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PEG3 paternally expressed 3 [ Homo sapiens (human) ]

Gene ID: 5178, updated on 11-Jun-2021

Summary

Official Symbol
PEG3provided by HGNC
Official Full Name
paternally expressed 3provided by HGNC
Primary source
HGNC:HGNC:8826
See related
Ensembl:ENSG00000198300 MIM:601483
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]
Expression
Biased expression in ovary (RPKM 126.4), placenta (RPKM 67.7) and 4 other tissues See more
Orthologs
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Genomic context

See PEG3 in Genome Data Viewer
Location:
19q13.43
Exon count:
15
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (56810082..56840726, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (57321450..57352094, 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 Neighboring gene Sharpr-MPRA regulatory region 10473

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0287, DKFZp781A095

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in apoptotic process 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
PubMed 
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in autophagosome ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
paternally-expressed gene 3 protein
Names
Kruppel-type zinc finger protein
zinc finger and SCAN domain-containing protein 24

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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..35648
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001146184.2NP_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 and 2 both encode the same isoform (1).
    Source sequence(s)
    AF208967, AF208968, AI089069, AK295679, BC037330, CR933682
    Consensus CDS
    CCDS12948.1
    UniProtKB/Swiss-Prot
    Q9GZU2
    Related
    ENSP00000469486.1, ENST00000599577.5
    Conserved Domains (5) summary
    PHA00666
    Location:14211501
    PHA00666; putative protease
    sd00017
    Location:507527
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:969991
    zf-C2H2; Zinc finger, C2H2 type
    pfam02023
    Location:42124
    SCAN; SCAN domain
    pfam08648
    Location:141237
    DUF1777; Protein of unknown function (DUF1777)
  2. NM_001146185.2NP_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
    ENSP00000472402.1, ENST00000593695.5
    Conserved Domains (4) summary
    PHA00666
    Location:12951375
    PHA00666; putative protease
    sd00017
    Location:381401
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:843865
    zf-C2H2; Zinc finger, C2H2 type
    pfam08648
    Location:15111
    DUF1777; Protein of unknown function (DUF1777)
  3. NM_001146187.2NP_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. Variants 5, 9-22, and 30 all encode the same isoform (3).
    Source sequence(s)
    AB006625, AF208967, AI089069, AK295679, BC037330, CR933682
    Consensus CDS
    CCDS58684.1
    UniProtKB/Swiss-Prot
    Q9GZU2
    UniProtKB/TrEMBL
    Q96Q96
    Related
    ENSP00000473190.1, ENST00000598410.5
    Conserved Domains (3) summary
    PHA03169
    Location:12951379
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:383403
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:845867
    zf-C2H2; Zinc finger, C2H2 type
  4. NM_001369717.1NP_001356646.1  paternally-expressed gene 3 protein isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6), as well as variant 7, encodes the longest isoform (4).
    Source sequence(s)
    AC006115
    Conserved Domains (4) summary
    PHA03169
    Location:14211505
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:509529
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:971993
    zf-C2H2; Zinc finger, C2H2 type
    pfam02023
    Location:42129
    SCAN; SCAN domain
  5. NM_001369718.1NP_001356647.1  paternally-expressed gene 3 protein isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variant 6, encodes the longest isoform (4).
    Source sequence(s)
    AC006115
    Conserved Domains (4) summary
    PHA03169
    Location:14211505
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:509529
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:971993
    zf-C2H2; Zinc finger, C2H2 type
    pfam02023
    Location:42129
    SCAN; SCAN domain
  6. NM_001369719.1NP_001356648.1  paternally-expressed gene 3 protein isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC006115
    Conserved Domains (4) summary
    PHA03169
    Location:13901474
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:478498
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:940962
    zf-C2H2; Zinc finger, C2H2 type
    pfam02023
    Location:42129
    SCAN; SCAN domain
  7. NM_001369720.1NP_001356649.1  paternally-expressed gene 3 protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 5, 10-22, and 30, encodes isoform 3.
    Source sequence(s)
    AC006115
    Related
    ENSP00000497332.1, ENST00000647852.1
    Conserved Domains (3) summary
    PHA03169
    Location:12951379
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:383403
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:845867
    zf-C2H2; Zinc finger, C2H2 type
  8. NM_001369721.1NP_001356650.1  paternally-expressed gene 3 protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variants 5, 9, 11-22, and 30, encodes isoform 3.
    Source sequence(s)
    AC006115
    Conserved Domains (3) summary
    PHA03169
    Location:12951379
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:383403
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:845867
    zf-C2H2; Zinc finger, C2H2 type
  9. NM_001369722.1NP_001356651.1  paternally-expressed gene 3 protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), as well as variants 5, 9, 10, 12-22, and 30, encodes isoform 3.
    Source sequence(s)
    AC006115
    Related
    ENSP00000497512.1, ENST00000649680.1
    Conserved Domains (3) summary
    PHA03169
    Location:12951379
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:383403
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:845867
    zf-C2H2; Zinc finger, C2H2 type
  10. NM_001369723.1NP_001356652.1  paternally-expressed gene 3 protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12), as well as variants 5, 9-11, 13-22, and 30, encodes isoform 3.
    Source sequence(s)
    AC006115
    Related
    ENSP00000497466.1, ENST00000650102.1
    Conserved Domains (3) summary
    PHA03169
    Location:12951379
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:383403
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:845867
    zf-C2H2; Zinc finger, C2H2 type
  11. NM_001369724.1NP_001356653.1  paternally-expressed gene 3 protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13), as well as variants 5, 9-12, 14-22, and 30, encodes isoform 3.
    Source sequence(s)
    AC006115
    Conserved Domains (3) summary
    PHA03169
    Location:12951379
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:383403
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:845867
    zf-C2H2; Zinc finger, C2H2 type
  12. NM_001369725.1NP_001356654.1  paternally-expressed gene 3 protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14), as well as variants 5, 9-13, 15-22, and 30, encodes isoform 3.
    Source sequence(s)
    AC006115
    Conserved Domains (3) summary
    PHA03169
    Location:12951379
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:383403
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:845867
    zf-C2H2; Zinc finger, C2H2 type
  13. NM_001369726.1NP_001356655.1  paternally-expressed gene 3 protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15), as well as variants 5, 9-14, 16-22, and 30, encodes isoform 3.
    Source sequence(s)
    AC006115
    Related
    ENSP00000497971.1, ENST00000650632.1
    Conserved Domains (3) summary
    PHA03169
    Location:12951379
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:383403
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:845867
    zf-C2H2; Zinc finger, C2H2 type
  14. NM_001369727.1NP_001356656.1  paternally-expressed gene 3 protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16), as well as variants 5, 9-15, 17-22, and 30, encodes isoform 3.
    Source sequence(s)
    AC006115
    Conserved Domains (3) summary
    PHA03169
    Location:12951379
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:383403
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:845867
    zf-C2H2; Zinc finger, C2H2 type
  15. NM_001369728.1NP_001356657.1  paternally-expressed gene 3 protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (17), as well as variants 5, 9-16, 18-22, and 30, encodes isoform 3.
    Source sequence(s)
    AC006115
    Related
    ENSP00000496867.1, ENST00000649876.1
    Conserved Domains (3) summary
    PHA03169
    Location:12951379
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:383403
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:845867
    zf-C2H2; Zinc finger, C2H2 type
  16. NM_001369729.1NP_001356658.1  paternally-expressed gene 3 protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (18), as well as variants 5, 9-17, 19-22, and 30, encodes isoform 3.
    Source sequence(s)
    AC006115
    Conserved Domains (3) summary
    PHA03169
    Location:12951379
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:383403
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:845867
    zf-C2H2; Zinc finger, C2H2 type
  17. NM_001369730.1NP_001356659.1  paternally-expressed gene 3 protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (19), as well as variants 5, 9-18, 20-22, and 30, encodes isoform 3.
    Source sequence(s)
    AC006115
    Conserved Domains (3) summary
    PHA03169
    Location:12951379
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:383403
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:845867
    zf-C2H2; Zinc finger, C2H2 type
  18. NM_001369731.1NP_001356660.1  paternally-expressed gene 3 protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (20), as well as variants 5, 9-19, 21, 22, and 30, encodes isoform 3.
    Source sequence(s)
    AC006115
    Related
    ENSP00000498047.1, ENST00000649233.1
    Conserved Domains (3) summary
    PHA03169
    Location:12951379
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:383403
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:845867
    zf-C2H2; Zinc finger, C2H2 type
  19. NM_001369732.1NP_001356661.1  paternally-expressed gene 3 protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (21), as well as variants 5, 9-20, 22, and 30, encodes isoform 3.
    Source sequence(s)
    AC006115
    Conserved Domains (3) summary
    PHA03169
    Location:12951379
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:383403
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:845867
    zf-C2H2; Zinc finger, C2H2 type
  20. NM_001369733.1NP_001356662.1  paternally-expressed gene 3 protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (22), as well as variants 5, 9-21, and 30, encodes isoform 3.
    Source sequence(s)
    AC006115
    Related
    ENSP00000498138.1, ENST00000649428.1
    Conserved Domains (3) summary
    PHA03169
    Location:12951379
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:383403
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:845867
    zf-C2H2; Zinc finger, C2H2 type
  21. NM_001369734.1NP_001356663.1  paternally-expressed gene 3 protein isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (23), as well as variants 24-27, encodes isoform 6.
    Source sequence(s)
    AC006115
    Conserved Domains (3) summary
    PHA03169
    Location:12641348
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:352372
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:814836
    zf-C2H2; Zinc finger, C2H2 type
  22. NM_001369735.1NP_001356664.1  paternally-expressed gene 3 protein isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (24), as well as variants 23 and 25-27, encodes isoform 6.
    Source sequence(s)
    AC006115
    Conserved Domains (3) summary
    PHA03169
    Location:12641348
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:352372
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:814836
    zf-C2H2; Zinc finger, C2H2 type
  23. NM_001369736.1NP_001356665.1  paternally-expressed gene 3 protein isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (25), as well as variants 23, 24, 26, and 27, encodes isoform 6.
    Source sequence(s)
    AC006115
    Related
    ENSP00000496853.1, ENST00000647621.1
    Conserved Domains (3) summary
    PHA03169
    Location:12641348
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:352372
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:814836
    zf-C2H2; Zinc finger, C2H2 type
  24. NM_001369737.1NP_001356666.1  paternally-expressed gene 3 protein isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (26), as well as variants 23-25 and 27, encodes isoform 6.
    Source sequence(s)
    AC006115
    Conserved Domains (3) summary
    PHA03169
    Location:12641348
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:352372
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:814836
    zf-C2H2; Zinc finger, C2H2 type
  25. NM_001369738.1NP_001356667.1  paternally-expressed gene 3 protein isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (27), as well as variants 23-26, encodes isoform 6.
    Source sequence(s)
    AC006115
    Conserved Domains (3) summary
    PHA03169
    Location:12641348
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:352372
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:814836
    zf-C2H2; Zinc finger, C2H2 type
  26. NM_001369739.1NP_001356668.1  paternally-expressed gene 3 protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (30), as well as variants 5 and 9-22, encodes isoform 3.
    Source sequence(s)
    AC006115
    Related
    ENSP00000496914.1, ENST00000648694.1
    Conserved Domains (3) summary
    PHA03169
    Location:12951379
    PHA03169; hypothetical protein; Provisional
    sd00017
    Location:383403
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:845867
    zf-C2H2; Zinc finger, C2H2 type
  27. NM_006210.3NP_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 isoform 1. Variants 1 and 2 both encode the same isoform (1).
    Source sequence(s)
    AF208967, AI089069, AK295679, BC037330, CR933682
    Consensus CDS
    CCDS12948.1
    UniProtKB/Swiss-Prot
    Q9GZU2
    Related
    ENSP00000326581.7, ENST00000326441.15
    Conserved Domains (5) summary
    PHA00666
    Location:14211501
    PHA00666; putative protease
    sd00017
    Location:507527
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:969991
    zf-C2H2; Zinc finger, C2H2 type
    pfam02023
    Location:42124
    SCAN; SCAN domain
    pfam08648
    Location:141237
    DUF1777; Protein of unknown function (DUF1777)

RNA

  1. NR_161475.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC006115
  2. NR_161476.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC006115

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    56810082..56840726 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001146186.1: Suppressed sequence

    Description
    NM_001146186.1: This RefSeq was removed because currently there is insufficient support for the 5' end of the transcript.
Support Center