PIBF1 Chromosome 13
Progesterone immunomodulatory binding factor 1
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What This Gene Does
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 (6)
Joubert syndrome 33
Inborn genetic diseases
Joubert syndrome
PIBF1-related disorder
Cephalocele
Dandy-Walker syndrome
Key Variants
RS11544631
Conflicting classifications of pathogenicity
Joubert syndrome 33, Joubert syndrome 33
Health Risk
RS143644781
Conflicting classifications of pathogenicity
Joubert syndrome 33, Joubert syndrome 33
Health Risk
RS146814641
Conflicting classifications of pathogenicity
Inborn genetic diseases, Joubert syndrome 33, Inborn genetic diseases
Health Risk
RS147863910
Conflicting classifications of pathogenicity
Joubert syndrome 33, Inborn genetic diseases, Joubert syndrome 33
Health Risk
RS17089782
Conflicting classifications of pathogenicity
Joubert syndrome, Joubert syndrome 33, Joubert syndrome
Health Risk
RS376306777
Conflicting classifications of pathogenicity
Inborn genetic diseases, Joubert syndrome 33, PIBF1-related disorder
Health Risk
RS774671946
Conflicting classifications of pathogenicity
Joubert syndrome 33, PIBF1-related disorder, Joubert syndrome 33
Health Risk
RS144610914
Likely pathogenic
Cephalocele, Joubert syndrome 33, Dandy-Walker syndrome
Health Risk
RS2041684401
Likely pathogenic
Joubert syndrome 33, Joubert syndrome 33
Health Risk
RS2137980593
Likely pathogenic
Joubert syndrome 33, Joubert syndrome 33
Health Risk
RS2138204996
Likely pathogenic
Joubert syndrome 33, Joubert syndrome 33
Health Risk
RS2501798819
Likely pathogenic
PIBF1-related disorder, PIBF1-related disorder
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11544631 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 33, Joubert syndrome 33 |
| RS143644781 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 33, Joubert syndrome 33 |
| RS146814641 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Joubert syndrome 33, Inborn genetic diseases |
| RS147863910 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 33, Inborn genetic diseases, Joubert syndrome 33 |
| RS17089782 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Joubert syndrome 33, Joubert syndrome |
| RS376306777 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Joubert syndrome 33, PIBF1-related disorder |
| RS774671946 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 33, PIBF1-related disorder, Joubert syndrome 33 |
| RS144610914 | Health Risk | Likely pathogenic | Cephalocele, Joubert syndrome 33, Dandy-Walker syndrome |
| RS2041684401 | Health Risk | Likely pathogenic | Joubert syndrome 33, Joubert syndrome 33 |
| RS2137980593 | Health Risk | Likely pathogenic | Joubert syndrome 33, Joubert syndrome 33 |
| RS2138204996 | Health Risk | Likely pathogenic | Joubert syndrome 33, Joubert syndrome 33 |
| RS2501798819 | Health Risk | Likely pathogenic | PIBF1-related disorder, PIBF1-related disorder |
| RS2501854454 | Health Risk | Likely pathogenic | Joubert syndrome 33, PIBF1-related disorder, Joubert syndrome 33 |
| RS751280996 | Health Risk | Likely pathogenic | Joubert syndrome 33, Joubert syndrome 33 |
| RS863225214 | Health Risk | Likely pathogenic | Joubert syndrome, Joubert syndrome |
| RS1594219498 | Health Risk | Pathogenic | Joubert syndrome 33, Joubert syndrome 33 |
| RS2037306370 | Health Risk | Pathogenic | Joubert syndrome 33, Joubert syndrome 33 |
| RS539010725 | Health Risk | Pathogenic | Joubert syndrome 33, Joubert syndrome 33 |
| RS756656568 | Health Risk | Pathogenic | — |
| RS770532605 | Health Risk | Pathogenic | — |
| RS987735817 | Health Risk | Pathogenic | Joubert syndrome 33, PIBF1-related disorder, Joubert syndrome 33 |
| RS911707459 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 33, Cephalocele, Dandy-Walker syndrome |