• Gene id: 9181

Gene Summary

• Gene Symbol: ARHGEF2   Gene   UCSC   Ensembl
• Aliases: GEF, GEF-H1, GEFH1, LFP40, Lfc, NEDMHM, P40
• Gene name: Rho/Rac guanine nucleotide exchange factor 2
• Alternate names: rho guanine nucleotide exchange factor 2, Rho/Rac guanine nucleotide exchange factor (GEF) 2, guanine nucleotide exchange factor H1, microtubule-regulated Rho-GEF, proliferating cell nucleolar antigen p40,
• Gene location: 1q22 (155991261: 155946838)     Exons: 34     NC_000001.11
• Gene summary(Entrez): Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alterna
• OMIM: 104610

Protein Summary

• Protein general information: Q92974  
  • Name: Rho guanine nucleotide exchange factor 2 (Guanine nucleotide exchange factor H1) (GEF H1) (Microtubule regulated Rho GEF) (Proliferating cell nucleolar antigen p40)
  • Length: 986  
  • Mass: 111543
• Sequence:

  MSRIESLTRARIDRSRELASKTREKEKMKEAKDARYTNGHLFTTISVSGMTMCYACNKSITAKEALICPTCNVTI
  HNRCKDTLANCTKVKQKQQKAALLKNNTALQSVSLRSKTTIRERPSSAIYPSDSFRQSLLGSRRGRSSLSLAKSV
  STTNIAGHFNDESPLGLRRILSQSTDSLNMRNRTLSVESLIDEAEVIYSELMSDFEMDEKDFAADSWSLAVDSSF
  LQQHKKEVMKQQDVIYELIQTELHHVRTLKIMTRLFRTGMLEELHLEPGVVQGLFPCVDELSDIHTRFLSQLLER
  RRQALCPGSTRNFVIHRLGDLLISQFSGPSAEQMCKTYSEFCSRHSKALKLYKELYARDKRFQQFIRKVTRPAVL
  KRHGVQECILLVTQRITKYPLLISRILQHSHGIEEERQDLTTALGLVKELLSNVDEGIYQLEKGARLQEIYNRMD
  PRAQTPVPGKGPFGREELLRRKLIHDGCLLWKTATGRFKDVLVLLMTDVLVFLQEKDQKYIFPTLDKPSVVSLQN
  LIVRDIANQEKGMFLISAAPPEMYEVHTASRDDRSTWIRVIQQSVRTCPSREDFPLIETEDEAYLRRIKMELQQK
  DRALVELLREKVGLFAEMTHFQAEEDGGSGMALPTLPRGLFRSESLESPRGERLLQDAIREVEGLKDLLVGPGVE
  LLLTPREPALPLEPDSGGNTSPGVTANGEARTFNGSIELCRADSDSSQRDRNGNQLRSPQEEALQRLVNLYGLLH
  GLQAAVAQQDTLMEARFPEGPERREKLCRANSRDGEAGRAGAAPVAPEKQATELALLQRQHALLQEELRRCRRLG
  EERATEAGSLEARLRESEQARALLEREAEEARRQLAALGQTEPLPAEAPWARRPVDPRRRSLPAGDALYLSFNPP
  QPSRGTDRLDLPVTTRSVHRNFEDRERQELGSPEERLQDSSDPDTGSEEEGSSRLSPPHSPRDFTRMQDIPEETE
  SRDGEAVASES

• Structural information:
  • Protein Domains: (235..43-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (472..57-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR037806  IPR035899  IPR000219  IPR002219  IPR011993   IPR041020  IPR001849  
  • Prosite: PS50010 PS50003 PS00479 PS50081
  • CDD: cd00029 cd13393 cd00160
  • PDB: 5EFX
  • PDBsum: 5EFX
  • STRING: ENSP00000354837
• Other Databases: GeneCards:  ARHGEF2  Malacards:  ARHGEF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000902	cell morphogenesis	IBA	biological process
GO:0007015	actin filament organization	IBA	biological process
GO:0008017	microtubule binding	IBA	molecular function
GO:0032587	ruffle membrane	IBA	cellular component
GO:0045666	positive regulation of neuron differentiation	IBA	biological process
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0005856	cytoskeleton	IBA	cellular component
GO:0035023	regulation of Rho protein signal transduction	IBA	biological process
GO:0045666	positive regulation of neuron differentiation	IDA	biological process
GO:0055059	asymmetric neuroblast division	IDA	biological process
GO:0071225	cellular response to muramyl dipeptide	IDA	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0051092	positive regulation of NF-kappaB transcription factor activity	IDA	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0032755	positive regulation of interleukin-6 production	IDA	biological process
GO:0032587	ruffle membrane	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0032760	positive regulation of tumor necrosis factor production	IDA	biological process
GO:0031982	vesicle	IDA	cellular component
GO:0005856	cytoskeleton	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:2001224	positive regulation of neuron migration	ISS	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:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0051301	cell division	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0045087	innate immune response	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
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:0071802	negative regulation of podosome assembly	IEA	biological process
GO:0055059	asymmetric neuroblast division	IEA	biological process
GO:0050768	negative regulation of neurogenesis	IEA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0008017	microtubule binding	IEA	molecular function
GO:0007015	actin filament organization	IEA	biological process
GO:0002102	podosome	IEA	cellular component
GO:0000902	cell morphogenesis	IEA	biological process
GO:0000132	establishment of mitotic spindle orientation	IEA	biological process
GO:0099092	postsynaptic density, intracellular component	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:2001224	positive regulation of neuron migration	IEA	biological process
GO:0043198	dendritic shaft	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0035023	regulation of Rho protein signal transduction	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0008134	transcription factor binding	ISS	molecular function
GO:0060546	negative regulation of necroptotic process	ISS	biological process
GO:0071356	cellular response to tumor necrosis factor	ISS	biological process
GO:0071474	cellular hyperosmotic response	ISS	biological process
GO:1902042	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	ISS	biological process
GO:1902219	negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress	ISS	biological process
GO:0032587	ruffle membrane	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0048365	Rac GTPase binding	IDA	molecular function
GO:0005874	microtubule	IDA	cellular component
GO:0030676	Rac guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0008017	microtubule binding	IDA	molecular function
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0017048	Rho GTPase binding	IDA	molecular function
GO:0005925	focal adhesion	HDA	cellular component
GO:0035023	regulation of Rho protein signal transduction	NAS	biological process
GO:0007026	negative regulation of microtubule depolymerization	IMP	biological process
GO:0042127	regulation of cell population proliferation	TAS	biological process
GO:0006886	intracellular protein transport	NAS	biological process
GO:0008270	zinc ion binding	NAS	molecular function
GO:0007015	actin filament organization	IMP	biological process
GO:0000902	cell morphogenesis	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis
hsa05130	Pathogenic Escherichia coli infection
hsa04530	Tight junction
hsa05418	Fluid shear stress and atherosclerosis

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)