• Gene id: 23370

Gene Summary

• Gene Symbol: ARHGEF18   Gene   UCSC   Ensembl
• Aliases: P114-RhoGEF, RP78, SA-RhoGEF, p114RhoGEF
• Gene name: Rho/Rac guanine nucleotide exchange factor 18
• Alternate names: rho guanine nucleotide exchange factor 18, 114 kDa Rho-specific guanine nucleotide exchange factor, Rho-specific guanine nucleotide exchange factor p114, Rho/Rac guanine nucleotide exchange factor (GEF) 18, septin-associated RhoGEF,
• Gene location: 19p13.2 (7348900: 7476989)     Exons: 35     NC_000019.10
• Gene summary(Entrez): Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of
• OMIM: 607536

Protein Summary

• Protein general information: Q6ZSZ5  
  • Name: Rho guanine nucleotide exchange factor 18 (114 kDa Rho specific guanine nucleotide exchange factor) (p114 Rho GEF) (p114RhoGEF) (Septin associated RhoGEF) (SA RhoGEF)
  • Length: 1361  
  • Mass: 151642
  • Tissue specificity: Expressed in all tissues tested with highest expression in kidney and pancreas. Weakly or not expressed in liver, skeletal muscle and testis. Isoform 1
• Sequence:

  MGDDQEDDFPRRLSESMEDLSLDLGALQGSEYLQDLGLGAPSHSQPGETPDSRPTGEEPGRDSLFSSLAGSQDLS
  RRRSWERSRSCSESWRRLSLDASAVDEEPCLPRTLASLALNLPGGGLKTWTQGCLSGGGTPAESPGKECDSPKKR
  GRSRSVPVSFYEIRSPEISPGLEVPTPPVQGLEPPVLECMEKDHVEPDHVLIVQQVLQELRQYHGARQRACMSAS
  PGGAHSNLTWFEFLSESEDGAGKNEKSDKSTSVKRRLSCLRSRVTRQKEKGKSPAHLKDKGQDARERRECVNGHQ
  LLQGTFSGPSSCPLCGKPFLSSASLKEHPRGTLLSDGSPALSRNVGMTVSQKGGPQPTPSPAGPGTQLGPITGEM
  DEADSAFLKFKQTADDSLSLTSPNTESIFVEDPYTASLRSEIESDGHEFEAESWSLAVDAAYAKKQKREVVKRQD
  VLYELMQTEVHHVRTLKIMLKVYSRALQEELQFSSKAIGRLFPCADDLLETHSHFLARLKERRQESLEEGSDRNY
  VIQKIGDLLVQQFSGENGERMKEKYGVFCSGHNEAVSHYKLLLQQNKKFQNLIKKIGNFSIVRRLGVQECILLVT
  QRITKYPVLVERIIQNTEAGTEDYEDLTQALNLIKDIISQVDAKVSECEKGQRLREIAGKMDLKSSSKLKNGLTF
  RKEDMLQRQLHLEGMLCWKTTSGRLKDILAILLTDVLLLLQEKDQKYVFASVDSKPPVISLQKLIVREVANEEKA
  MFLISASLQGPEMYEIYTSSKEDRNAWMAHIQRAVESCPDEEEGPFSLPEEERKVVEARATRLRDFQERLSMKDQ
  LIAQSLLEKQQIYLEMAEMGGLEDLPQPRGLFRGGDPSETLQGELILKSAMSEIEGIQSLICRQLGSANGQAEDG
  GSSTGPPRRAETFAGYDCTNSPTKNGSFKKKVSSTDPRPRDWRGPPNSPDLKLSDSDIPGSSEESPQVVEAPGTE
  SDPRLPTVLESELVQRIQTLSQLLLNLQAVIAHQDSYVETQRAAIQEREKQFRLQSTRGNLLLEQERQRNFEKQR
  EERAALEKLQSQLRHEQQRWERERQWQHQELERAGARLQEREGEARQLRERLEQERAELERQRQAYQHDLERLRE
  AQRAVERERERLELLRRLKKQNTAPGALPPDTLAEAQPPSHPPSFNGEGLEGPRVSMLPSGVGPEYAERPEVARR
  DSAPTENRLAKSDVPIQLLSATNQFQRQAAVQQQIPTKLAASTKGGKDKGGKSRGSQRWESSASFDLKQQLLLNK
  LMGKDESTSRNRRSLSPILPGRHSPAPPPDPGFPAPSPPPADSPSEGFSLKAGGTALLPGPPAPSPLPATPLSAK
  EDASKEDVIFF

• Structural information:
  • Protein Domains: (447..64-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (684..78-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR037744  IPR035899  IPR000219  IPR011993  IPR041020   IPR001849  IPR013087  
  • Prosite: PS50010 PS50003 PS50157
  • CDD: cd15794 cd00160
  • STRING: ENSP00000352995
• Other Databases: GeneCards:  ARHGEF18  Malacards:  ARHGEF18

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0051497	negative regulation of stress fiber assembly	IMP	biological process
GO:0150105	protein localization to cell-cell junction	IMP	biological process
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0035023	regulation of Rho protein signal transduction	IBA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0045177	apical part of cell	IDA	cellular component
GO:0030036	actin cytoskeleton organization	IDA	biological process
GO:0008360	regulation of cell shape	IDA	biological process
GO:0007264	small GTPase mediated signal transduction	IDA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0007179	transforming growth factor beta receptor signaling pathway	TAS	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:0030054	cell junction	TAS	cellular component
GO:0030054	cell junction	TAS	cellular component
GO:0030054	cell junction	TAS	cellular component
GO:0030054	cell junction	TAS	cellular component
GO:0030054	cell junction	TAS	cellular component
GO:0030054	cell junction	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04530	Tight junction

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq