PCGF2
Polycomb group RING finger protein 2
Also known as: MEL-18, PCGF2_HUMAN, RNF110, ZNF144
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P35227
- Gene
- PCGF2
- Ensembl
- ENSG00000277258
- Chromosome
- 17
- Canonical length
- 344 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
- Quaternary structure
- Homodimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
344 residues, UniProt reviewed canonical sequence.
>P35227|PCGF2
1 MHRTTRIKIT ELNPHLMCAL CGGYFIDATT IVECLHSFCK TCIVRYLETN KYCPMCDVQV
61 HKTRPLLSIR SDKTLQDIVY KLVPGLFKDE MKRRRDFYAA YPLTEVPNGS NEDRGEVLEQ
121 EKGALSDDEI VSLSIEFYEG ARDRDEKKGP LENGDGDKEK TGVRFLRCPA AMTVMHLAKF
181 LRNKMDVPSK YKVEVLYEDE PLKEYYTLMD IAYIYPWRRN GPLPLKYRVQ PACKRLTLAT
241 VPTPSEGTNT SGASECESVS DKAPSPATLP ATSSSLPSPA TPSHGSPSSH GPPATHPTSP
301 TPPSTASGAT TAANGGSLNC LQTPSSTSRG RKMTVNGAPV PPLTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PCGF2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.5
- Highest tissue expression
- 49 nTPM
Expression across tissuesHPA
Tissue
- pituitary gland: 49 nTPM
- kidney: 49 nTPM
- cervix: 37 nTPM
- ovary: 36 nTPM
- blood vessel: 36 nTPM
- thyroid gland: 36 nTPM
Single-cell type
- proximal tubule cells: 23 nCPM
- ependymal cells: 21 nCPM
- oligodendrocyte progenitor cells: 19 nCPM
- renal collecting duct principal cells: 18 nCPM
- papillary tip epithelial cells: 17 nCPM
- loop of henle epithelial cells: 17 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 22 nTPM
- hypothalamus: 17 nTPM
- cerebral cortex: 16 nTPM
- choroid plexus: 15 nTPM
- thalamus: 14 nTPM
- amygdala: 12 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PCGF2.
Disease | AllUniProt
Conditions PCGF2 is implicated in, by any mechanism.
- Turnpenny-Fry syndrome (TPFS) MIM:618371
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 330 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Intellectual disability
- Turnpenny-fry syndrome
- Inborn genetic diseases
- Abnormality of the outer ear
- Global developmental delay
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.41
- gnomAD pLI
- 0.86
- gnomAD missense Z
- 0.95
- DepMap mean gene effect
- -0.1
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- anterior/posterior pattern specification
- apoptotic signaling pathway
- cellular response to hydrogen peroxide
- chromatin remodeling
- embryonic skeletal system morphogenesis
- in utero embryonic development
- negative regulation of apoptotic signaling pathway
- negative regulation of transcription by RNA polymerase II
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PCGF2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PCGF2 as an antibody target. Whether an autoantibody or antibody against PCGF2 could matter depends on whether native PCGF2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PCGF2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PCGF2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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