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PEG3 paternally expressed 3 [ Homo sapiens (human) ]

Gene ID: 5178, updated on 8-May-2016
Official Symbol
PEG3provided by HGNC
Official Full Name
paternally expressed 3provided by HGNC
Primary source
HGNC:HGNC:8826
See related
Ensembl:ENSG00000198300 HPRD:03285; MIM:601483; Vega:OTTHUMG00000171953; Vega:OTTHUMG00000171954
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
PW1; ZNF904; ZSCAN24; ZKSCAN22
Summary
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]
Orthologs
Location:
19q13.4
Exon count:
10
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 19 NC_000019.10 (56810077..56840726, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (57285730..57352121, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 5 subfamily AH member 1 pseudogene Neighboring gene ZIM2 antisense RNA 1 Neighboring gene zinc finger imprinted 2 Neighboring gene PEG3 antisense RNA 1 Neighboring gene MER1 repeat containing imprinted transcript 1 (non-protein coding) Neighboring gene uncharacterized LOC105372474

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-05-17)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-05-17)

ClinGen Genome Curation Page
  • TNF-alpha/NF-kB Signaling Pathway, organism-specific biosystem (from WikiPathways)
    TNF-alpha/NF-kB Signaling Pathway, organism-specific biosystem"The Tumor Necrosis Factor alpha is a proinflammatory cytokine belonging to the TNF superfamily. It signals through 2 separate receptors - TNFRSF1A and TNFRSF1B, both members of the TNF receptor supe...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0287, DKFZp781A095

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
nucleic acid binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
paternally-expressed gene 3 protein
Names
Kruppel-type zinc finger protein
zinc finger and SCAN domain-containing protein 24

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.

Genomic

  1. NG_012989.1 RefSeqGene

    Range
    5004..35653
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001146184.1NP_001139656.1  paternally-expressed gene 3 protein isoform 1

    See identical proteins and their annotated locations for NP_001139656.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is missing a 5' non-coding exon, therefore, has a shorter 5' UTR compared to variant 1. Variants 1, 2 and 4 encode the same isoform (1).
    Source sequence(s)
    AF208967, AF208968, AI089069, AK295679, BC037330, CR933682
    Consensus CDS
    CCDS12948.1
    UniProtKB/Swiss-Prot
    Q9GZU2
    Related
    ENSP00000469486, OTTHUMP00000247282, ENST00000599577, OTTHUMT00000416103
    Conserved Domains (3) summary
    cd07936
    Location:42125
    SCAN; SCAN oligomerization domain
    PHA00666
    Location:14211501
    PHA00666; putative protease
    sd00017
    Location:507527
    ZF_C2H2; C2H2 Zn finger [structural motif]
  2. NM_001146185.1NP_001139657.1  paternally-expressed gene 3 protein isoform 2

    See identical proteins and their annotated locations for NP_001139657.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) is missing a 5' non-coding exon, and uses an alternate acceptor splice site at the first coding exon compared to variant 1. This results in the use of an in-frame downstream start codon, and an isoform (2) with a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AF208967, AF208969, AI089069, AK295679, BC037330, CR933682
    Consensus CDS
    CCDS58685.1
    UniProtKB/Swiss-Prot
    Q9GZU2
    Related
    ENSP00000472402, OTTHUMP00000247280, ENST00000593695, OTTHUMT00000416101
    Conserved Domains (2) summary
    PHA00666
    Location:12951375
    PHA00666; putative protease
    sd00017
    Location:381401
    ZF_C2H2; C2H2 Zn finger [structural motif]
  3. NM_001146186.1NP_001139658.1  paternally-expressed gene 3 protein isoform 1

    See identical proteins and their annotated locations for NP_001139658.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 4 encode the same isoform (1).
    Source sequence(s)
    AF208967, AF208970, AI089069, BC037330, CR933682
    Consensus CDS
    CCDS12948.1
    UniProtKB/Swiss-Prot
    Q9GZU2
    Related
    ENSP00000472395, OTTHUMP00000247281, ENST00000599534, OTTHUMT00000416102
    Conserved Domains (3) summary
    cd07936
    Location:42125
    SCAN; SCAN oligomerization domain
    PHA00666
    Location:14211501
    PHA00666; putative protease
    sd00017
    Location:507527
    ZF_C2H2; C2H2 Zn finger [structural motif]
  4. NM_001146187.1NP_001139659.1  paternally-expressed gene 3 protein isoform 3

    See identical proteins and their annotated locations for NP_001139659.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) is missing a 5' non-coding exon, and uses alternate splice sites at several coding exons compared to variant 1. This results in the use of an in-frame downstream start codon, and an isoform (3) with a shorter N-terminus and two additional internal aa compared to isoform 1.
    Source sequence(s)
    AB006625, AF208967, AI089069, AK295679, BC037330, CR933682
    Consensus CDS
    CCDS58684.1
    UniProtKB/Swiss-Prot
    Q9GZU2
    UniProtKB/TrEMBL
    Q96Q96
    Related
    ENSP00000473190, OTTHUMP00000247279, ENST00000598410, OTTHUMT00000416100
    Conserved Domains (2) summary
    PHA00666
    Location:12971377
    PHA00666; putative protease
    sd00017
    Location:383403
    ZF_C2H2; C2H2 Zn finger [structural motif]
  5. NM_006210.2NP_006201.1  paternally-expressed gene 3 protein isoform 1

    See identical proteins and their annotated locations for NP_006201.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1, 2 and 4 encode the same protein.
    Source sequence(s)
    AF208967, AI089069, AK295679, BC037330, CR933682
    Consensus CDS
    CCDS12948.1
    UniProtKB/Swiss-Prot
    Q9GZU2
    Related
    ENSP00000326581, OTTHUMP00000247278, ENST00000326441, OTTHUMT00000416099
    Conserved Domains (3) summary
    cd07936
    Location:42125
    SCAN; SCAN oligomerization domain
    PHA00666
    Location:14211501
    PHA00666; putative protease
    sd00017
    Location:507527
    ZF_C2H2; C2H2 Zn finger [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

    Range
    56810077..56840726 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    57315016..57345647 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)