POU2F1 POU class 2 homeobox 1
Gene ID: 5451, updated on 2-Nov-2024Gene type: protein coding
Also known as: OCT1; OTF1; Oct1Z; oct-1B
- See all available tests in GTR for this gene
- Go to complete Gene record for POU2F1
- Go to Variation Viewer for POU2F1 variants
Summary
The OCT1 transcription factor was among the first identified members of the POU transcription factor family (summarized by Sturm et al., 1993 [PubMed 8314572]). Members of this family contain the POU domain, a 160-amino acid region necessary for DNA binding to the octameric sequence ATGCAAAT.[supplied by OMIM, Jul 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. GeneReviews: Not available |
Genomic context
- Location:
- 1q24.2
- Sequence:
- Chromosome: 1; NC_000001.11 (167220885..167427345)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for POU2F1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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