Gene:
SMN2
survival of motor neuron 2, centromeric

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.

? = Mouse-over for quick help

Overview

Alternate Names:  tudor domain containing 16B
Alternate Symbols:  BCD541; GEMIN1; SMNC; TDRD16B
PharmGKB Accession Id: PA35967

Details

Cytogenetic Location: chr5 : q13.2 - q13.2
GP mRNA Boundary: chr5 : 69345350 - 69373422
GP Gene Boundary: chr5 : 69335350 - 69376422
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 ?

Evidence Drug
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
valproic acid

Curated Information ?

Publications related to SMN2: 3

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science (New York, N.Y.). 2008. Oprea Gabriela E, 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
In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate. Annals of neurology. 2006. Brichta Lars, 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
Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. American journal of human genetics. 2006. Cartegni Luca, et al. PubMed

LinkOuts

NCBI Gene:
6607
OMIM:
253400
601627
UCSC Genome Browser:
NM_017411
RefSeq RNA:
NM_017411
NM_022875
NM_022876
NM_022877
RefSeq Protein:
NP_059107
NP_075013
NP_075014
NP_075015
RefSeq DNA:
NG_008728
NT_006713
UniProtKB:
SMN_HUMAN (Q16637)
Ensembl:
ENSG00000172062
ENSG00000205571
GenAtlas:
SMN2
GeneCard:
SMN2
MutDB:
SMN2
HuGE:
SMN2
Comparative Toxicogenomics Database:
6607
HumanCyc Gene:
HS11334
HGNC:
11118

Common Searches