Details for Gene POU2F1

GENE NAME POU2F1
CHROMOSOME 1
ENSEMBL ID ENSG00000143190
ENTREZ ID 5451
UNIPROT ACCESSION NUMBER P14859
GO MOLECULAR FUNCTION protein binding; sequence-specific DNA binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-449147; R-HSA-8939211; R-HSA-9018519; R-HSA-74160; R-HSA-6785807; R-HSA-74158; R-HSA-162582; R-HSA-168256; R-HSA-749476; R-HSA-1280215; R-HSA-73857; hsa05168; R-HSA-76046; R-HSA-6807505; R-HSA-76071; R-HSA-9006931
2 combinations linked to POU2F1 OLI328; OLI333
2 variants linked to POU2F1 POU2F1:c.826A>G, p.Thr276Ala; POU2F1:c.829C>T, p.Arg277Cys
1 disease linked to POU2F1 Amyotrophic lateral sclerosis

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