• Gene id: 55632

Gene Summary

• Gene Symbol: G2E3   Gene   UCSC   Ensembl
• Aliases: KIAA1333, PHF7B
• Gene name: G2/M-phase specific E3 ubiquitin protein ligase
• Alternate names: G2/M phase-specific E3 ubiquitin-protein ligase, G2/M phase-specific HECT-type E3 ubiquitin transferase, G2/M-phase specific E3 ubiquitin ligase, PHD finger protein 7B,
• Gene location: 14q12 (30559122: 30620063)     Exons: 16     NC_000014.9
• OMIM: 611299

Protein Summary

• Protein general information: Q7L622  
  • Name: G2/M phase specific E3 ubiquitin protein ligase (EC 2.3.2.26) (G2/M phase specific HECT type E3 ubiquitin transferase)
  • Length: 706  
  • Mass: 80504
  • Tissue specificity: Predominantly expressed in brain, liver, kidney, testes and ovary. {ECO
• Sequence:

  MNESKPGDSQNLACVFCRKHDDCPNKYGEKKTKEKWNLTVHYYCLLMSSGIWQRGKEEEGVYGFLIEDIRKEVNR
  ASKLKCCVCKKNGASIGCVAPRCKRSYHFPCGLQRECIFQFTGNFASFCWDHRPVQIITSNNYRESLPCTICLEF
  IEPIPSYNILRSPCCKNAWFHRDCLQVQAINAGVFFFRCTICNNSDIFQKEMLRMGIHIPEKDASWELEENAYQE
  LLQHYERCDVRRCRCKEGRDYNAPDSKWEIKRCQCCGSSGTHLACSSLRSWEQNWECLECRGIIYNSGEFQKAKK
  HVLPNSNNVGITDCLLEESSPKLPRQSPGSQSKDLLRQGSKFRRNVSTLLIELGFQIKKKTKRLYINKANIWNSA
  LDAFRNRNFNPSYAIEVAYVIENDNFGSEHPGSKQEFLSLLMQHLENSSLFEGSLSKNLSLNSQALKENLYYEAG
  KMLAISLVHGGPSPGFFSKTLFNCLVYGPENTQPILDDVSDFDVAQIIIRINTATTVADLKSIINECYNYLELIG
  CLRLITTLSDKYMLVKDILGYHVIQRVHTPFESFKQGLKTLGVLEKIQAYPEAFCSILCHKPESLSAKILSELFT
  VHTLPDVKALGFWNSYLQAVEDGKSTTTMEDILIFATGCSSIPPAGFKPTPSIECLHVDFPVGNKCNNCLAIPIT
  NTYKEFQENMDFTIRNTLRLEKEESSHYIGH

• Structural information:
  • Protein Domains: (371..69-)
    (/note="HECT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00104"-)
  • Interpro: IPR034732  IPR000569  IPR035983  IPR042013  IPR042012   IPR019786  IPR011011  IPR001965  IPR013083  
  • Prosite: PS51805 PS50237 PS01359
  • CDD: cd15669 cd15496
  • STRING: ENSP00000206595
• Other Databases: GeneCards:  G2E3  Malacards:  G2E3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005730	nucleolus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)