• Gene id: 93663

Gene Summary

• Gene Symbol: ARHGAP18   Gene   UCSC   Ensembl
• Aliases: MacGAP, SENEX, bA307O14.2
• Gene name: Rho GTPase activating protein 18
• Alternate names: rho GTPase-activating protein 18, rho-type GTPase-activating protein 18,
• Gene location: 6q22.33 (129710224: 129576131)     Exons: 16     NC_000006.12
• Gene summary(Entrez): ARHGAP18 belongs to a family of Rho (see MIM 165390) GTPase-activating proteins that modulate cell signaling (Potkin et al., 2009 [PubMed 19065146]).[supplied by OMIM, Apr 2010]
• OMIM: 613351

Protein Summary

• Protein general information: Q8N392  
  • Name: Rho GTPase activating protein 18 (MacGAP) (Rho type GTPase activating protein 18)
  • Length: 663  
  • Mass: 74977
• Sequence:

  MSWLSSSQGVVLTAYHPSGKDQTVGNSHAKAGEEATSSRRYGQYTMNQESTTIKVMEKPPFDRSISQDSLDELSM
  EDYWIELENIKKSSENSQEDQEVVVVKEPDEGELEEEWLKEAGLSNLFGESAGDPQESIVFLSTLTRTQAAAVQK
  RVETVSQTLRKKNKQYQIPDVRDIFAQQRESKETAPGGTESQSLRTNENKYQGRDDEASNLVGEEKLIPPEETPA
  PETDINLEVSFAEQALNQKESSKEKIQKSKGDDATLPSFRLPKDKTGTTRIGDLAPQDMKKVCHLALIELTALYD
  VLGIELKQQKAVKIKTKDSGLFCVPLTALLEQDQRKVPGMRIPLIFQKLISRIEERGLETEGLLRIPGAAIRIKN
  LCQELEAKFYEGTFNWESVKQHDAASLLKLFIRELPQPLLSVEYLKAFQAVQNLPTKKQQLQALNLLVILLPDAN
  RDTLKALLEFLQRVIDNKEKNKMTVMNVAMVMAPNLFMCHALGLKSSEQREFVMAAGTANTMHLLIKYQKLLWTI
  PKFIVNQVRKQNTENHKKDKRAMKKLLKKMAYDREKYEKQDKSTNDADVPQGVIRVQAPHLSKVSMAIQLTEELK
  ASDVLARFLSQESGVAQTLKKGEVFLYEIGGNIGERCLDDDTYMKDLYQLNPNAEWVIKSKPL

• Structural information:
  • Protein Domains: (324..52-)
    (/note="Rho-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00172"-)
  • Interpro: IPR008936  IPR000198  
  • Prosite: PS50238
  • STRING: ENSP00000357131
• Other Databases: GeneCards:  ARHGAP18  Malacards:  ARHGAP18

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001726	ruffle	IDA	cellular component
GO:0005881	cytoplasmic microtubule	IDA	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	IBA	biological process
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0030833	regulation of actin filament polymerization	IBA	biological process
GO:0032956	regulation of actin cytoskeleton organization	IBA	biological process
GO:2000145	regulation of cell motility	IMP	biological process
GO:0008360	regulation of cell shape	IMP	biological process
GO:0051056	regulation of small GTPase mediated signal transduction	IMP	biological process
GO:0030833	regulation of actin filament polymerization	IMP	biological process
GO:0005737	cytoplasm	IMP	cellular component
GO:0032956	regulation of actin cytoskeleton organization	IMP	biological process
GO:0007264	small GTPase mediated signal transduction	IMP	biological process
GO:0005096	GTPase activator activity	IMP	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process

Diseases

Associated diseases	References
Schizophrenia	PMID:19065146
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)