Gene: POU5F1

Alternate names for this Gene: OCT3|OCT4|OTF-3|OTF3|OTF4|Oct-3|Oct-4

Gene Summary: This gene encodes a transcription factor containing a POU homeodomain that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is associated with tumorigenesis. This gene can participate in a translocation with the Ewing's sarcoma gene on chromosome 21, which also leads to tumor formation. Alternative splicing, as well as usage of alternative AUG and non-AUG translation initiation codons, results in multiple isoforms. One of the AUG start codons is polymorphic in human populations. Related pseudogenes have been identified on chromosomes 1, 3, 8, 10, and 12.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: POU class 5 homeobox 1

Type of Gene: protein-coding

rs879882 in POU5F1 gene and Body Height PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs3130501 in POU5F1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 28869590 2017 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.

PMID 24509480 2014 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.

rs1062630 in POU5F1 gene and Epstein-Barr Virus Infections PMID 28654678 2017 Genetic factors affecting EBV copy number in lymphoblastoid cell lines derived from the 1000 Genome Project samples.

rs879882 in POU5F1 gene and Height PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs185402687 in POU5F1 gene and Lymphocyte Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1265159 in POU5F1 gene and Membranous glomerulonephritis PMID 21323541 2011 Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.

rs3132523 in POU5F1 gene and Multiple Myeloma PMID 23955597 2013 Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.

rs3130501 in POU5F1 gene and Multiple Sclerosis PMID 17660530 2007 Risk alleles for multiple sclerosis identified by a genomewide study.

rs1265159 in POU5F1 gene and Myasthenia Gravis PMID 23055271 2012 Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08.

rs3130501 in POU5F1 gene and Stevens-Johnson Syndrome PMID 21801394 2011 Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.

rs3130501 in POU5F1 gene and Toxic Epidermal Necrolysis PMID 21801394 2011 Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.

rs1265159 in POU5F1 gene and Vitiligo PMID 20526339 2010 Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.