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 has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.
PharmGKB contains no Clinical Variants that meet the highest level of criteria.
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.
|Alternate Names:||WS2; WS2A; homolog of mouse microphthalmia|
|Alternate Symbols: ||MI; bHLHe32|
|PharmGKB Accession Id:||PA30823|
|Cytogenetic Location:||chr3 : p14.2 - p14.1|
|GP mRNA Boundary†:||chr3 : 69788586 - 70017488|
|GP Gene Boundary†:||chr3 : 69778586 - 70020488|
UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.View on UCSC Browser
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.
Links to non-PharmGKB pathways.
- IL6-mediated signaling events - (Pathway Interaction Database NCI-Nature Curated)
- melanocyte development and pigmentation pathway - (BioCarta via Pathway Interaction Database)
- Regulation of retinoblastoma protein - (Pathway Interaction Database NCI-Nature Curated)
- Signaling events mediated by Stem cell factor receptor (c-Kit) - (Pathway Interaction Database NCI-Nature Curated)
- Signaling mediated by p38-alpha and p38-beta - (Pathway Interaction Database NCI-Nature Curated)
Publications related to MITF: 2
The following icons indicate that data of a certain type is available:
- DG Dosing Guideline information is available
- DL Drug Label information is available
- CA High-level Clinical Annotation is available
- VA Variant Annotation is available
- VIP VIP information is available
- PW Pathway is available
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||Targeted cancer therapies in the twenty-first century: lessons from imatinib. Clinical pharmacology and therapeutics. 2010. Stegmeier F, et al.|
||Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. American journal of human genetics. 2007. Bondurand Nadege, et al.|
- NCBI Gene:
- UCSC Genome Browser:
- RefSeq RNA:
- RefSeq Protein:
- RefSeq DNA: