Human Gene G2E3 (uc001wqk.2)
  Description: Homo sapiens G2/M-phase specific E3 ubiquitin protein ligase (G2E3), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr14:31,028,329-31,089,046 Size: 60,718 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg19 chr14:31,050,286-31,085,740 Size: 35,455 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:31,028,329-31,089,046)mRNA (may differ from genome)Protein (706 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: G2E3_HUMAN
DESCRIPTION: RecName: Full=G2/M phase-specific E3 ubiquitin-protein ligase; EC=6.3.2.-;
FUNCTION: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Essential in early embryonic development to prevent apoptotic death.
PATHWAY: Protein modification; protein ubiquitination.
SUBCELLULAR LOCATION: Nucleus, nucleolus. Cytoplasm. Note=Shuttles between the nucleus and the cytoplasm. In the nucleus, delocalizes from the nucleolus to the nucleoplasm in response to DNA damage.
TISSUE SPECIFICITY: Predominantly expressed in brain, liver, kidney, testes and ovary.
INDUCTION: Up-regulated approximately 4-fold in G2 when compared to S phase. Down-regulated approximately 3-fold by gamma- irradiation.
DOMAIN: Ubiquitin ligase activity is mediated by two distinct domains, PHD-type zinc fingers 2 and 3. The use of these distinct domains may allow ubiquitination of different targets by each domain. The HECT domain is catalytically inactive and does not contribute to this activity.
SIMILARITY: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.
SIMILARITY: Contains 3 PHD-type zinc fingers.
SEQUENCE CAUTION: Sequence=BAA92571.1; Type=Erroneous initiation; Sequence=BAB14280.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): G2E3
CDC HuGE Published Literature: G2E3
Positive Disease Associations: Asthma , Echocardiography
Related Studies:
  1. Asthma
    , , . [PubMed 0]
  2. Echocardiography
    Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics. [PubMed 17903301]
    In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.26 RPKM in Testis
Total median expression: 96.75 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 -55.20154-0.358 Picture PostScript Text
3' UTR -737.163306-0.223 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
IPR000569 - HECT
IPR019786 - Zinc_finger_PHD-type_CS
IPR011011 - Znf_FYVE_PHD
IPR001965 - Znf_PHD
IPR001841 - Znf_RING
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF00632 - HECT-domain (ubiquitin-transferase)
PF13771 - PHD-like zinc-binding domain
PF13832 - PHD-zinc-finger like domain

SCOP Domains:
56204 - Hect, E3 ligase catalytic domain

ModBase Predicted Comparative 3D Structure on Q7L622
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologNo orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  EnsemblFlyBase  
  Protein SequenceProtein Sequence  
  AlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006915 apoptotic process
GO:0007275 multicellular organism development
GO:0016567 protein ubiquitination

Cellular Component:
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  AK093536 - Homo sapiens cDNA FLJ36217 fis, clone THYMU2000767.
AK295571 - Homo sapiens cDNA FLJ58896 complete cds, weakly similar to Homo sapiens PHD finger protein 7 (PHF7), transcript variant 2, mRNA.
AK296872 - Homo sapiens cDNA FLJ58015 complete cds, weakly similar to PHD finger protein 7.
AK225346 - Homo sapiens mRNA for hypothetical protein LOC55632 variant, clone: HEP11252.
AK000340 - Homo sapiens cDNA FLJ20333 fis, clone HEP11252.
BC008436 - Homo sapiens KIAA1333, mRNA (cDNA clone IMAGE:4081945), with apparent retained intron.
AB037754 - Homo sapiens KIAA1333 mRNA for KIAA1333 protein.
BC000973 - Homo sapiens G2/M-phase specific E3 ubiquitin ligase, mRNA (cDNA clone MGC:4967 IMAGE:3450488), complete cds.
AB385450 - Synthetic construct DNA, clone: pF1KA1333, Homo sapiens KIAA1333 gene for E3 ubiquitin-protein ligase KIAA1333 protein, complete cds, without stop codon, in Flexi system.
KJ894220 - Synthetic construct Homo sapiens clone ccsbBroadEn_03614 G2E3 gene, encodes complete protein.
JD395278 - Sequence 376302 from Patent EP1572962.
AK022867 - Homo sapiens cDNA FLJ12805 fis, clone NT2RP2002231.
BC040179 - Homo sapiens G2/M-phase specific E3 ubiquitin ligase, mRNA (cDNA clone IMAGE:4797605), complete cds.
JD360789 - Sequence 341813 from Patent EP1572962.
JD038026 - Sequence 19050 from Patent EP1572962.
JD311048 - Sequence 292072 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: G2E3_HUMAN, KIAA1333, NM_017769, NP_060239, Q7L622, Q9BVR2, Q9H9E9, Q9NXC0, Q9P2L3
UCSC ID: uc001wqk.2
RefSeq Accession: NM_017769
Protein: Q7L622 (aka G2E3_HUMAN)
CCDS: CCDS9638.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_017769.3
exon count: 15CDS single in 3' UTR: no RNA size: 5581
ORF size: 2121CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4412.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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