PCGF2 Gene (Protein Coding)

Polycomb Group Ring Finger 2

GC17M038733
GIFtS:
41
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 ... See more...

Aliases for PCGF2 Gene

Aliases for PCGF2 Gene

  • Polycomb Group Ring Finger 2 2 3 5
  • Polycomb Group RING Finger Protein 2 3 4
  • DNA-Binding Protein Mel-18 3 4
  • Ring Finger Protein 110 2 3
  • Zinc Finger Protein 144 3 4
  • MEL-18 2 3
  • RNF110 3 4
  • ZNF144 3 4
  • RING Finger Protein 110 4
  • PCGF2 5
  • MEL18 4
  • TPFS 3

External Ids for PCGF2 Gene

Previous HGNC Symbols for PCGF2 Gene

  • ZNF144
  • RNF110

Previous GeneCards Identifiers for PCGF2 Gene

  • GC17M034144
  • GC17M036890
  • GC17M032686

Summaries for PCGF2 Gene

Entrez Gene Summary for PCGF2 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]

GeneCards Summary for PCGF2 Gene

PCGF2 (Polycomb Group Ring Finger 2) is a Protein Coding gene. Diseases associated with PCGF2 include Turnpenny-Fry Syndrome and Auditory System Disease. Among its related pathways are Signaling pathways regulating pluripotency of stem cells 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 BMI1.

UniProtKB/Swiss-Prot Summary for PCGF2 Gene

  • 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).

Gene Wiki entry for PCGF2 Gene

Additional gene information for PCGF2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PCGF2 Gene

Genomics for PCGF2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PCGF2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PCGF2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PCGF2

Top Transcription factor binding sites by QIAGEN in the PCGF2 gene promoter:
  • AREB6
  • HOXA9
  • HOXA9B
  • Ik-3
  • LCR-F1
  • Meis-1
  • Meis-1b
  • MyoD
  • p300
  • YY1

Genomic Locations for PCGF2 Gene

Latest Assembly
chr17:38,733,898-38,749,817
(GRCh38/hg38)
Size:
15,920 bases
Orientation:
Minus strand

Previous Assembly
chr17:36,890,151-36,904,589
(GRCh37/hg19 by Entrez Gene)
Size:
14,439 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr17(ALT_REF_LOCI_1):2,769,217-2,783,655 (-)

Genomic View for PCGF2 Gene

Genes around PCGF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCGF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCGF2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PCGF2 Gene

Proteins for PCGF2 Gene

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  1. Antibodies for research
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  3. Assay products for research

  • Protein details for PCGF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35227-PCGF2_HUMAN
    Recommended name:
    Polycomb group RING finger protein 2
    Protein Accession:
    P35227
    Secondary Accessions:
    • A6NGD8

    Protein attributes for PCGF2 Gene

    Size:
    344 amino acids
    Molecular mass:
    37788 Da
    Quaternary structure:
    • Exists as both a monomer and homodimer (By similarity). Component of a PRC1-like complex (PubMed:19636380, PubMed:21282530, PubMed:26151332). Interacts with CBX8, RING1 AND RNF2 (PubMed:19636380). Interacts with CBX7 (By similarity). Interacts with PHC2 (By similarity).

neXtProt entry for PCGF2 Gene

Protein Expression for PCGF2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PCGF2 Gene

  • Phosphorylated. Homodimer formation is regulated by phosphorylation with only unphosphorylated proteins forming homodimers.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PCGF2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PCGF2 Gene

Domains & Families for PCGF2 Gene

Gene Families for PCGF2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PCGF2 Gene

InterPro:
Blocks:
  • Zn-finger, RING

Suggested Antigen Peptide Sequences for PCGF2 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger protein 144 (PCGF2_HUMAN)
genes like me logo Genes that share domains with PCGF2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PCGF2 Gene

Function for PCGF2 Gene

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  6. Cell Lines for research

Molecular function for PCGF2 Gene

UniProtKB/Swiss-Prot Function:
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).

Phenotypes From GWAS Catalog for PCGF2 Gene

Gene Ontology (GO) - Molecular Function for PCGF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0005515 protein binding IPI 19636380
GO:0046872 metal ion binding IEA --
GO:1990841 promoter-specific chromatin binding IBA 21873635
genes like me logo Genes that share ontologies with PCGF2: view
genes like me logo Genes that share phenotypes with PCGF2: view

Human Phenotype Ontology for PCGF2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PCGF2 Gene

MGI Knock Outs for PCGF2:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCGF2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PCGF2 Gene

Localization for PCGF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCGF2 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCGF2 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PCGF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA 19636380
GO:0001739 sex chromatin IEA --
GO:0005634 nucleus IEA,IDA 21282530
GO:0005654 nucleoplasm TAS --
GO:0016604 nuclear body IEA --
genes like me logo Genes that share ontologies with PCGF2: view

Pathways & Interactions for PCGF2 Gene

genes like me logo Genes that share pathways with PCGF2: view

SIGNOR curated interactions for PCGF2 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for PCGF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II 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 --
genes like me logo Genes that share ontologies with PCGF2: view

Drugs & Compounds for PCGF2 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for PCGF2 Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
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mRNA/cDNA for PCGF2 Gene

3 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCGF2

Alternative Splicing Database (ASD) splice patterns (SP) for PCGF2 Gene

No ASD Table

Relevant External Links for PCGF2 Gene

GeneLoc Exon Structure for
PCGF2

Expression for PCGF2 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PCGF2 Gene

mRNA expression in normal human tissues for PCGF2 Gene
mRNA expression by GTEx for PCGF2 GenemRNA expression by BioGPS for PCGF2 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PCGF2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PCGF2

SOURCE GeneReport for Unigene cluster for PCGF2 Gene:

Hs.371617

mRNA Expression by UniProt/SwissProt for PCGF2 Gene:

P35227-PCGF2_HUMAN
Tissue specificity: Detected in all tissues examined with high expression found in placenta lung and kidney and low expression, in liver, pancreas and skeletal muscle.

Evidence on tissue expression from TISSUES for PCGF2 Gene

  • Intestine(4.4)
  • Nervous system(2.8)
  • Kidney(2.8)
  • Blood(2)
genes like me logo Genes that share expression patterns with PCGF2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCGF2 Gene

Orthologs for PCGF2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCGF2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PCGF2 29
  • 99.61 (n)
Dog
(Canis familiaris)
 Mammalia PCGF2 29
  • 92.15 (n)
Cow
(Bos Taurus)
 Mammalia PCGF2 29
  • 92.15 (n)
Rat
(Rattus norvegicus)
 Mammalia Pcgf2 29
  • 88.79 (n)
Mouse
(Mus musculus)
 Mammalia Pcgf2 29 16
  • 88.5 (n)
Chicken
(Gallus gallus)
 Aves PCGF2 29
  • 76.86 (n)
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia pcgf2 29
  • 69.41 (n)
Species where no ortholog for PCGF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for PCGF2 Gene

ENSEMBL:
Gene Tree for PCGF2 (if available)
TreeFam:
Gene Tree for PCGF2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PCGF2: view image
Alliance of Genome Resources:
Additional Orthologs for PCGF2

Paralogs for PCGF2 Gene

Paralogs for PCGF2 Gene

(8) SIMAP similar genes for PCGF2 Gene using alignment to 4 proteins:

  • PCGF2_HUMAN
  • J3KSL0_HUMAN
  • J3KT13_HUMAN
  • J3QS42_HUMAN
genes like me logo Genes that share paralogs with PCGF2: view

Variants for PCGF2 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PCGF2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs1567941252 Likely Pathogenic: Abnormality of the outer ear; Intellectual disability; Global developmental delay; Turnpenny-fry syndrome 38,739,601(-) G/A
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu) 		MISSENSE
rs1567941256 Likely Pathogenic: Turnpenny-fry syndrome 38,739,602(-) G/A
NM_007144.3(PCGF2):c.193C>T (p.Pro65Ser) 		MISSENSE
VAR_082085 Turnpenny-Fry syndrome (TPFS) [MIM:618371] p.Pro65Leu
VAR_082086 Turnpenny-Fry syndrome (TPFS) [MIM:618371] p.Pro65Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PCGF2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PCGF2 Gene

Variant ID Type Subtype PubMed ID
nsv1146669 OTHER inversion 26484159
nsv470585 CNV loss 18288195
nsv833438 CNV loss 17160897
nsv833439 CNV loss 17160897

Variation tolerance for PCGF2 Gene

Residual Variation Intolerance Score: 29.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.88; 18.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCGF2 Gene

Human Gene Mutation Database (HGMD)
PCGF2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCGF2
Leiden Open Variation Database (LOVD)
PCGF2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCGF2 Gene

Disorders for PCGF2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for PCGF2 Gene - From: OMI, CVR, GTR, SWI, COP, and GCD

Disorder Aliases PubMed IDs
turnpenny-fry syndrome
  • tpfs
auditory system disease
  • ear and mastoid disease
external ear disease
  • preauricular cyst
disease of mental health
  • mental health
lymphoma, hodgkin, classic
  • chl
- elite association - COSMIC cancer census association via MalaCards
Search PCGF2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PCGF2_HUMAN
  • Turnpenny-Fry syndrome (TPFS) [MIM:618371]: 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. {ECO:0000269 PubMed:30343942}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for PCGF2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PCGF2: view

No data available for Genatlas for PCGF2 Gene

Publications for PCGF2 Gene

  1. Cloning and chromosome mapping of the human Mel-18 gene which encodes a DNA-binding protein with a new 'RING-finger' motif. (PMID: 8325509) Ishida A … Kanno M (Gene 1993) 2 3 4 22
  2. Several distinct polycomb complexes regulate and co-localize on the INK4a tumor suppressor locus. (PMID: 19636380) Maertens GN … Peters G (PloS one 2009) 3 4 22
  3. The novel tumor-suppressor Mel-18 in prostate cancer: its functional polymorphism, expression and clinical significance. (PMID: 19585577) Wang W … Habuchi T (International journal of cancer 2009) 3 22 40
  4. Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. (PMID: 30343942) Turnpenny PD … Fry AE (American journal of human genetics 2018) 4 72
  5. BMI1-RING1B is an autoinhibited RING E3 ubiquitin ligase. (PMID: 26151332) Taherbhoy AM … Cochran AG (Nature communications 2015) 3 4

ExternalLinks

View latest publications for PCGF2 gene in Mastermind

Products for PCGF2 Gene

  • Addgene plasmids for PCGF2
  • Biorbyt antibodies for PCGF2

Sources for PCGF2 Gene