PubMed:11283202, ECO:0000269 PubMed:11376998, ECO:0000269 PubMed:11402105, ECO:0000269 PubMed:11706982, ECO:0000269 PubMed:11738883, ECO:0000269 PubMed:12161600, ECO:0000269 PubMed:12567420, ECO:0000269 PubMed:12966522, ECO:0000269 PubMed:12966523, ECO:0000269 PubMed:15034579, ECO:0000269 PubMed:15057977, ECO:0000269 PubMed:17296936}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for MECP2
No data available for Genatlas for MECP2 Gene
Publications for MECP2 Gene
- Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. (PMID: 10508514) Amir R.E. … Zoghbi H.Y. (Nat. Genet. 1999) 2 3 4 22 64
- High frequency of nonrecurrent MECP2 duplications among Brazilian males with mental retardation. (PMID: 19806472) Campos M. … Pimentel M.M. (J. Mol. Neurosci. 2010) 3 22 46 64
- [Analysis of the parental origin of MECP2 mutations in patients with Rett syndrome]. (PMID: 20376788) Zhang J.J. … Wu X.R. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2010) 3 22 46 64
- Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. (PMID: 18985075) Lugtenberg D. … de Brouwer A.P. (Eur. J. Hum. Genet. 2009) 3 22 46 64
- Variants within MECP2, a key transcription regulator, are associated with increased susceptibility to lupus and differential gene expression in patients with systemic lupus erythematosus. (PMID: 19333917) Webb R. … Sawalha A.H. (Arthritis Rheum. 2009) 3 22 46 64
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