Details for: MECP2

Gene ID: 4204

Symbol: MECP2

Ensembl ID: ENSG00000169057

Description: methyl-CpG binding protein 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 334.9187
    Cell Significance Index: -52.1000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 209.5856
    Cell Significance Index: -53.1600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 128.6106
    Cell Significance Index: -60.7200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 120.5394
    Cell Significance Index: -48.9700
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 107.0404
    Cell Significance Index: -55.0600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 51.3489
    Cell Significance Index: -49.0300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 44.8962
    Cell Significance Index: -55.3600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 19.9637
    Cell Significance Index: -53.4800
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 17.1710
    Cell Significance Index: -52.7400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 14.2902
    Cell Significance Index: -56.3900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 11.8592
    Cell Significance Index: -25.9600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.9067
    Cell Significance Index: 222.2100
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 1.7398
    Cell Significance Index: 13.4100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.5445
    Cell Significance Index: 309.8200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.1767
    Cell Significance Index: 422.0800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.1745
    Cell Significance Index: 30.1900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.1192
    Cell Significance Index: 15.2700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.1095
    Cell Significance Index: 85.1500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.0909
    Cell Significance Index: 216.5000
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 1.0351
    Cell Significance Index: 32.7400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.9332
    Cell Significance Index: 168.2200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.8293
    Cell Significance Index: 90.2000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.8163
    Cell Significance Index: 100.3800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.7933
    Cell Significance Index: 22.7400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.7709
    Cell Significance Index: 43.2600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7209
    Cell Significance Index: 117.2400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.6198
    Cell Significance Index: 428.7100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.6150
    Cell Significance Index: 38.7600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.5322
    Cell Significance Index: 34.3400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.5161
    Cell Significance Index: 70.8700
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.4681
    Cell Significance Index: 5.5800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.4497
    Cell Significance Index: 23.6100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.3905
    Cell Significance Index: 10.6300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.3739
    Cell Significance Index: 16.5400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3522
    Cell Significance Index: 192.3200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.3334
    Cell Significance Index: 20.4900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.3195
    Cell Significance Index: 8.9300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2674
    Cell Significance Index: 118.2100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.2612
    Cell Significance Index: 5.7200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2442
    Cell Significance Index: 5.2900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2424
    Cell Significance Index: 6.9900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2166
    Cell Significance Index: 9.8200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.2049
    Cell Significance Index: 7.7600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2018
    Cell Significance Index: 25.8700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1596
    Cell Significance Index: 300.5000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.1554
    Cell Significance Index: 70.5100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1444
    Cell Significance Index: 9.7100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.1307
    Cell Significance Index: 2.5500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1280
    Cell Significance Index: 197.0700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1120
    Cell Significance Index: 1.9200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1024
    Cell Significance Index: 188.8100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0814
    Cell Significance Index: 51.6800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0522
    Cell Significance Index: 3.8900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0332
    Cell Significance Index: 45.1100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0324
    Cell Significance Index: 1.1400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0017
    Cell Significance Index: 0.0800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0113
    Cell Significance Index: -8.3900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0123
    Cell Significance Index: -1.4500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0213
    Cell Significance Index: -15.5900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0224
    Cell Significance Index: -3.8300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0377
    Cell Significance Index: -23.5700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0494
    Cell Significance Index: -37.3800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0564
    Cell Significance Index: -2.6300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0605
    Cell Significance Index: -34.1100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: -0.0827
    Cell Significance Index: -15.7400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1002
    Cell Significance Index: -11.4800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.1110
    Cell Significance Index: -7.6800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: -0.1183
    Cell Significance Index: -11.7000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1240
    Cell Significance Index: -12.6700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1288
    Cell Significance Index: -6.6900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1376
    Cell Significance Index: -17.7800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1397
    Cell Significance Index: -29.4300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1438
    Cell Significance Index: -20.9000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.2008
    Cell Significance Index: -57.7900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.2828
    Cell Significance Index: -7.5500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2953
    Cell Significance Index: -4.3600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3542
    Cell Significance Index: -36.8800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.3986
    Cell Significance Index: -28.1900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.4089
    Cell Significance Index: -46.6800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.4482
    Cell Significance Index: -10.7500
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.5315
    Cell Significance Index: -7.6500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5932
    Cell Significance Index: -46.9800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.6743
    Cell Significance Index: -14.3600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.6990
    Cell Significance Index: -36.4100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.7072
    Cell Significance Index: -20.1800
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.7217
    Cell Significance Index: -17.6100
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.7434
    Cell Significance Index: -9.2200
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.7791
    Cell Significance Index: -22.8800
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.8443
    Cell Significance Index: -7.7800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.8524
    Cell Significance Index: -18.2200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.8642
    Cell Significance Index: -22.7300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.8751
    Cell Significance Index: -30.4100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.9431
    Cell Significance Index: -57.8200
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -1.0024
    Cell Significance Index: -14.2700
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -1.0278
    Cell Significance Index: -14.7600
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -1.1091
    Cell Significance Index: -20.5000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -1.1231
    Cell Significance Index: -35.7700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -1.1360
    Cell Significance Index: -36.3900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -1.1468
    Cell Significance Index: -37.5500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -1.1864
    Cell Significance Index: -25.1800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** MECP2 is a 3,000-amino acid protein that belongs to the methyl-CpG binding domain (MBD) family of proteins. It is a transcriptional repressor that binds to methylated DNA sequences, specifically the CpG dinucleotides, and recruits histone deacetylases to repress gene transcription. MECP2 is highly expressed in the brain, particularly in neurons, and its expression is restricted to specific brain regions, including the cerebral cortex, hippocampus, and cerebellum. MECP2 has a unique ability to bind to both methylated and unmethylated DNA sequences, allowing it to regulate gene expression in a dynamic and context-dependent manner. **Pathways and Functions** MECP2 plays a critical role in regulating various cellular processes, including: 1. **Neuronal development and maturation**: MECP2 regulates the expression of genes involved in neuronal development, differentiation, and maturation. 2. **Gene expression**: MECP2 acts as a transcriptional repressor, controlling the expression of numerous genes involved in neuronal function and behavior. 3. **Synaptic plasticity**: MECP2 regulates the expression of genes involved in synaptic transmission and plasticity, including those involved in long-term memory and learning. 4. **Behavioral regulation**: MECP2 is involved in regulating behavioral responses, including fear, anxiety, and social behavior. 5. **Neuroprotection**: MECP2 has been shown to have neuroprotective effects, regulating the expression of genes involved in neuronal survival and protection. **Clinical Significance** MECP2 mutations have been associated with various neurological and psychiatric disorders, including: 1. **Rett syndrome**: A neurodevelopmental disorder characterized by intellectual disability, seizures, and motor dysfunction. 2. **Autism spectrum disorder**: MECP2 mutations have been implicated in the pathogenesis of autism spectrum disorder, a neurodevelopmental disorder characterized by social and communication deficits. 3. **Schizophrenia**: MECP2 has been implicated in the regulation of gene expression in schizophrenia, a complex psychiatric disorder characterized by cognitive, emotional, and behavioral deficits. 4. **Neurodegenerative disorders**: MECP2 has been implicated in the regulation of gene expression in neurodegenerative disorders, including Alzheimer's disease, Parkinson's disease, and Huntington's disease. In conclusion, MECP2 is a critical regulator of gene expression in the brain, and its dysregulation has been implicated in various neurological and psychiatric disorders. Further research is needed to fully understand the mechanisms by which MECP2 regulates gene expression and to develop effective therapeutic strategies for the treatment of MECP2-related disorders.

Genular Protein ID: 3573441602

Symbol: MECP2_HUMAN

Name: Methyl-CpG-binding protein 2

UniProtKB Accession Codes:

P51608 O15233 Q6QHH9 Q7Z384

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 EMBL 11 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 100 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 13 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 7 OrthoDB 1 PANTHER 2 PDB 9 PDBsum 9 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 11 RefSeq 3 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9710633

Title: Methyl-CpG-binding protein MeCP2 represses Sp1-activated transcription of the human leukosialin gene when the promoter is methylated.

PubMed ID: 9710633

DOI: 10.1128/mcb.18.9.5492

PubMed ID: 8976388

Title: Assignment of the gene for methyl-CpG-binding protein 2 (MECP2) to human chromosome band Xq28 by in situ hybridization.

PubMed ID: 8976388

DOI: 10.1159/000134438

PubMed ID: 10369871

Title: A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3'-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression.

PubMed ID: 10369871

DOI: 10.1093/hmg/8.7.1253

PubMed ID: 10723722

Title: Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions.

PubMed ID: 10723722

DOI: 10.1007/s003350010035

PubMed ID: 15034579

Title: A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.

PubMed ID: 15034579

DOI: 10.1038/ng1327

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8672133

Title: Isolation, physical mapping, and Northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2.

PubMed ID: 8672133

DOI: 10.1007/s003359900157

PubMed ID: 15034150

Title: The major form of MeCP2 has a novel N-terminus generated by alternative splicing.

PubMed ID: 15034150

DOI: 10.1093/nar/gkh349

PubMed ID: 12872250

Title: Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.

PubMed ID: 12872250

DOI: 10.1002/humu.10243

PubMed ID: 15917271

Title: CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.

PubMed ID: 15917271

DOI: 10.1093/hmg/ddi198

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 19367720

Title: Phosphorylation analysis of primary human T lymphocytes using sequential IMAC and titanium oxide enrichment.

PubMed ID: 19367720

DOI: 10.1021/pr800500r

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 10518942

Title: The solution structure of the domain from MeCP2 that binds to methylated DNA.

PubMed ID: 10518942

DOI: 10.1006/jmbi.1999.3023

PubMed ID: 10577905

Title: Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.

PubMed ID: 10577905

DOI: 10.1086/302690

PubMed ID: 10508514

Title: Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

PubMed ID: 10508514

DOI: 10.1038/13810

PubMed ID: 10986043

Title: A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males.

PubMed ID: 10986043

DOI: 10.1086/303078

PubMed ID: 11055898

Title: Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.

PubMed ID: 11055898

DOI: 10.1086/316913

PubMed ID: 11007980

Title: MECP2 mutation in male patients with non-specific X-linked mental retardation.

PubMed ID: 11007980

DOI: 10.1016/s0014-5793(00)01994-3

PubMed ID: 10767337

Title: Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

PubMed ID: 10767337

DOI: 10.1093/hmg/9.7.1119

PubMed ID: 10814719

Title: MECP2 mutations account for most cases of typical forms of Rett syndrome.

PubMed ID: 10814719

DOI: 10.1093/hmg/9.9.1377

PubMed ID: 10944854

Title: Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.

PubMed ID: 10944854

DOI: 10.1007/s100380070032

PubMed ID: 10745042

Title: Mutation screening in Rett syndrome patients.

PubMed ID: 10745042

DOI: 10.1136/jmg.37.4.250

PubMed ID: 10991688

Title: Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome.

PubMed ID: 10991688

DOI: 10.1136/jmg.37.8.608

PubMed ID: 10991689

Title: Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.

PubMed ID: 10991689

DOI: 10.1136/jmg.37.8.610

PubMed ID: 11706982

Title: Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation.

PubMed ID: 11706982

DOI: 10.1002/ana.1272

PubMed ID: 11376998

Title: Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome.

PubMed ID: 11376998

DOI: 10.1016/s0387-7604(01)00197-8

PubMed ID: 11738883

Title: Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation.

PubMed ID: 11738883

DOI: 10.1016/s0387-7604(01)00342-4

PubMed ID: 11309367

Title: MECP2 is highly mutated in X-linked mental retardation.

PubMed ID: 11309367

DOI: 10.1093/hmg/10.9.941

PubMed ID: 11241840

Title: Mutation spectrum in patients with Rett syndrome in the German population: evidence of hot spot regions.

PubMed ID: 11241840

DOI: 10.1002/humu.3

PubMed ID: 11283202

Title: Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.

PubMed ID: 11283202

DOI: 10.1136/jmg.38.4.224

PubMed ID: 11238684

Title: MECP2 mutation in non-fatal, non-progressive encephalopathy in a male.

PubMed ID: 11238684

DOI: 10.1136/jmg.38.3.171

PubMed ID: 11269512

Title: Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.

PubMed ID: 11269512

DOI: 10.1007/s001090000155

PubMed ID: 11402105

Title: MeCP2 mutations in children with and without the phenotype of Rett syndrome.

PubMed ID: 11402105

DOI: 10.1212/wnl.56.11.1486

PubMed ID: 11885030

Title: A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome.

PubMed ID: 11885030

DOI: 10.1086/339553

PubMed ID: 11896461

Title: Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling.

PubMed ID: 11896461

DOI: 10.1038/sj.ejhg.5200761

PubMed ID: 12111644

Title: Low frequency of MECP2 mutations in mentally retarded males.

PubMed ID: 12111644

DOI: 10.1038/sj.ejhg.5200836

PubMed ID: 12384770

Title: Mutation analysis of the coding sequence of the MECP2 gene in infantile autism.

PubMed ID: 12384770

DOI: 10.1007/s00439-002-0786-3

PubMed ID: 12325019

Title: Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?

PubMed ID: 12325019

DOI: 10.1002/humu.10130

PubMed ID: 12161600

Title: MECP2 gene nucleotide changes and their pathogenicity in males: proceed with caution.

PubMed ID: 12161600

DOI: 10.1136/jmg.39.8.586

PubMed ID: 11805248

Title: A Rett syndrome MECP2 mutation that causes mental retardation in men.

PubMed ID: 11805248

DOI: 10.1212/wnl.58.2.226

PubMed ID: 12567420

Title: Mutation analysis of the MECP2 gene in patients with Rett syndrome.

PubMed ID: 12567420

DOI: 10.1002/ajmg.a.10898

PubMed ID: 12966522

Title: Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.

PubMed ID: 12966522

DOI: 10.1002/ajmg.a.20320

PubMed ID: 12966523

Title: Rett syndrome in adolescent and adult females: clinical and molecular genetic findings.

PubMed ID: 12966523

DOI: 10.1002/ajmg.a.20321

PubMed ID: 12615169

Title: Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).

PubMed ID: 12615169

DOI: 10.1016/s1090-3798(02)00134-4

PubMed ID: 12770674

Title: Identification of MeCP2 mutations in a series of females with autistic disorder.

PubMed ID: 12770674

DOI: 10.1016/s0887-8994(02)00624-0

PubMed ID: 15057977

Title: Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.

PubMed ID: 15057977

DOI: 10.1002/ajmg.a.20571

PubMed ID: 16080119

Title: Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.

PubMed ID: 16080119

DOI: 10.1086/444549

PubMed ID: 16966553

Title: A novel familial MECP2 mutation in a young boy: clinical and molecular findings.

PubMed ID: 16966553

DOI: 10.1212/01.wnl.0000233990.87889.15

PubMed ID: 17296936

Title: Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.

PubMed ID: 17296936

DOI: 10.1073/pnas.0608056104

PubMed ID: 23662938

Title: Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

PubMed ID: 23662938

DOI: 10.1111/epi.12203

PubMed ID: 25818041

Title: Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

PubMed ID: 25818041

DOI: 10.1111/epi.12954

PubMed ID: 26993267

Title: Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PubMed ID: 26993267

DOI: 10.1136/jmedgenet-2015-103263

PubMed ID: 28709814

Title: The therapeutic implication of a novel SCN2A mutation associated early-onset epileptic encephalopathy with Rett-like features.

PubMed ID: 28709814

DOI: 10.1016/j.braindev.2017.06.003

PubMed ID: 27864847

Title: Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.

PubMed ID: 27864847

DOI: 10.1002/humu.23149

PubMed ID: 28348241

Title: Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders.

PubMed ID: 28348241

DOI: 10.1073/pnas.1700731114

Sequence Information:

  • Length: 486
  • Mass: 52441
  • Checksum: EB6A33233AEDA566
  • Sequence:
    • MVAGMLGLRE EKSEDQDLQG LKDKPLKFKK VKKDKKEEKE GKHEPVQPSA HHSAEPAEAG 
KAETSEGSGS APAVPEASAS PKQRRSIIRD RGPMYDDPTL PEGWTRKLKQ RKSGRSAGKY 
DVYLINPQGK AFRSKVELIA YFEKVGDTSL DPNDFDFTVT GRGSPSRREQ KPPKKPKSPK 
APGTGRGRGR PKGSGTTRPK AATSEGVQVK RVLEKSPGKL LVKMPFQTSP GGKAEGGGAT 
TSTQVMVIKR PGRKRKAEAD PQAIPKKRGR KPGSVVAAAA AEAKKKAVKE SSIRSVQETV 
LPIKKRKTRE TVSIEVKEVV KPLLVSTLGE KSGKGLKTCK SPGRKSKESS PKGRSSSASS 
PPKKEHHHHH HHSESPKAPV PLLPPLPPPP PEPESSEDPT SPPEPQDLSS SVCKEEKMPR 
GGSLESDGCP KEPAKTQPAV ATAATAAEKY KHRGEGERKD IVSSSMPRPN REEPVDSRTP 
VTERVS

Genular Protein ID: 2525611920

Symbol: Q59FJ6_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q59FJ6

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PeptideAtlas 1 PharmGKB 1 RefSeq 3 SAM 1

Sequence Information:

  • Length: 130
  • Mass: 13539
  • Checksum: BE63D01AECCA43F6
  • Sequence:
    • PASAARALPP LGERAVVKAV RKMAAAAAAA PSGGGGGGEE ERLEEKSEDQ DLSSSVCKEE 
KMPRGGSLES DGCPKEPAKT QPAVATAATA AEKYKHRGEG ERKDIVSSSM PRPNREEPVD 
SRTPVTERVS

Genular Protein ID: 1944407068

Symbol: A0A140VKC4_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A140VKC4

Database IDs:

ARBA 1 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 ExpressionAtlas 1 GO 88 InterPro 4 NCBI Taxonomy 1 OMA 1 OrthoDB 1 PANTHER 2 PIRNR 1 PIRSF 1 PROSITE 2 Pfam 1 RefSeq 1 SAM 1 SMART 1 SMR 1 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

Sequence Information:

  • Length: 498
  • Mass: 53323
  • Checksum: 443ECB3D5EA4DAB8
  • Sequence:
    • MAAAAAAAPS GGGGGGEEER LEEKSEDQDL QGLKDKPLKF KKVKKDKKEE KEGKHEPVQP 
SAHHSAEPAE AGKAETSEGS GSAPAVPEAS ASPKQRRSII RDRGPMYDDP TLPEGWTRKL 
KQRKSGRSAG KYDVYLINPQ GKAFRSKVEL IAYFEKVGDT SLDPNDFDFT VTGRGSPSRR 
EQKPPKKPKS PKAPGTGRGR GRPKGSGTTR PKAATSEGVQ VKRVLEKSPG KLLVKMPFQT 
SPGGKAEGGG ATTSTQVMVI KRPGRKRKAE ADPQAIPKKR GRKPGSVVAA AAAEAKKKAV 
KESSIRSVQE TVLPIKKRKT RETVSIEVKE VVKPLLVSTL GEKSGKGLKT CKSPGRKSKE 
SSPKGRSSSA SSPPKKEHHH HHHHSESPKA PVPLLPPLPP PPPEPESSED PTSPPEPQDL 
SSSVCKEEKM PRGGSLESDG CPKEPAKTQP AVATAATAAE KYKHRGEGER KDIVSSSMPR 
PNREEPVDSR TPVTERVS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.