PIBF1 progesterone immunomodulatory binding factor 1
Gene ID: 10464, updated on 3-Apr-2024Gene type: protein coding
Also known as: PIBF; CEP90; JBTS33; C13orf24
- See all available tests in GTR for this gene
- Go to complete Gene record for PIBF1
- Go to Variation Viewer for PIBF1 variants
Summary
This gene encodes a protein that is induced by the steroid hormone progesterone and plays a role in the maintenance of pregnancy. The encoded protein regulates multiple facets of the immune system to promote normal pregnancy including cytokine synthesis, natural killer (NK) cell activity, and arachidonic acid metabolism. Low serum levels of this protein have been associated with spontaneous pre-term labor in humans. This protein may promote the proliferation, migration and invasion of glioma. [provided by RefSeq, Mar 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. GeneReviews: Not available | |
| Joubert syndrome 33 | See labs |
Genomic context
- Location:
- 13q21.33-q22.1
- Sequence:
- Chromosome: 13; NC_000013.11 (72782133..73016461)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PIBF1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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