Gene:
MECP2
methyl CpG binding protein 2 (Rett syndrome)

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB contains no drug labels with pharmacogenomic information for this . To report a drug label with PGx, click here.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

Variant?
(138)
Alternate Names / Tag SNPs ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs1734787 153325446A>C, 27-27438T>G, 4243384A>C, 42684T>G, 63-27438T>G
A > C
Intronic
No VIP available No Clinical Annotations available VA
rs1734791 153330920A>T, 26+26722T>A, 37210T>A, 4248858A>T, 62+32141T>A
A > T
Intronic
No VIP available No Clinical Annotations available VA
rs17435 153311980T>A, 27-13972A>T, 4229918T>A, 56150A>T, 63-13972A>T
T > A
Intronic
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 138

Overview

Alternate Names:  None
Alternate Symbols:  None
PharmGKB Accession Id: PA30729

Details

Cytogenetic Location: chrX : q28 - q28
GP mRNA Boundary: chrX : 153287264 - 153363188
GP Gene Boundary: chrX : 153284264 - 153373188
Strand: minus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

PharmGKB contains no curated pathways for this gene. If you would like to volunteer to work on a pathway, please let us know.

External Pathways

Links to non-PharmGKB pathways.

  1. mechanisms of transcriptional repression by dna methylation - (BioCarta via Pathway Interaction Database)
No related genes are available

Curated Information ?

Curated Information ?

Evidence Disease
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Carcinoma, Hepatocellular

Publications related to MECP2: 3

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
GALNT14 SNP as a potential predictor of response to combination chemotherapy using 5-FU, mitoxantrone and cisplatin in advanced HCC. Pharmacogenomics. 2011. Liang Kung-Hao, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MeCP2, a key contributor to neurological disease, activates and represses transcription. Science (New York, N.Y.). 2008. Chahrour Maria, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Reversal of neurological defects in a mouse model of Rett syndrome. Science (New York, N.Y.). 2007. Guy Jacky, et al. PubMed

LinkOuts

UniProtKB:
MECP2_HUMAN (P51608)
Q59FJ6_HUMAN (Q59FJ6)
Ensembl:
ENSG00000169057
GenAtlas:
MECP2
GeneCard:
MECP2
MutDB:
MECP2
ALFRED:
LO037848E
HuGE:
MECP2
Comparative Toxicogenomics Database:
4204
ModBase:
P51608
HumanCyc Gene:
HS09874
HGNC:
6990

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