PCGF2 Chromosome 17
Polycomb group ring finger 2
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What This Gene Does
The protein encoded by this gene contains a RING finger motif and is similar to the polycomb group (PcG) gene products. PcG gene products form complexes via protein-protein interaction and maintain the transcription repression of genes involved in embryogenesis, cell cycles, and tumorigenesis. This protein was shown to act as a negative regulator of transcription and has tumor suppressor activity. The expression of this gene was detected in various tumor cells, but is limited in neural organs in normal tissues. Knockout studies in mice suggested that this protein may negatively regulate the expression of different cytokines, chemokines, and chemokine receptors, and thus plays an important role in lymphocyte differentiation and migration, as well as in immune responses. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Ring finger proteins|Polycomb group ring fingers"
Locus Type
gene with protein product
Location
17q12
Ensembl
ENSG00000277258
Associated Conditions (6)
Inborn genetic diseases
PCGF2-related disorder
Abnormality of the outer ear
Intellectual disability
Turnpenny-fry syndrome
Global developmental delay
Key Variants
RS140843241
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1412330889
Conflicting classifications of pathogenicity
Health Risk
RS145569563
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS369222947
Conflicting classifications of pathogenicity
PCGF2-related disorder, Inborn genetic diseases, PCGF2-related disorder
Health Risk
RS371103302
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS372019431
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS377546846
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS535420083
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS751245494
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS765047753
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS770193210
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS773410790
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140843241 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1412330889 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145569563 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS369222947 | Health Risk | Conflicting classifications of pathogenicity | PCGF2-related disorder, Inborn genetic diseases, PCGF2-related disorder |
| RS371103302 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372019431 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS377546846 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS535420083 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS751245494 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765047753 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS770193210 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases, Inborn genetic diseases |
| RS773410790 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS780384111 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS780536842 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1567941252 | Health Risk | Likely pathogenic | Abnormality of the outer ear, Intellectual disability, Turnpenny-fry syndrome |
| RS1567941256 | Health Risk | Likely pathogenic | Turnpenny-fry syndrome, Inborn genetic diseases, Turnpenny-fry syndrome |