PCGF2 Chromosome 17

Polycomb group ring finger 2
16 variants 16 Health Risk

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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
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
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