In human, ZIM2 and PEG3 are treated as two distinct genes though they share multiple 5' exons and a common promoter and both genes are paternally expressed (PMID:15203203). Alternative splicing events connect their shared 5' exons either with the remaining 4 exons unique to ZIM2, or with the remaining 2 exons unique to PEG3. In contrast, in other mammals ZIM2 does not undergo i... See more...

Aliases for PEG3 Gene

Aliases for PEG3 Gene

  • Paternally Expressed 3 2 3 5
  • Zinc Finger And SCAN Domain-Containing Protein 24 3 4
  • Paternally-Expressed Gene 3 Protein 3 4
  • ZSCAN24 3 4
  • Kruppel-Type Zinc Finger Protein 3
  • ZKSCAN22 3
  • KIAA0287 4
  • ZNF904 3
  • PW1 3

External Ids for PEG3 Gene

Previous GeneCards Identifiers for PEG3 Gene

  • GC19U990074
  • GC19M061977
  • GC19M061394
  • GC19M062015
  • GC19M057288
  • GC19M057321

Summaries for PEG3 Gene

Entrez Gene Summary for PEG3 Gene

  • In human, ZIM2 and PEG3 are treated as two distinct genes though they share multiple 5' exons and a common promoter and both genes are paternally expressed (PMID:15203203). Alternative splicing events connect their shared 5' exons either with the remaining 4 exons unique to ZIM2, or with the remaining 2 exons unique to PEG3. In contrast, in other mammals ZIM2 does not undergo imprinting and, in mouse, cow, and likely other mammals as well, the ZIM2 and PEG3 genes do not share exons. Human PEG3 protein belongs to the Kruppel C2H2-type zinc finger protein family. PEG3 may play a role in cell proliferation and p53-mediated apoptosis. PEG3 has also shown tumor suppressor activity and tumorigenesis in glioma and ovarian cells. Alternative splicing of this PEG3 gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2009]

GeneCards Summary for PEG3 Gene

PEG3 (Paternally Expressed 3) is a Protein Coding gene. Diseases associated with PEG3 include Glioma and Undifferentiated Embryonal Sarcoma Of The Liver. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and DNA-binding transcription factor activity, RNA polymerase II-specific. An important paralog of this gene is ZNF518A.

UniProtKB/Swiss-Prot Summary for PEG3 Gene

  • Induces apoptosis in cooperation with SIAH1A. Acts as a mediator between p53/TP53 and BAX in a neuronal death pathway that is activated by DNA damage. Acts synergistically with TRAF2 and inhibits TNF induced apoptosis through activation of NF-kappa-B (By similarity). Possesses a tumor suppressing activity in glioma cells.

Gene Wiki entry for PEG3 Gene

Additional gene information for PEG3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PEG3 Gene

Genomics for PEG3 Gene

GeneHancer (GH) Regulatory Elements for PEG3 Gene

Promoters and enhancers for PEG3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J056836 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 512.6 +0.9 898 6.4 POLR2G CTCF TGIF2 ZBTB7A MXI1 SIN3A KMT2B SRSF1 CREB1 USF1 PEG3 ZIM2 MIMT1 lnc-PEG3-5 ZNF264 ZNF548 ZNF805 ZNF587B ZNF586 ZNF550
GH19J056834 Promoter/Enhancer 0.8 EPDnew ENCODE 500.4 +5.2 5205 1.7 POLR2G KMT2B USF1 RBM22 POLR2A RBFOX2 PEG3 ZIM2 lnc-PEG3-5 piR-42229
GH19J056816 Promoter 0.6 EPDnew 512.3 +24.0 23987 0.1 POLR2G RBM22 PAF1 AGO2 PEG3 piR-42229 ZIM2 ZIM3 lnc-PEG3-5 ENSG00000286125
GH19J056812 Promoter 0.6 EPDnew 500.3 +28.2 28192 0.1 RBM22 FOSL2 POLR2A lnc-ZNF835-4 PEG3 PEG3-AS1 piR-42229 ZIM2 ENSG00000286125
GH19J056814 Promoter 0.5 EPDnew 512.2 +26.4 26352 0.1 POLR2G RBM22 PEG3 piR-42229 ZIM2 ZIM3 PEG3-AS1 lnc-ZNF835-4 ENSG00000286125
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PEG3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PEG3

Top Transcription factor binding sites by QIAGEN in the PEG3 gene promoter:
  • AML1a
  • CREB
  • deltaCREB
  • FOXF2
  • GATA-1
  • Sp1

Genomic Locations for PEG3 Gene

Genomic Locations for PEG3 Gene
chr19:56,810,077-56,840,728
(GRCh38/hg38)
Size:
30,652 bases
Orientation:
Minus strand
chr19:57,321,445-57,352,096
(GRCh37/hg19)
Size:
30,652 bases
Orientation:
Minus strand

Genomic View for PEG3 Gene

Genes around PEG3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEG3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEG3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEG3 Gene

Proteins for PEG3 Gene

  • Protein details for PEG3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9GZU2-PEG3_HUMAN
    Recommended name:
    Paternally-expressed gene 3 protein
    Protein Accession:
    Q9GZU2
    Secondary Accessions:
    • A7E2B8
    • B4DIM4
    • C9JP50
    • P78418
    • Q5H9P9
    • Q7Z7H7
    • Q8TF75
    • Q9GZY2

    Protein attributes for PEG3 Gene

    Size:
    1588 amino acids
    Molecular mass:
    180827 Da
    Quaternary structure:
    • Homodimer. Interacts with SIAH1A and SIAH2. Interacts with TRAF2 (By similarity).
    SequenceCaution:
    • Sequence=BAB85588.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=CAI45975.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PEG3 Gene

    Alternative splice isoforms for PEG3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PEG3 Gene

Post-translational modifications for PEG3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PEG3 Gene

Domains & Families for PEG3 Gene

Gene Families for PEG3 Gene

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

Protein Domains for PEG3 Gene

Blocks:
  • Transcriptional regulator SCAN
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PEG3 Gene

GenScript: Design optimal peptide antigens:
  • PEG3 protein (A7E2B8_HUMAN)
  • PEG3 protein (B9EG68_HUMAN)
  • Zinc finger and SCAN domain-containing protein 24 (PEG3_HUMAN)
  • KIAA0287 protein (Q96Q96_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9GZU2

UniProtKB/Swiss-Prot:

PEG3_HUMAN :
  • The SCAN domain enables PEG3 homo- or heterodimerization to control gene expression in a combinatorial fashion.
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
Domain:
  • The SCAN domain enables PEG3 homo- or heterodimerization to control gene expression in a combinatorial fashion.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with PEG3: view

Function for PEG3 Gene

Molecular function for PEG3 Gene

UniProtKB/Swiss-Prot Function:
Induces apoptosis in cooperation with SIAH1A. Acts as a mediator between p53/TP53 and BAX in a neuronal death pathway that is activated by DNA damage. Acts synergistically with TRAF2 and inhibits TNF induced apoptosis through activation of NF-kappa-B (By similarity). Possesses a tumor suppressing activity in glioma cells.
GENATLAS Biochemistry:
zinc finger protein,Kruppel type (C2H2) predominantly expressed in ovary,testis,placenta,murine paternally expressed gene 3

Phenotypes From GWAS Catalog for PEG3 Gene

Gene Ontology (GO) - Molecular Function for PEG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003700 DNA-binding transcription factor activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PEG3: view
genes like me logo Genes that share phenotypes with PEG3: view

Animal Models for PEG3 Gene

MGI Knock Outs for PEG3:
  • Peg3 Peg3<tm1Masu>
  • Peg3 Peg3<tm1a(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for PEG3 Gene

miRTarBase miRNAs that target PEG3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PEG3 Gene

Localization for PEG3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEG3 Gene

Nucleus. Cytoplasm.

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 PEG3 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PEG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005776 autophagosome IEA --
genes like me logo Genes that share ontologies with PEG3: view

Pathways & Interactions for PEG3 Gene

PathCards logo

SuperPathways for PEG3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PEG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006915 apoptotic process IEA --
GO:0010468 regulation of gene expression IEA --
GO:0045944 positive regulation of transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with PEG3: view

No data available for Pathways by source and SIGNOR curated interactions for PEG3 Gene

Drugs & Compounds for PEG3 Gene

(1) Drugs for PEG3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for PEG3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PEG3: view

Transcripts for PEG3 Gene

mRNA/cDNA for PEG3 Gene

28 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PEG3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16a ·
SP1: - - - - - - - - - - -
SP2: - - -
SP3: - - - - - - -
SP4: - - - -
SP5: - - - - - - -
SP6:
SP7: -
SP8: - - - - - -
SP9: - - - - -
SP10: - - - - - - -
SP11: - - - - -
SP12: - - - - -
SP13:

ExUns: 16b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for PEG3 Gene

GeneLoc Exon Structure for
PEG3

Expression for PEG3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PEG3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PEG3 Gene

This gene is overexpressed in Ovary (x7.2) and Brain - Hypothalamus (x6.0).

Protein differential expression in normal tissues from HIPED for PEG3 Gene

This gene is overexpressed in Testis (41.9) and Fetal ovary (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PEG3 Gene



Protein tissue co-expression partners for PEG3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PEG3

SOURCE GeneReport for Unigene cluster for PEG3 Gene:

Hs.731875

mRNA Expression by UniProt/SwissProt for PEG3 Gene:

Q9GZU2-PEG3_HUMAN
Tissue specificity: Brain, glial cells, astrocytes, embryo, placenta, testis, ovary and uterus. In the placenta it is found in the layer of villous cytotrophoblast cells while in the ovary it is found in the cells of the ovarian stroma including the thecal layers around the follicles. Expression is highly repressed in glioma cell lines.

Evidence on tissue expression from TISSUES for PEG3 Gene

  • Nervous system(4.9)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with PEG3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PEG3 Gene

Orthologs for PEG3 Gene

This gene was present in the common ancestor of animals.

Orthologs for PEG3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PEG3 31 30
  • 99.43 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LOC476371 30
  • 81.65 (n)
PEG3 31
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Peg3 17 31 30
  • 67.84 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 30 (a)
ManyToMany
-- 31
  • 29 (a)
ManyToMany
-- 31
  • 29 (a)
ManyToMany
-- 31
  • 28 (a)
ManyToMany
-- 31
  • 28 (a)
ManyToMany
-- 31
  • 27 (a)
ManyToMany
-- 31
  • 27 (a)
ManyToMany
-- 31
  • 27 (a)
ManyToMany
-- 31
  • 27 (a)
ManyToMany
-- 31
  • 27 (a)
ManyToMany
-- 31
  • 27 (a)
ManyToMany
-- 31
  • 26 (a)
ManyToMany
-- 31
  • 26 (a)
ManyToMany
-- 31
  • 26 (a)
ManyToMany
-- 31
  • 26 (a)
ManyToMany
-- 31
  • 26 (a)
ManyToMany
-- 31
  • 26 (a)
ManyToMany
-- 31
  • 25 (a)
ManyToMany
-- 31
  • 25 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 25 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 31
  • 24 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 17 (a)
OneToMany
-- 31
  • 15 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii si:ch211-266d19.4 31
  • 18 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Oaz 31
  • 10 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 22 (a)
ManyToMany
Species where no ortholog for PEG3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • chicken (Gallus gallus)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PEG3 Gene

ENSEMBL:
Gene Tree for PEG3 (if available)
TreeFam:
Gene Tree for PEG3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PEG3: view image

Paralogs for PEG3 Gene

Variants for PEG3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PEG3 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs34051133 -. - p.Arg1576Leup.Arg1576His
rs754473044 A colorectal cancer sample p.Arg594His
rs10412932 - p.Asp983Gly
rs2191432 - p.Ala235Thr
rs34831553 - p.Ala1456Val

Additional dbSNP identifiers (rs#s) for PEG3 Gene

Structural Variations from Database of Genomic Variants (DGV) for PEG3 Gene

Variant ID Type Subtype PubMed ID
esv3644878 CNV loss 21293372
nsv474697 CNV novel sequence insertion 20440878
nsv478290 CNV novel sequence insertion 20440878
nsv833884 CNV loss 17160897

Variation tolerance for PEG3 Gene

Residual Variation Intolerance Score: 93% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.49; 82.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PEG3 Gene

Human Gene Mutation Database (HGMD)
PEG3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PEG3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEG3 Gene

Disorders for PEG3 Gene

MalaCards: The human disease database

(10) MalaCards diseases for PEG3 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glioma
undifferentiated embryonal sarcoma of the liver
  • embryonal sarcoma of the liver
osteogenesis imperfecta, type xvii
  • oi17
osteogenesis imperfecta, type xvi
  • oi16
embryonal sarcoma
  • undifferentiated sarcoma
- elite association - COSMIC cancer census association via MalaCards
Search PEG3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PEG3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PEG3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PEG3 Gene

Publications for PEG3 Gene

  1. The human homolog of a mouse-imprinted gene, Peg3, maps to a zinc finger gene-rich region of human chromosome 19q13.4. (PMID: 9149948) Kim J … Stubbs L (Genome research 1997) 2 3 4 23 54
  2. Paternal monoallelic expression of PEG3 in the human placenta. (PMID: 11331620) Hiby SE … King A (Human molecular genetics 2001) 3 4 23 54
  3. Tumour suppressor activity of human imprinted gene PEG3 in a glioma cell line. (PMID: 11260267) Kohda T … Ishino F (Genes to cells : devoted to molecular & cellular mechanisms 2001) 3 4 23 54
  4. Structure of the SCAN domain of human paternally expressed gene 3 protein. (PMID: 23936039) Rimsa V … Hunter WN (PloS one 2013) 3 4 54
  5. The imprinted gene PEG3 inhibits Wnt signaling and regulates glioma growth. (PMID: 20064927) Jiang X … Johnson MD (The Journal of biological chemistry 2010) 3 23 54

Products for PEG3 Gene

Sources for PEG3 Gene