• Gene id: 55200

Gene Summary

• Gene Symbol: PLEKHG6   Gene   UCSC   Ensembl
• Aliases: MyoGEF
• Gene name: pleckstrin homology and RhoGEF domain containing G6
• Alternate names: pleckstrin homology domain-containing family G member 6, PH domain-containing family G member 6, myosin II interacting GEF, myosin interacting guanine nucleotide exchange factor, pleckstrin homology domain containing, family G (with RhoGef domain) member 6,
• Gene location: 12p13.31 (6310435: 6328505)     Exons: 20     NC_000012.12
• OMIM: 607929

Protein Summary

• Protein general information: Q3KR16  
  • Name: Pleckstrin homology domain containing family G member 6 (PH domain containing family G member 6) (Myosin interacting guanine nucleotide exchange factor) (MyoGEF)
  • Length: 790  
  • Mass: 88960
  • Tissue specificity: Highest expression in the placenta. Low levels in small intestine, lung, liver, kidney, thymus and heart.
• Sequence:

  MKAFGPPHEGPLQGLVASRIETYGGRHRASAQSTAGRLYPRGYPVLDPSRRRLQQYVPFARGSGQARGLSPMRLR
  DPEPEKRHGGHVGAGLLHSPKLKELTKAHELEVRLHTFSMFGMPRLPPEDRRHWEIGEGGDSGLTIEKSWRELVP
  GHKEMSQELCHQQEALWELLTTELIYVRKLKIMTDLLAAGLLNLQRVGLLMEVSAETLFGNVPSLIRTHRSFWDE
  VLGPTLEETRASGQPLDPIGLQSGFLTFGQRFHPYVQYCLRVKQTMAYAREQQETNPLFHAFVQWCEKHKRSGRQ
  MLCDLLIKPHQRITKYPLLLHAVLKRSPEARAQEALNAMIEAVESFLRHINGQVRQGEEQESLAAAAQRIGPYEV
  LEPPSDEVEKNLRPFSTLDLTSPMLGVASEHTRQLLLEGPVRVKEGREGKLDVYLFLFSDVLLVTKPQRKADKAK
  VIRPPLMLEKLVCQPLRDPNSFLLIHLTEFQCVSSALLVHCPSPTDRAQWLEKTQQAQAALQKLKAEEYVQQKRE
  LLTLYRDQDRESPSTRPSTPSLEGSQSSAEGRTPEFSTIIPHLVVTEDTDEDAPLVPDDTSDSGYGTLIPGTPTG
  SRSPLSRLRQRALRRDPRLTFSTLELRDIPLRPHPPDPQAPQRRSAPELPEGILKGGSLPQEDPPTWSEEEDGAS
  ERGNVVVETLHRARLRGQLPSSPTHADSAGESPWESSGEEEEEGPLFLKAGHTSLRPMRAEDMLREIREELASQR
  IEGAEEPRDSRPRKLTRAQLQRMRGPHIIQLDTPLSASEV

• Structural information:
  • Protein Domains: (161..35-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (409..50-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR035899  IPR000219  IPR011993  IPR001849  IPR042918  
  • Prosite: PS50010 PS50003
  • CDD: cd00160
  • STRING: ENSP00000380185
• Other Databases: GeneCards:  PLEKHG6  Malacards:  PLEKHG6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000922	spindle pole	IEA	cellular component
GO:0032154	cleavage furrow	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005902	microvillus	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881