• Gene id: 1894

Gene Summary

• Gene Symbol: ECT2   Gene   UCSC   Ensembl
• Aliases: ARHGEF31
• Gene name: epithelial cell transforming 2
• Alternate names: protein ECT2, epithelial cell-transforming sequence 2 oncogene,
• Gene location: 3q26.31 (172750684: 172829272)     Exons: 29     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is a guanine nucleotide exchange factor and transforming protein that is related to Rho-specific exchange factors and yeast cell cycle regulators. The expression of this gene is elevated with the onset of DNA synthesis and
• OMIM: 600586

Protein Summary

• Protein general information: Q9H8V3  
  • Name: Protein ECT2 (Epithelial cell transforming sequence 2 oncogene)
  • Length: 914  
  • Mass: 103505
  • Tissue specificity: Expressed in lung epithelial cells (at protein level). Expressed in squamous cell carcinoma, primary non-small cell lung cancer tumors and lung adenocarcinoma. {ECO
• Sequence:

  MAENSVLTSTTGRTSLADSSIFDSKVTEISKENLLIGSTSYVEEEMPQIETRVILVQEAGKQEELIKALKTIKIM
  EVPVIKIKESCPGKSDEKLIKSVINMDIKVGFVKMESVEEFEGLDSPEFENVFVVTDFQDSVFNDLYKADCRVIG
  PPVVLNCSQKGEPLPFSCRPLYCTSMMNLVLCFTGFRKKEELVRLVTLVHHMGGVIRKDFNSKVTHLVANCTQGE
  KFRVAVSLGTPIMKPEWIYKAWERRNEQDFYAAVDDFRNEFKVPPFQDCILSFLGFSDEEKTNMEEMTEMQGGKY
  LPLGDERCTHLVVEENIVKDLPFEPSKKLYVVKQEWFWGSIQMDARAGETMYLYEKANTPELKKSVSMLSLNTPN
  SNRKRRRLKETLAQLSRETDVSPFPPRKRPSAEHSLSIGSLLDISNTPESSINYGDTPKSCTKSSKSSTPVPSKQ
  SARWQVAKELYQTESNYVNILATIIQLFQVPLEEEGQRGGPILAPEEIKTIFGSIPDIFDVHTKIKDDLEDLIVN
  WDESKSIGDIFLKYSKDLVKTYPPFVNFFEMSKETIIKCEKQKPRFHAFLKINQAKPECGRQSLVELLIRPVQRL
  PSVALLLNDLKKHTADENPDKSTLEKAIGSLKEVMTHINEDKRKTEAQKQIFDVVYEVDGCPANLLSSHRSLVQR
  VETISLGEHPCDRGEQVTLFLFNDCLEIARKRHKVIGTFRSPHGQTRPPASLKHIHLMPLSQIKKVLDIRETEDC
  HNAFALLVRPPTEQANVLLSFQMTSDELPKENWLKMLCRHVANTICKADAENLIYTADPESFEVNTKDMDSTLSR
  ASRAIKKTSKKVTRAFSFSKTPKRALRRALMTSHGSVEGRSPSSNDKHVMSRLSSTSSLAGIPSPSLVSLPSFFE
  RRSHTLSRSTTHLI

• Structural information:
  • Protein Domains: (171..26-)
    (/note="BRCT-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00033-)
    (266..35-)
    (/note="BRCT-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00033-)
    (452..64-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (-)
  • Interpro: IPR001357  IPR036420  IPR035899  IPR000219  IPR026817   IPR001331  IPR011993  
  • Prosite: PS50172 PS00741 PS50010
  • CDD: cd00160
  • PDB: 3L46 4N40 6L30
  • PDBsum: 3L46 4N40 6L30
  • DIP: 47496
  • STRING: ENSP00000376457
• Other Databases: GeneCards:  ECT2  Malacards:  ECT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090630	activation of GTPase activity	IBA	biological process
GO:0030676	Rac guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0005938	cell cortex	IBA	cellular component
GO:0007399	nervous system development	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000281	mitotic cytokinesis	IBA	biological process
GO:0097149	centralspindlin complex	IDA	cellular component
GO:0071277	cellular response to calcium ion	IDA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0090630	activation of GTPase activity	IDA	biological process
GO:0005923	bicellular tight junction	IDA	cellular component
GO:0005911	cell-cell junction	IDA	cellular component
GO:0072686	mitotic spindle	IDA	cellular component
GO:0072686	mitotic spindle	IDA	cellular component
GO:0072686	mitotic spindle	IDA	cellular component
GO:0072686	mitotic spindle	IDA	cellular component
GO:0071479	cellular response to ionizing radiation	IDA	biological process
GO:0070301	cellular response to hydrogen peroxide	IDA	biological process
GO:0051260	protein homooligomerization	IDA	biological process
GO:0045859	regulation of protein kinase activity	IDA	biological process
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0032467	positive regulation of cytokinesis	IDA	biological process
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0032154	cleavage furrow	IDA	cellular component
GO:0032154	cleavage furrow	IDA	cellular component
GO:0032147	activation of protein kinase activity	IDA	biological process
GO:0030496	midbody	IDA	cellular component
GO:0030496	midbody	IDA	cellular component
GO:0030496	midbody	IDA	cellular component
GO:0030496	midbody	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0051988	regulation of attachment of spindle microtubules to kinetochore	IMP	biological process
GO:0045666	positive regulation of neuron differentiation	ISS	biological process
GO:0042307	positive regulation of protein import into nucleus	ISS	biological process
GO:0090630	activation of GTPase activity	IMP	biological process
GO:0070830	bicellular tight junction assembly	IMP	biological process
GO:0032467	positive regulation of cytokinesis	IMP	biological process
GO:0032467	positive regulation of cytokinesis	IMP	biological process
GO:0032467	positive regulation of cytokinesis	IMP	biological process
GO:0032467	positive regulation of cytokinesis	IMP	biological process
GO:0032467	positive regulation of cytokinesis	IMP	biological process
GO:0043547	positive regulation of GTPase activity	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005096	GTPase activator activity	IMP	molecular function
GO:0000281	mitotic cytokinesis	IMP	biological process
GO:2000431	regulation of cytokinesis, actomyosin contractile ring assembly	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0043065	positive regulation of apoptotic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000902	cell morphogenesis	IEA	biological process
GO:0017048	Rho GTPase binding	IEA	molecular function
GO:0042307	positive regulation of protein import into nucleus	IEA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0032154	cleavage furrow	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0030496	midbody	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	HMP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray