Gene:
POU2F1
POU class 2 homeobox 1

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.

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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.

List of all variant annotations for POU2F1

Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available POU2F1 low activity phenotype
POU2F1 low activity phenotype N/A N/A N/A
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Alternate Names:  OTF1
Alternate Symbols:  OCT1
PharmGKB Accession Id: PA33536

Details

Cytogenetic Location: chr1 : q24.2 - q24.2
GP mRNA Boundary: chr1 : 167190066 - 167396582
GP Gene Boundary: chr1 : 167180066 - 167399582
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 VA No VIP available No VIP available
metformin

Curated Information ?

Evidence Disease
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Lactose Intolerance

Publications related to POU2F1: 2

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Steady-state pharmacokinetics of metformin is independent of the OCT1 genotype in healthy volunteers. European journal of clinical pharmacology. 2015. Christensen Mette Marie Hougaard, 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
T-13910 DNA variant associated with lactase persistence interacts with Oct-1 and stimulates lactase promoter activity in vitro. Human molecular genetics. 2005. Lewinsky Rikke H, et al. PubMed

LinkOuts

NCBI Gene:
5451
OMIM:
164175
UCSC Genome Browser:
NM_002697
RefSeq RNA:
NM_001198783
NM_001198786
NM_002697
NR_037163
RefSeq Protein:
NP_001185712
NP_001185715
NP_002688
RefSeq DNA:
NT_004487
UniProtKB:
PO2F1_HUMAN (P14859)
Ensembl:
ENSG00000143190
GenAtlas:
POU2F1
GeneCard:
POU2F1
MutDB:
POU2F1
ALFRED:
LO023261O
HuGE:
POU2F1
Comparative Toxicogenomics Database:
5451
ModBase:
P14859
HumanCyc Gene:
HS07006
HGNC:
9212

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