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    PCGF2 polycomb group ring finger 2 [ Homo sapiens (human) ]

    Gene ID: 7703, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PCGF2provided by HGNC
    Official Full Name
    polycomb group ring finger 2provided by HGNC
    Primary source
    HGNC:HGNC:12929
    See related
    Ensembl:ENSG00000277258 MIM:600346; AllianceGenome:HGNC:12929
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TPFS; MEL-18; RNF110; ZNF144
    Summary
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 9.0), thyroid (RPKM 6.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PCGF2 in Genome Data Viewer
    Location:
    17q12
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (38733898..38749792, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (39596983..39611419, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (36890151..36904589, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene MLLT6, PHD finger containing Neighboring gene uncharacterized LOC105371762 Neighboring gene microRNA 4726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36881911-36882602 Neighboring gene control region 19 heart enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36887390-36887927 Neighboring gene RNA, 5S ribosomal pseudogene 440 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36891176-36891703 Neighboring gene CDGSH iron sulfur domain 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36898365-36899265 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36901628-36902393 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36902394-36903158 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:36904187-36904722 Neighboring gene uncharacterized LOC100287808 Neighboring gene tRNA-Asn (anticodon GTT) 2-5 Neighboring gene RNA, U6 small nuclear 866, pseudogene Neighboring gene proteasome 20S subunit beta 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Cloning and chromosome mapping of the human Mel-18 gene which encodes a DNA-binding protein with a new 'RING-finger' motif. Ishida A, et al. Gene, 1993 Jul 30. PMID 8325509
    2. Mel-18, a mammalian Polycomb gene, regulates angiogenic gene expression of endothelial cells. Jung JH, et al. Biochem Biophys Res Commun, 2010 Oct 1. PMID 20801102
    3. Low expression of Mel-18 predicts poor prognosis in patients with breast cancer. Guo BH, et al. Ann Oncol, 2010 Dec. PMID 20444850
    4. Mutation analysis of the mel-18 gene that shows decreased expression in human breast cancer cell lines. Matsuo F, et al. Breast Cancer, 2002. PMID 12196719
    5. Loss of the polycomb protein Mel-18 enhances the epithelial-mesenchymal transition by ZEB1 and ZEB2 expression through the downregulation of miR-205 in breast cancer. Lee JY, et al. Oncogene, 2014 Mar 6. PMID 23474752

    See all (80) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SLCO4A1-AS1 triggers the malignant behaviours of melanoma cells via sponging miR-1306-5p to enhance PCGF2.
      Title: SLCO4A1-AS1 triggers the malignant behaviours of melanoma cells via sponging miR-1306-5p to enhance PCGF2.
    2. AKT-mediated regulation of chromatin ubiquitylation and tumorigenesis through Mel18 phosphorylation.
      Title: AKT-mediated regulation of chromatin ubiquitylation and tumorigenesis through Mel18 phosphorylation.
    3. Low expression of Mel-18 is correlated with gastric cancer.
      Title: Mel-18 negatively regulates stem cell-like properties through downregulation of miR-21 in gastric cancer.
    4. Suggest a novel role of PCGF2 in arsenic trioxide-mediated degradation of PML-RARA that PCGF2 might act as a negative regulator of UBE2I via direct interaction.
      Title: PCGF2 negatively regulates arsenic trioxide-induced PML-RARA protein degradation via UBE2I inhibition in NB4 cells.
    5. Mel-18 underexpression in luminal breast cancer cells caused ER-alpha downregulation.Its overexpression restored it in triple-negative breast cancer cells. MEL-18 suppressed SUMOylation of the ESR1 transactivators p53 and SP1.
      Title: MEL-18 loss mediates estrogen receptor-α downregulation and hormone independence.
    6. It was therefore concluded that the lower Mel-18 expression might contribute to colorectal cancer development/progression.
      Title: Expression and clinicopathological significance of Mel-18 mRNA in colorectal cancer.
    7. Mel-18 functions as a tumor suppressor by its novel negative control of the epithelial-mesenchymal transition in breast cancer.
      Title: Loss of the polycomb protein Mel-18 enhances the epithelial-mesenchymal transition by ZEB1 and ZEB2 expression through the downregulation of miR-205 in breast cancer.
    8. Findings suggest that Mel-18 is a novel negative regulator of breast cancer stem cell (CSC) that inhibits the stem cell population and in vitro and in vivo self-renewal through the inactivation of Wnt-mediated Notch signaling.
      Title: Loss of Mel-18 enhances breast cancer stem cell activity and tumorigenicity through activating Notch signaling mediated by the Wnt/TCF pathway.
    9. PCGF2, a PRC1 gene, played a negative role in the granulocytic differentiation of human APL cells.
      Title: Inhibition of PCGF2 enhances granulocytic differentiation of acute promyelocytic leukemia cell line HL-60 via induction of HOXA7.
    10. these findings provide that Mel-18 is a novel regulator of tumor angiogenesis through regulating HIF-1alpha and its target VEGF expressions mediated by the PTEN/PI3K/Akt pathway, suggesting a new tumor-suppressive role of Mel-18 in human breast cancer.
      Title: Loss of Mel-18 induces tumor angiogenesis through enhancing the activity and expression of HIF-1α mediated by the PTEN/PI3K/Akt pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (29)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Turnpenny-fry syndrome
    MedGen: C5193060 OMIM: 618371 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC10545

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables promoter-specific chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in anterior/posterior pattern specification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to hydrogen peroxide IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in embryonic skeletal system morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of PRC1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of PRC1 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of PcG protein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sex chromatin IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    polycomb group RING finger protein 2
    Names
    DNA-binding protein Mel-18
    ring finger protein 110
    zinc finger protein 144

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001369614.1 → NP_001356543.1  polycomb group RING finger protein 2

      Status: REVIEWED

      Source sequence(s)
      AC006449
      Consensus CDS
      CCDS32638.1
      UniProtKB/Swiss-Prot
      A6NGD8, P35227
      Conserved Domains (3) summary
      PLN02217
      Location:236 → 328
      PLN02217; probable pectinesterase/pectinesterase inhibitor
      cd16736
      Location:12 → 65
      RING-HC_PCGF4; RING finger found in polycomb group RING finger protein 4 (PCGF4) and similar proteins
      cd17164
      Location:130 → 228
      RAWUL_PCGF2; RING finger- and WD40-associated ubiquitin-like (RAWUL) domain found in polycomb group RING finger protein 2 (PCGF2)

    2. NM_001369615.1 → NP_001356544.1  polycomb group RING finger protein 2

      Status: REVIEWED

      Source sequence(s)
      AC006449, D13969
      Consensus CDS
      CCDS32638.1
      UniProtKB/Swiss-Prot
      A6NGD8, P35227
      Related
      ENSP00000478970.1, ENST00000611883.4
      Conserved Domains (3) summary
      PLN02217
      Location:236 → 328
      PLN02217; probable pectinesterase/pectinesterase inhibitor
      cd16736
      Location:12 → 65
      RING-HC_PCGF4; RING finger found in polycomb group RING finger protein 4 (PCGF4) and similar proteins
      cd17164
      Location:130 → 228
      RAWUL_PCGF2; RING finger- and WD40-associated ubiquitin-like (RAWUL) domain found in polycomb group RING finger protein 2 (PCGF2)

    3. NM_007144.3 → NP_009075.1  polycomb group RING finger protein 2

      See identical proteins and their annotated locations for NP_009075.1

      Status: REVIEWED

      Source sequence(s)
      AC006449
      Consensus CDS
      CCDS32638.1
      UniProtKB/Swiss-Prot
      A6NGD8, P35227
      Related
      ENSP00000482815.1, ENST00000620225.5
      Conserved Domains (3) summary
      PLN02217
      Location:236 → 328
      PLN02217; probable pectinesterase/pectinesterase inhibitor
      cd16736
      Location:12 → 65
      RING-HC_PCGF4; RING finger found in polycomb group RING finger protein 4 (PCGF4) and similar proteins
      cd17164
      Location:130 → 228
      RAWUL_PCGF2; RING finger- and WD40-associated ubiquitin-like (RAWUL) domain found in polycomb group RING finger protein 2 (PCGF2)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      38733898..38749792 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436660.1 → XP_047292616.1  polycomb group RING finger protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NGD8, P35227

    2. XM_017025016.2 → XP_016880505.1  polycomb group RING finger protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NGD8, P35227
      Conserved Domains (3) summary
      PLN02217
      Location:236 → 328
      PLN02217; probable pectinesterase/pectinesterase inhibitor
      cd16736
      Location:12 → 65
      RING-HC_PCGF4; RING finger found in polycomb group RING finger protein 4 (PCGF4) and similar proteins
      cd17164
      Location:130 → 228
      RAWUL_PCGF2; RING finger- and WD40-associated ubiquitin-like (RAWUL) domain found in polycomb group RING finger protein 2 (PCGF2)

    3. XM_047436661.1 → XP_047292617.1  polycomb group RING finger protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NGD8, P35227

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187614.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      2769217..2783655 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329331.1 → XP_054185306.1  polycomb group RING finger protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NGD8, P35227

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      39596983..39611419 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P35227.1 GenPept UniProtKB/Swiss-Prot:P35227

    Gene LinkOut

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