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    G2E3 G2/M-phase specific E3 ubiquitin protein ligase [ Homo sapiens (human) ]

    Gene ID: 55632, updated on 2-Nov-2024

    Summary

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    Official Symbol
    G2E3provided by HGNC
    Official Full Name
    G2/M-phase specific E3 ubiquitin protein ligaseprovided by HGNC
    Primary source
    HGNC:HGNC:20338
    See related
    Ensembl:ENSG00000092140 MIM:611299; AllianceGenome:HGNC:20338
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PHF7B; KIAA1333
    Summary
    Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in apoptotic process and protein ubiquitination. Predicted to act upstream of or within blastocyst development; negative regulation of intrinsic apoptotic signaling pathway; and protein polyubiquitination. Located in Golgi apparatus and cytosol. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 10.5), lymph node (RPKM 4.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See G2E3 in Genome Data Viewer
    Location:
    14q12
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (30559158..30620064)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (24756977..24817883)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (31028364..31089270)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene G2E3 antisense RNA 1 Neighboring gene uncharacterized LOC105370432 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8224 Neighboring gene SYF2 pre-mRNA splicing factor pseudogene 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:31090859-31092058 Neighboring gene sec1 family domain containing 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:31143443-31144642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8226 Neighboring gene NANOG hESC enhancer GRCh37_chr14:31161751-31162310 Neighboring gene ubiquitin conjugating enzyme E2 C pseudogene 1 Neighboring gene ribosomal protein L12 pseudogene 5

    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. Comprehensive analysis of the expression, prognostic significance, and regulation pathway of G2E3 in breast cancer. Shen Y, et al. World J Surg Oncol, 2022 Dec 15. PMID 36517818, Free PMC Article
    2. The G(2) DNA damage checkpoint delays expression of genes encoding mitotic regulators. Crawford DF, et al. J Biol Chem, 2001 Oct 5. PMID 11483598
    3. Screening analysis of ubiquitin ligases reveals G2E3 as a potential target for chemosensitizing cancer cells. Schmidt F, et al. Oncotarget, 2015 Jan 20. PMID 25593194, Free PMC Article
    4. G2E3 is a nucleo-cytoplasmic shuttling protein with DNA damage responsive localization. Brooks WS, et al. Exp Cell Res, 2007 Feb 15. PMID 17239372, Free PMC Article
    5. G2E3 is a dual function ubiquitin ligase required for early embryonic development. Brooks WS, et al. J Biol Chem, 2008 Aug 8. PMID 18511420, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Comprehensive analysis of the expression, prognostic significance, and regulation pathway of G2E3 in breast cancer.
      Title: Comprehensive analysis of the expression, prognostic significance, and regulation pathway of G2E3 in breast cancer.
    2. Results suggest that G2E3 is a molecular determinant of the DDR and cell survival.
      Title: Screening analysis of ubiquitin ligases reveals G2E3 as a potential target for chemosensitizing cancer cells.
    3. Cell cycle phase-specific expression and highly regulated subcellular localization of G2E3 suggest a possible role in cell cycle regulation and the cellular response to DNA damage.
      Title: G2E3 is a nucleo-cytoplasmic shuttling protein with DNA damage responsive localization.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20333, KIAA1333

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin-protein transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    G2/M phase-specific E3 ubiquitin-protein ligase
    Names
    G2/M phase-specific HECT-type E3 ubiquitin transferase
    G2/M-phase specific E3 ubiquitin ligase
    PHD finger protein 7B
    NP_001295026.1
    NP_060239.2
    XP_011535227.1
    XP_011535228.1
    XP_047287508.1
    XP_047287509.1
    XP_047287510.1
    XP_047287511.1
    XP_047287512.1
    XP_047287513.1
    XP_054232304.1
    XP_054232305.1
    XP_054232306.1
    XP_054232307.1
    XP_054232308.1
    XP_054232309.1
    XP_054232310.1
    XP_054232311.1

    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_001308097.2 → NP_001295026.1  G2/M phase-specific E3 ubiquitin-protein ligase isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an exon in the 5' coding region, which results in use of a downstream start codon compared to variant 1. It encodes isoform 2, which has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AB037754, AK296872, AW963891, BC008436, BC040179, BM993069
      Consensus CDS
      CCDS76669.1
      UniProtKB/TrEMBL
      B4DL73, F5GX24
      Related
      ENSP00000391068.2, ENST00000438909.6
      Conserved Domains (4) summary
      smart00119
      Location:365 → 646
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      cd15496
      Location:186 → 239
      PHD_PHF7_G2E3_like; PHD finger found in PHD finger protein 7 (PHF7) and G2/M phase-specific E3 ubiquitin-protein ligase (G2E3)
      cd15669
      Location:1 → 81
      ePHD_PHF7_G2E3_like; Extended PHD finger found in PHD finger protein 7 (PHF7) and G2/M phase-specific E3 ubiquitin-protein ligase (G2E3)
      cl00077
      Location:376 → 646
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

    2. NM_017769.5 → NP_060239.2  G2/M phase-specific E3 ubiquitin-protein ligase isoform 1

      See identical proteins and their annotated locations for NP_060239.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB037754, AI432917, BM993069, DA491192
      Consensus CDS
      CCDS9638.1
      UniProtKB/Swiss-Prot
      Q7L622, Q9BVR2, Q9H9E9, Q9NXC0, Q9P2L3
      UniProtKB/TrEMBL
      G3V483
      Related
      ENSP00000206595.6, ENST00000206595.11
      Conserved Domains (3) summary
      cd15496
      Location:232 → 285
      PHD_PHF7_G2E3_like; PHD finger found in PHD finger protein 7 (PHF7) and G2/M phase-specific E3 ubiquitin-protein ligase (G2E3)
      cd15669
      Location:14 → 127
      ePHD_PHF7_G2E3_like; Extended PHD finger found in PHD finger protein 7 (PHF7) and G2/M phase-specific E3 ubiquitin-protein ligase (G2E3)
      cl27008
      Location:411 → 692
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      30559158..30620064
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536926.3 → XP_011535228.1  G2/M phase-specific E3 ubiquitin-protein ligase isoform X2

      UniProtKB/TrEMBL
      G3V483
      Conserved Domains (4) summary
      smart00119
      Location:372 → 653
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      cd15669
      Location:14 → 127
      ePHD_PHF7_G2E3_like; Extended PHD finger found in PHD finger protein 7 (PHF7) and G2/M phase-specific E3 ubiquitin-protein ligase (G2E3)
      cl00077
      Location:383 → 653
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      cl22851
      Location:210 → 246
      PHD_SF; PHD finger superfamily

    2. XM_047431552.1 → XP_047287508.1  G2/M phase-specific E3 ubiquitin-protein ligase isoform X3

    3. XM_047431554.1 → XP_047287510.1  G2/M phase-specific E3 ubiquitin-protein ligase isoform X5

      Related
      ENSP00000497335.1, ENST00000648008.1

    4. XM_047431556.1 → XP_047287512.1  G2/M phase-specific E3 ubiquitin-protein ligase isoform X7

    5. XM_047431557.1 → XP_047287513.1  G2/M phase-specific E3 ubiquitin-protein ligase isoform X8

      UniProtKB/TrEMBL
      B4DIF9
      Related
      ENST00000544007.5

    6. XM_011536925.3 → XP_011535227.1  G2/M phase-specific E3 ubiquitin-protein ligase isoform X1

      See identical proteins and their annotated locations for XP_011535227.1

      UniProtKB/Swiss-Prot
      Q7L622, Q9BVR2, Q9H9E9, Q9NXC0, Q9P2L3
      UniProtKB/TrEMBL
      G3V483
      Related
      ENSP00000451653.1, ENST00000553504.5
      Conserved Domains (3) summary
      cd15496
      Location:232 → 285
      PHD_PHF7_G2E3_like; PHD finger found in PHD finger protein 7 (PHF7) and G2/M phase-specific E3 ubiquitin-protein ligase (G2E3)
      cd15669
      Location:14 → 127
      ePHD_PHF7_G2E3_like; Extended PHD finger found in PHD finger protein 7 (PHF7) and G2/M phase-specific E3 ubiquitin-protein ligase (G2E3)
      cl27008
      Location:411 → 692
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

    7. XM_047431553.1 → XP_047287509.1  G2/M phase-specific E3 ubiquitin-protein ligase isoform X4

    8. XM_047431555.1 → XP_047287511.1  G2/M phase-specific E3 ubiquitin-protein ligase isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      24756977..24817883
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376330.1 → XP_054232305.1  G2/M phase-specific E3 ubiquitin-protein ligase isoform X2

    2. XM_054376331.1 → XP_054232306.1  G2/M phase-specific E3 ubiquitin-protein ligase isoform X3

    3. XM_054376333.1 → XP_054232308.1  G2/M phase-specific E3 ubiquitin-protein ligase isoform X5

    4. XM_054376335.1 → XP_054232310.1  G2/M phase-specific E3 ubiquitin-protein ligase isoform X7

    5. XM_054376336.1 → XP_054232311.1  G2/M phase-specific E3 ubiquitin-protein ligase isoform X8

      UniProtKB/TrEMBL
      B4DIF9

    6. XM_054376329.1 → XP_054232304.1  G2/M phase-specific E3 ubiquitin-protein ligase isoform X1

      UniProtKB/Swiss-Prot
      Q7L622, Q9BVR2, Q9H9E9, Q9NXC0, Q9P2L3

    7. XM_054376332.1 → XP_054232307.1  G2/M phase-specific E3 ubiquitin-protein ligase isoform X4

    8. XM_054376334.1 → XP_054232309.1  G2/M phase-specific E3 ubiquitin-protein ligase isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7L622.1 GenPept UniProtKB/Swiss-Prot:Q7L622

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