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

Gene: TCF19

Alternate names for this Gene: SC1|TCF-19

Gene Summary: This gene encodes a protein that contains a PHD-type zinc finger domain and likely functions as a transcription factor. The encoded protein plays a role proliferation and apoptosis of pancreatic beta cells. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: transcription factor 19

Type of Gene: protein-coding

rs3130933 in POU5F1;TCF19 gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

rs3130933 in POU5F1;TCF19 gene and Multiple Sclerosis PMID 20598377 2010 Evidence for VAV2 and ZNF433 as susceptibility genes for multiple sclerosis.