Gene:
MITF
microphthalmia-associated transcription factor

PharmGKB contains no prescribing info for this . Contact us to report known genotype-based dosing guidelines, or if you are interested in developing guidelines.

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.

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Overview

Alternate Names:  WS2; WS2A; homolog of mouse microphthalmia
Alternate Symbols:  MI; bHLHe32
PharmGKB Accession Id: PA30823

Details

Cytogenetic Location: chr3 : p14.2 - p14.1
GP mRNA Boundary: chr3 : 69788586 - 70017488
GP Gene Boundary: chr3 : 69778586 - 70020488
Strand: plus

Visualization

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
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.
No related genes are available

Curated Information ?

Curated Information ?

Publications related to MITF: 2

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Targeted cancer therapies in the twenty-first century: lessons from imatinib. Clinical pharmacology and therapeutics. 2010. Stegmeier F, 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
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. American journal of human genetics. 2007. Bondurand Nadege, et al. PubMed

LinkOuts

UniProtKB:
MITF_HUMAN (O75030)
Ensembl:
ENSG00000187098
GenAtlas:
MITF
GeneCard:
MITF
MutDB:
MITF
ALFRED:
LO006094T
HuGE:
MITF
Comparative Toxicogenomics Database:
4286
ModBase:
O75030
HumanCyc Gene:
HS08844
HGNC:
7105

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