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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]
PCGF2 (Polycomb Group Ring Finger 2) is a Protein Coding gene. Diseases associated with PCGF2 include Turnpenny-Fry Syndrome and Lymphoma, Hodgkin, Classic. Among its related pathways are Metabolism of proteins and SUMOylation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and ubiquitin-protein transferase activity. An important paralog of this gene is COMMD3-BMI1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IEA | -- |
GO:0003682 | chromatin binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | TAS | 8325509 |
GO:0005515 | protein binding | IPI | 19636380 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | IDA | 19636380 |
GO:0001739 | sex chromatin | IEA | -- |
GO:0005634 | nucleus | IEA,IDA | 21282530 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0016604 | nuclear body | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IBA,IMP | 19636380 |
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0006342 | chromatin silencing | IBA | 21873635 |
GO:0009952 | anterior/posterior pattern specification | IEA | -- |
GO:0016573 | histone acetylation | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
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Chimpanzee (Pan troglodytes) |
Mammalia | PCGF2 30 |
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Dog (Canis familiaris) |
Mammalia | PCGF2 30 |
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Cow (Bos Taurus) |
Mammalia | PCGF2 30 |
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Rat (Rattus norvegicus) |
Mammalia | Pcgf2 30 |
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Mouse (Mus musculus) |
Mammalia | Pcgf2 30 17 |
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Chicken (Gallus gallus) |
Aves | PCGF2 30 |
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Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pcgf2 30 |
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SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1567941252 | Likely Pathogenic: Abnormality of the outer ear; Intellectual disability; TURNPENNY-FRY SYNDROME | 38,739,601(-) | G/A | MISSENSE_VARIANT | |
rs1567941256 | Likely Pathogenic: TURNPENNY-FRY SYNDROME | 38,739,602(-) | G/A | MISSENSE_VARIANT | |
VAR_082085 | Turnpenny-Fry syndrome (TPFS) [MIM:618371] | p.Pro65Leu | |||
VAR_082086 | Turnpenny-Fry syndrome (TPFS) [MIM:618371] | p.Pro65Ser |
Disorder | Aliases | PubMed IDs |
---|---|---|
turnpenny-fry syndrome |
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lymphoma, hodgkin, classic |
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medulloblastoma |
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acute promyelocytic leukemia |
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