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Gene name

Class

Subclass

Chromosome

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In atlas

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Reliability

Reliability

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Method

Validation

Method

Validation

Method

Validation

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Searches

Tissue

Cell type

Expression

Tissue

Specificity

Cell line

Specificity

Tissue

Detectable

Cell line

Detectable

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MECP2
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TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation


Dictionary


Tissue proteome

GENERAL INFORMATION

Gene name

MECP2

Gene description

Methyl CpG binding protein 2

Protein class

Cancer-related genes
Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

9
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

Evidence at protein level

Protein expression

Nuclear expression in all tissues.

DATA RELIABILITY

Data reliability
description

Antibody staining consistent with RNA expression data.

Reliability score

Supported based on 3 antibodies.
HPA000593 , HPA001341 , CAB037264
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM) Protein expression (score)
Brain
Cerebral cortex
Hippocampus
N/A
Caudate
N/A
Cerebellum
N/A
Endocrine tissues
Thyroid gland
Parathyroid gland
Adrenal gland
Bone marrow & immune system
Appendix
Bone marrow
Lymph node
Tonsil
Spleen
Muscle tissues
Heart muscle
Skeletal muscle
Smooth muscle
Lung
Nasopharynx
N/A
Bronchus
N/A
Lung
Liver & gallbladder
Liver
Gallbladder
Pancreas
Pancreas
Gastrointestinal tract
Oral mucosa
N/A
Salivary gland
Esophagus
Stomach
Duodenum
Small intestine
Colon
Rectum
Kidney & urinary bladder
Kidney
Urinary bladder
Male tissues
Testis
Epididymis
Prostate
Seminal vesicle
Female tissues
Breast
Vagina
N/A
Cervix, uterine
Endometrium
Fallopian tube
Ovary
Placenta
Adipose & soft tissue
Adipose tissue
Soft tissue
N/A
Skin
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW

Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW

HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

MECP2 (HGNC Symbol)

Synonyms

MRX16, MRX79, RTT

Description

Methyl CpG binding protein 2 (HGNC Symbol)

Entrez gene 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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]

Chromosome

X

Cytoband

q28

Chromosome location (bp)

154021573 - 154137103

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000169057 (version 83.38)

Entrez gene

4204

UniProt

P51608 (UniProt - Evidence at protein level)

neXtProt

NX_P51608

Antibodypedia

MECP2 antibodies

PROTEIN BROWSER

MECP2-001
MECP2-002
MECP2-005
MECP2-008
MECP2-017
MECP2-019
MECP2-201
MECP2-202
MECP2-203

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MECP2-001
ENSP00000301948
ENST00000303391
P51608 [Direct mapping]
Methyl-CpG-binding protein 2
D3YJ43 [Target identity:100%; Query identity:100%]
Methyl CpG binding protein 2; Methyl CpG binding protein 2 (Rett syndrome), isoform CRA_a; Mutant methyl CpG binding protein 2 transcript 1
Show all
Predicted intracellular proteins
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000792 [heterochromatin]
GO:0003677 [DNA binding]
GO:0003714 [transcription corepressor activity]
GO:0005515 [protein binding]
GO:0005615 [extracellular space]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005829 [cytosol]
GO:0006351 [transcription, DNA-templated]
GO:0007626 [locomotory behavior]
GO:0008327 [methyl-CpG binding]
GO:0009314 [response to radiation]
GO:0010385 [double-stranded methylated DNA binding]
GO:0019904 [protein domain specific binding]
GO:0042826 [histone deacetylase binding]
GO:0044822 [poly(A) RNA binding]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0047485 [protein N-terminus binding]
Show all
486 aa
52.4 kDa
No 0
MECP2-002
ENSP00000395535
ENST00000453960
P51608 [Direct mapping]
Methyl-CpG-binding protein 2
Show all
Predicted intracellular proteins
Cancer-related genes
   Candidate cancer biomarkers
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000400 [four-way junction DNA binding]
GO:0000790 [nuclear chromatin]
GO:0000792 [heterochromatin]
GO:0001662 [behavioral fear response]
GO:0001666 [response to hypoxia]
GO:0001964 [startle response]
GO:0001976 [neurological system process involved in regulation of systemic arterial blood pressure]
GO:0002087 [regulation of respiratory gaseous exchange by neurological system process]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0003714 [transcription corepressor activity]
GO:0003729 [mRNA binding]
GO:0005515 [protein binding]
GO:0005615 [extracellular space]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005829 [cytosol]
GO:0006020 [inositol metabolic process]
GO:0006122 [mitochondrial electron transport, ubiquinol to cytochrome c]
GO:0006342 [chromatin silencing]
GO:0006349 [regulation of gene expression by genetic imprinting]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006541 [glutamine metabolic process]
GO:0006576 [cellular biogenic amine metabolic process]
GO:0007268 [synaptic transmission]
GO:0007416 [synapse assembly]
GO:0007420 [brain development]
GO:0007507 [heart development]
GO:0007585 [respiratory gaseous exchange]
GO:0007612 [learning]
GO:0007613 [memory]
GO:0007616 [long-term memory]
GO:0007626 [locomotory behavior]
GO:0008104 [protein localization]
GO:0008134 [transcription factor binding]
GO:0008211 [glucocorticoid metabolic process]
GO:0008284 [positive regulation of cell proliferation]
GO:0008327 [methyl-CpG binding]
GO:0008344 [adult locomotory behavior]
GO:0008542 [visual learning]
GO:0009314 [response to radiation]
GO:0009405 [pathogenesis]
GO:0009791 [post-embryonic development]
GO:0010212 [response to ionizing radiation]
GO:0010288 [response to lead ion]
GO:0010385 [double-stranded methylated DNA binding]
GO:0010468 [regulation of gene expression]
GO:0014070 [response to organic cyclic compound]
GO:0016358 [dendrite development]
GO:0016571 [histone methylation]
GO:0016573 [histone acetylation]
GO:0019230 [proprioception]
GO:0019233 [sensory perception of pain]
GO:0019899 [enzyme binding]
GO:0019904 [protein domain specific binding]
GO:0021549 [cerebellum development]
GO:0021591 [ventricular system development]
GO:0030182 [neuron differentiation]
GO:0031061 [negative regulation of histone methylation]
GO:0031175 [neuron projection development]
GO:0031490 [chromatin DNA binding]
GO:0032048 [cardiolipin metabolic process]
GO:0032355 [response to estradiol]
GO:0033555 [multicellular organismal response to stress]
GO:0035067 [negative regulation of histone acetylation]
GO:0035176 [social behavior]
GO:0035197 [siRNA binding]
GO:0040029 [regulation of gene expression, epigenetic]
GO:0042551 [neuron maturation]
GO:0042826 [histone deacetylase binding]
GO:0043234 [protein complex]
GO:0043524 [negative regulation of neuron apoptotic process]
GO:0044030 [regulation of DNA methylation]
GO:0044822 [poly(A) RNA binding]
GO:0045322 [unmethylated CpG binding]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0046470 [phosphatidylcholine metabolic process]
GO:0047485 [protein N-terminus binding]
GO:0048167 [regulation of synaptic plasticity]
GO:0048712 [negative regulation of astrocyte differentiation]
GO:0050432 [catecholamine secretion]
GO:0050884 [neuromuscular process controlling posture]
GO:0050905 [neuromuscular process]
GO:0051965 [positive regulation of synapse assembly]
GO:0060079 [excitatory postsynaptic potential]
GO:0060291 [long-term synaptic potentiation]
Show all
498 aa
53.3 kDa
No 0
MECP2-005
ENSP00000486978
ENST00000628176
A0A0D9SFX7 [Direct mapping]
Methyl-CpG-binding protein 2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0005634 [nucleus]
GO:0005829 [cytosol]
GO:0007626 [locomotory behavior]
GO:0008327 [methyl-CpG binding]
GO:0009314 [response to radiation]
Show all
172 aa
19.1 kDa
No 0
MECP2-008
ENSP00000416267
ENST00000415944
C9JH89 [Direct mapping]
Methyl-CpG-binding protein 2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005829 [cytosol]
GO:0007626 [locomotory behavior]
GO:0008327 [methyl-CpG binding]
GO:0009314 [response to radiation]
Show all
50 aa
5.7 kDa
No 0
MECP2-017
ENSP00000486089
ENST00000630151
A0A0D9SEX1 [Direct mapping]
Methyl-CpG-binding protein 2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005829 [cytosol]
GO:0007626 [locomotory behavior]
GO:0008327 [methyl-CpG binding]
GO:0009314 [response to radiation]
Show all
41 aa
4.7 kDa
No 0
MECP2-019
ENSP00000384865
ENST00000407218
B5MCB4 [Direct mapping]
Methyl-CpG-binding protein 2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0005634 [nucleus]
GO:0005829 [cytosol]
GO:0007626 [locomotory behavior]
GO:0008327 [methyl-CpG binding]
GO:0009314 [response to radiation]
Show all
184 aa
20 kDa
No 0
MECP2-201
ENSP00000479736
ENST00000611468
A0A087WVW7 [Direct mapping]
Methyl-CpG-binding protein 2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0005634 [nucleus]
GO:0005829 [cytosol]
GO:0007626 [locomotory behavior]
GO:0008327 [methyl-CpG binding]
GO:0009314 [response to radiation]
Show all
168 aa
18.7 kDa
No 0
MECP2-202
ENSP00000480973
ENST00000619732
A0A087WXF0 [Direct mapping]
Methyl-CpG-binding protein 2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0003677 [DNA binding]
GO:0005634 [nucleus]
GO:0005829 [cytosol]
GO:0007626 [locomotory behavior]
GO:0008327 [methyl-CpG binding]
GO:0009314 [response to radiation]
GO:0010385 [double-stranded methylated DNA binding]
GO:0042826 [histone deacetylase binding]
GO:0045892 [negative regulation of transcription, DNA-templated]
Show all
509 aa
54.8 kDa
No 0
MECP2-203
ENSP00000484470
ENST00000622433
A0A087X1U4 [Direct mapping]
Methyl-CpG-binding protein 2
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0005634 [nucleus]
GO:0005829 [cytosol]
GO:0007626 [locomotory behavior]
GO:0008327 [methyl-CpG binding]
GO:0009314 [response to radiation]
Show all
324 aa
34.9 kDa
No 0

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