Human Gene PEG3 (ENST00000326441.15) from GENCODE V44
  Description: Homo sapiens paternally expressed 3 (PEG3), transcript variant 1, mRNA. (from RefSeq NM_006210)
RefSeq Summary (NM_006210): 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].
Gencode Transcript: ENST00000326441.15
Gencode Gene: ENSG00000198300.14
Transcript (Including UTRs)
   Position: hg38 chr19:56,810,082-56,840,726 Size: 30,645 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg38 chr19:56,813,675-56,824,655 Size: 10,981 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:56,810,082-56,840,726)mRNA (may differ from genome)Protein (1588 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
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-  Comments and Description Text from UniProtKB
  ID: PEG3_HUMAN
DESCRIPTION: RecName: Full=Paternally-expressed gene 3 protein; AltName: Full=Zinc finger and SCAN domain-containing protein 24;
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.
SUBUNIT: Homodimer. Interacts with SIAH1A and SIAH2. Interacts with TRAF2 (By similarity).
SUBCELLULAR LOCATION: Nucleus (By similarity). Cytoplasm (By similarity).
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.
SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family.
SIMILARITY: Contains 12 C2H2-type zinc fingers.
SIMILARITY: Contains 1 SCAN box domain.
SEQUENCE CAUTION: Sequence=BAB85588.1; Type=Frameshift; Positions=Several; Sequence=CAI45975.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PEG3
Diseases sorted by gene-association score: glioma (29), undifferentiated embryonal sarcoma of the liver (10), embryonal sarcoma (6), diabetes mellitus, transient neonatal, 1 (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 131.21 RPKM in Ovary
Total median expression: 658.18 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -160.80394-0.408 Picture PostScript Text
3' UTR -884.803593-0.246 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008916 - Retrov_capsid_C
IPR003309 - Tscrpt_reg_SCAN
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF02023 - SCAN domain
PF00096 - Zinc finger, C2H2 type

ModBase Predicted Comparative 3D Structure on Q9GZU2
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003676 nucleic acid binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006355 regulation of transcription, DNA-templated
GO:0006915 apoptotic process
GO:0010468 regulation of gene expression
GO:0045944 positive regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005776 autophagosome


-  Descriptions from all associated GenBank mRNAs
  AF166122 - Homo sapiens Kruppel-type zinc-finger protein (ZIM2) mRNA, complete cds.
BC104878 - Homo sapiens zinc finger, imprinted 2, mRNA (cDNA clone MGC:132538 IMAGE:8143881), complete cds.
BC104876 - Homo sapiens zinc finger, imprinted 2, mRNA (cDNA clone MGC:132536 IMAGE:8143879), complete cds.
BC143663 - Homo sapiens cDNA clone IMAGE:9052177, with apparent retained intron.
BC143664 - Homo sapiens cDNA clone IMAGE:9052178, with apparent retained intron.
KJ898523 - Synthetic construct Homo sapiens clone ccsbBroadEn_07917 ZIM2 gene, encodes complete protein.
BC037330 - Homo sapiens paternally expressed 3, mRNA (cDNA clone IMAGE:5263794).
CR933682 - Homo sapiens mRNA; cDNA DKFZp781A095 (from clone DKFZp781A095).
U90336 - Human PEG3 mRNA, partial cds.
BC150272 - Homo sapiens paternally expressed 3, mRNA (cDNA clone MGC:166874 IMAGE:9007244), complete cds.
AB003039 - Homo sapiens PEG3 mRNA for zinc finger protein, complete cds.
AB006625 - Homo sapiens mRNA for KIAA0287 gene.
JD264400 - Sequence 245424 from Patent EP1572962.
AF208967 - Homo sapiens Kruppel-type zinc finger protein (PEG3) mRNA, alternative splice form 1, complete cds.
JD388090 - Sequence 369114 from Patent EP1572962.
BC136268 - Homo sapiens paternally expressed 3, mRNA (cDNA clone MGC:167878 IMAGE:9020255), complete cds.
JD046882 - Sequence 27906 from Patent EP1572962.
JD328435 - Sequence 309459 from Patent EP1572962.
AK295679 - Homo sapiens cDNA FLJ50775 complete cds, highly similar to Homo sapiens paternally expressed 3 (PEG3), mRNA.
JD440025 - Sequence 421049 from Patent EP1572962.
JD083031 - Sequence 64055 from Patent EP1572962.
JD430751 - Sequence 411775 from Patent EP1572962.
AB383839 - Synthetic construct DNA, clone: pF1KSDA0287, Homo sapiens PEG3 gene for paternally expressed 3 protein, complete cds, without stop codon, in Flexi system.
AF208970 - Homo sapiens Kruppel-type zinc finger protein (PEG3) mRNA, alternative splice form 4, partial cds.
AF208968 - Homo sapiens Kruppel-type zinc finger protein (PEG3) mRNA, alternative splice form 2, partial cds.
AF208969 - Homo sapiens Kruppel-type zinc finger protein (PEG3) mRNA, alternative splice form 3, partial cds.
DQ574117 - Homo sapiens piRNA piR-42229, complete sequence.
AK307476 - Homo sapiens cDNA, FLJ97424.
BC052616 - Homo sapiens paternally expressed 3, mRNA (cDNA clone IMAGE:6294010), partial cds.
JD299441 - Sequence 280465 from Patent EP1572962.
JD078661 - Sequence 59685 from Patent EP1572962.
JD500219 - Sequence 481243 from Patent EP1572962.
JD228906 - Sequence 209930 from Patent EP1572962.
JD293882 - Sequence 274906 from Patent EP1572962.
JD549894 - Sequence 530918 from Patent EP1572962.
JD472075 - Sequence 453099 from Patent EP1572962.
JD236106 - Sequence 217130 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000326441.1, ENST00000326441.10, ENST00000326441.11, ENST00000326441.12, ENST00000326441.13, ENST00000326441.14, ENST00000326441.2, ENST00000326441.3, ENST00000326441.4, ENST00000326441.5, ENST00000326441.6, ENST00000326441.7, ENST00000326441.8, ENST00000326441.9, KIAA0287, NM_006210, P78418, PEG3_HUMAN, Q5H9P9, Q7Z7H7, Q8TF75, Q9GZU2, Q9GZY2, uc002qnv.1, uc002qnv.2, uc002qnv.3, uc002qnv.4, uc002qnv.5, ZSCAN24
UCSC ID: ENST00000326441.15
RefSeq Accession: NM_006210
Protein: Q9GZU2 (aka PEG3_HUMAN)
CCDS: CCDS12948.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.