Gene:
SMAD4
SMAD family member 4

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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?

Overview

Alternate Names:  None
Alternate Symbols:  DPC4
PharmGKB Accession Id: PA30527

Details

Cytogenetic Location: chr18 : q21.1 - q21.2
GP mRNA Boundary: chr18 : 48556583 - 48611412
GP Gene Boundary: chr18 : 48546583 - 48614412
Strand: plus
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.

Publications related to SMAD4: 4

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenomics of acute lymphoid leukemia: new insights into treatment toxicity and efficacy. Hematology / the Education Program of the American Society of Hematology. American Society of Hematology. Education Program. 2013. Relling Mary V, 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
Core signaling pathways in human pancreatic cancers revealed by global genomic analyses. Science (New York, N.Y.). 2008. Jones Sin, 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
Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. American journal of human genetics. 2007. Milet Jacqueline, 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
The consensus coding sequences of human breast and colorectal cancers. Science (New York, N.Y.). 2006. Sjöblom Tobias, et al. PubMed

LinkOuts

Entrez Gene:
4089
OMIM:
174900
175050
600993
UCSC Genome Browser:
NM_005359
RefSeq RNA:
NM_005359
RefSeq Protein:
NP_005350
RefSeq DNA:
AC_000061
AC_000150
NC_000018
NG_013013
NT_010966
NW_001838468
NW_927106
UniProtKB:
SMAD4_HUMAN (Q13485)
Ensembl:
ENSG00000141646
GenAtlas:
SMAD4
GeneCard:
SMAD4
MutDB:
SMAD4
ALFRED:
LO074063U
HuGE:
SMAD4
Comparative Toxicogenomics Database:
4089
ModBase:
Q13485
HumanCyc Gene:
HS06859
HGNC:
6770

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