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Tchem Methyl-CpG-binding protein 2

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).

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 cognitive disability in females. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]

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Property Summary

Ligand Count 1
NCBI Gene PubMed Count 497
PubMed Score 1878.16
PubTator Score 1277.20

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Epilepsy 792
Bruxism 18
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding) 1
Abnormality of chromosome segregation 3
Abnormality of metabolism/homeostasis 134
Abnormality of the antitragus 5
Abnormality of the fingernails 51
Abnormality of the metacarpal bones 17
Absent speech 43
Acquired scoliosis 281
Anxiety 136
Anxiety disease 113
Apnea 45
Apraxias 27
Ataxia, Truncal 21
Atony of facial musculature 3
Autism Spectrum Disorders 75
Autistic behavior 20
Axial hypotonia 46
Babinski Reflex 100
Big calvaria 147
Bilateral fifth finger clinodactyly 110
Blepharophimosis 70
Blepharoptosis 231
Brachycephaly 88
Broad cranium shape 88
Byzanthine arch palate 194
Cachexia 50
Central hypoventilation 8
Cerebellar Ataxia 304
Cerebellar hypoplasia and atrophy 41
Cerebral atrophy 178
Chorea 29
Choreatic disease 52
Choreoathetoid movements 32
Choreoathetosis 32
Cognitive delay 608
Concave bridge of nose 195
Congenital Epicanthus 177
Congenital deafness 185
Congenital pes cavus 88
Constipation 181
Cryptorchidism 296
Curvature of little finger 110
Curvature of spine 282
Deafness 198
Decreased projection of midface 105
Deglutition Disorders 132
Delayed bone age 136
Delayed speech and language development 112
Dementia 175
Dental abnormalities 60
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Depressive disorder 409
Developmental regression 95
Dilated ventricles (finding) 121
Drooling 27
Dull intelligence 645
Dyschezia 135
Dysphasia 23
Dystonia 164
Dystonic disease 106
EKG: T-wave abnormalities 1
Electroencephalogram abnormal 101
Encephalopathies 43
Everted lower lip vermilion 54
Facial hypotonia 3
Failure to gain weight 365
Feeding difficulties in infancy 175
Fine hair 42
Flexion contracture of proximal interphalangeal joint 75
Gait Ataxia 51
Gait abnormality 135
Gait apraxia 3
Gait, Shuffling 8
Gastroesophageal reflux disease 110
Global developmental delay 608
Global developmental delay, severe 47
Hearing Loss, Partial 185
Heartburn 78
Hernia of abdominal wall 1
Hyperkyphosis 111
Hyperreflexia 209
Hypoplastic feet 66
Hypoplastic mandible condyle 275
Hypotrophic malar bone 129
Hypotrophic midface 105
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Infantile muscular hypotonia 12
Intermittent hyperventilation 2
Inverted V-shaped upper lip 19
Kyphosis deformity of spine 114
Language Delay 112
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Liver carcinoma 240
Long philtrum 137
Loss of developmental milestones 95
Low intelligence 645
Low set ears 181
Macroorchidism 7
Macrostomia 72
Macrotia 87
Malar flattening 129
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental deterioration in childhood 95
Micrognathism 275
Microstomia 78
Midface retrusion 105
Mild Mental Retardation 70
Motor deterioration 5
Movement Disorders 55
Muscle Rigidity 49
Muscle Spasticity 195
Nephrolithiasis 56
Neurodevelopmental regression 95
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Parkinsonian Disorders 56
Pectus excavatum 100
Pediatric failure to thrive 365
Penile hypospadias 106
Polymicrogyria 48
Poor eye contact 12
Poor school performance 645
Postnatal microcephaly 24
Prenatal onset 139
Profound Mental Retardation 31
Profound intellectual disabilities 31
Progressive disorder 142
Progressive mental retardation 37
Progressive microcephaly 32
Progressive spasticity 6
Prolonged QTc interval 2
Protruding lower lip 54
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Psychotic Disorders 151
Recurrent respiratory infections 141
Respiratory function loss 121
Rett Syndrome, Atypical 4
Severe mental retardation (I.Q. 20-34) 99
Severe psychomotor retardation 47
Short neck 140
Short stature 531
Sialorrhea 28
Skeletal muscle atrophy 139
Slow progression 89
Small head 374
Small midface 105
Spastic gait 23
Speech Delay 112
Speech Disorders 58
Speech impairment 112
Stereotyped Behavior 37
Stereotypic Movement Disorder 42
Tented mouth 19
Tented upper lip 19
Thick vermilion border 25
Thin hypoplastic alae nasi 51
Tooth Abnormalities 69
Tremor 113
Wide nose 35
Wide skull shape 88
X- linked recessive 110
X-linked dominant 57
hearing impairment 199
muscle degeneration 139
nonverbal 43
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7

Expression

  Differential Expression (7)

Disease log2 FC p
adult high grade glioma -1.100 3.6e-05
astrocytoma 1.100 1.4e-02
malignant mesothelioma 1.100 6.4e-06
medulloblastoma, large-cell -1.100 1.5e-03
non primary Sjogren syndrome sicca 1.100 2.3e-02
osteosarcoma 1.136 2.1e-02
subependymal giant cell astrocytoma -2.026 4.7e-03

Synonym

Accession P51608 O15233 Q6QHH9 Q7Z384 MeCp-2 protein
Symbols RS
RTS
RTT
PPMX
MRX16
MRX79
MRXSL
AUTSX3
MRXS13

Gene

MECP2

PANTHER Protein Class (2)

  Ortholog (10)

Species Source Disease
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG

 UniProt Keyword (19)

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 GO Function (12)

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 GO Component (6)

 GO Process (51)

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 Compartment GO Term (34)

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 OMIM Phenotype (7)

 MGI Phenotype (20)

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 GWAS Trait (2)

 HCA RNA Cell Line (56)

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Pathway (5)

Protein-protein Interaction (92)

RPLP2   RPL26L1   RBM28   RPL7A   MKI67   URB2   DDX21   ZNF483   RPL3   TAF1A   RPL10A   PDCD11   TFB1M   NAT10   FXR2   RPL5   NKAPD1   DDX56   TOP3A   CEBPZ   RPL29   HIST1H1T   METAP2   DDX31   CHMP1A   MYBBP1A   HIST2H2BF   NOP16   RPL18   NEPRO   DDX24   URB1   RRP8   TWNK   HIRA   NVL   NOL8   TEX10   BAZ1A   GTPBP4   ESF1   RPL8   ZCCHC17   NOC2L   ITGB3BP   GNL2   KPNA4   KPNA3   RPL27   DDX54   RIOX2   EIF2AK2   RPL12   RPS8   RRP1B   BRIX1   NOP2   RRP7A   RPL17   WDR36   NOL6   RPL15   RPL32   NSD1   RPL36   BBX   SRBD1   FCF1   RPL13   ZNF800   RPF2   TAF1D   GTPBP10   RPP40   DDX51   CENPV   BLM   TAF1C   SDAD1   TRIP12   C18orf21   NLE1   LENG8   TAF1B   DGCR8   ZNF593   SPOUT1   TRMT1L   PWP2   RBAK   SRSF8   ZNF354A  

PDB (3)

Ligand (1)

Structure of CHEMBL520851

CHEMBL520851
pIC50 6.22

Gene RIF (461)

AA Sequence 

MVAGMLGLREEKSEDQDLQGLKDKPLKFKKVKKDKKEEKEGKHEPVQPSAHHSAEPAEAGKAETSEGSGS      1 - 70
APAVPEASASPKQRRSIIRDRGPMYDDPTLPEGWTRKLKQRKSGRSAGKYDVYLINPQGKAFRSKVELIA     71 - 140
YFEKVGDTSLDPNDFDFTVTGRGSPSRREQKPPKKPKSPKAPGTGRGRGRPKGSGTTRPKAATSEGVQVK    141 - 210
RVLEKSPGKLLVKMPFQTSPGGKAEGGGATTSTQVMVIKRPGRKRKAEADPQAIPKKRGRKPGSVVAAAA    211 - 280
AEAKKKAVKESSIRSVQETVLPIKKRKTRETVSIEVKEVVKPLLVSTLGEKSGKGLKTCKSPGRKSKESS    281 - 350
PKGRSSSASSPPKKEHHHHHHHSESPKAPVPLLPPLPPPPPEPESSEDPTSPPEPQDLSSSVCKEEKMPR    351 - 420
GGSLESDGCPKEPAKTQPAVATAATAAEKYKHRGEGERKDIVSSSMPRPNREEPVDSRTPVTERVS        421 - 486
//

Text Mined References (513)

PMID Year Title