PCGF2 gene

polycomb group ring finger 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Transcriptional repressor. Binds specifically to the DNA sequence 5'-GACTNGACT-3'. Has tumor suppressor activity. May play a role in control of cell proliferation and/or neural cell development. Regulates proliferation of early T progenitor cells by maintaining expression of HES1. Also plays a role in antero-posterior specification of the axial skeleton and negative regulation of the self-renewal activity of hematopoietic stem cells (By similarity). Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:26151332). Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity (PubMed:26151332).

From NCBI Gene:

  • TURNPENNY-FRY SYNDROME

From UniProt:

Turnpenny-Fry syndrome (TPFS): A syndrome characterized by facial dysmorphism, intellectual disability, feeding problems, impaired growth, and a range of brain, cardiovascular, and skeletal abnormalities. Craniofacial features include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic ears. [MIM:618371]

Cytogenetic Location: 17q12, which is the long (q) arm of chromosome 17 at position 12

Molecular Location: base pairs 38,733,898 to 38,749,817 on chromosome 17 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 17q12, which is the long (q) arm of chromosome 17 at position 12
  • MEL-18
  • RNF110
  • TPFS
  • ZNF144