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

Gene ID: 7703, updated on 2-Nov-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
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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 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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

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