• Gene id: 394

Gene Summary

• Gene Symbol: ARHGAP5   Gene   UCSC   Ensembl
• Aliases: GFI2, RhoGAP5, p190-B, p190BRhoGAP
• Gene name: Rho GTPase activating protein 5
• Alternate names: rho GTPase-activating protein 5, growth factor independent 2, p100 RasGAP-associated p105 protein, p105 RhoGAP, rho-type GTPase-activating protein 5,
• Gene location: 14q12 (32072587: 32159727)     Exons: 9     NC_000014.9
• Gene summary(Entrez): Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different isoforms have been found for this gene. [provided by R
• OMIM: 602680

SNPs

rs200847762

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.32129371G>A
NC_000006.11   g.32097148G>A
NG_033940.1   g.3870C>T
NT_113891.3   g.3567702G>A
NT_113891.2   g.3567808G>A
NT_167247.2   g.3471391G>A
NT_167247.1   g.3476976G>A
NT_167245.2   g.3370735G>A
NT_167245.1   g.3376320G>A
NM_022110.4   c.410C>T
NM_  

Protein Summary

• Protein general information: Q13017  
  • Name: Rho GTPase activating protein 5 (Rho type GTPase activating protein 5) (p190 B)
  • Length: 1502  
  • Mass: 172460
  • Tissue specificity: Detected in skin fibroblasts (at protein level) (PubMed
• Sequence:

  MMAKNKEPRPPSYTISIVGLSGTEKDKGNCGVGKSCLCNRFVRSKADEYYPEHTSVLSTIDFGGRVVNNDHFLYW
  GDIIQNSEDGVECKIHVIEQTEFIDDQTFLPHRSTNLQPYIKRAAASKLQSAEKLMYICTDQLGLEQDFEQKQMP
  EGKLNVDGFLLCIDVSQGCNRKFDDQLKFVNNLFVQLSKSKKPVIIAATKCDECVDHYLREVQAFASNKKNLLVV
  ETSARFNVNIETCFTALVQMLDKTRSKPKIIPYLDAYKTQRQLVVTATDKFEKLVQTVRDYHATWKTVSNKLKNH
  PDYEEYINLEGTRKARNTFSKHIEQLKQEHIRKRREEYINTLPRAFNTLLPNLEEIEHLNWSEALKLMEKRADFQ
  LCFVVLEKTPWDETDHIDKINDRRIPFDLLSTLEAEKVYQNHVQHLISEKRRVEMKEKFKKTLEKIQFISPGQPW
  EEVMCFVMEDEAYKYITEADSKEVYGRHQREIVEKAKEEFQEMLFEHSELFYDLDLNATPSSDKMSEIHTVLSEE
  PRYKALQKLAPDRESLLLKHIGFVYHPTKETCLSGQNCTDIKVEQLLASSLLQLDHGRLRLYHDSTNIDKVNLFI
  LGKDGLAQELANEIRTQSTDDEYALDGKIYELDLRPVDAKSPYFLSQLWTAAFKPHGCFCVFNSIESLSFIGEFI
  GKIRTEASQIRKDKYMANLPFTLILANQRDSISKNLPILRHQGQQLANKLQCPFVDVPAGTYPRKFNETQIKQAL
  RGVLESVKHNLDVVSPIPANKDLSEADLRIVMCAMCGDPFSVDLILSPFLDSHSCSAAQAGQNNSLMLDKIIGEK
  RRRIQITILSYHSSIGVRKDELVHGYILVYSAKRKASMGMLRAFLSEVQDTIPVQLVAVTDSQADFFENEAIKEL
  MTEGEHIATEITAKFTALYSLSQYHRQTEVFTLFFSDVLEKKNMIENSYLSDNTRESTHQSEDVFLPSPRDCFPY
  NNYPDSDDDTEAPPPYSPIGDDVQLLPTPSDRSRYRLDLEGNEYPIHSTPNCHDHERNHKVPPPIKPKPVVPKTN
  VKKLDPNLLKTIEAGIGKNPRKQTSRVPLAHPEDMDPSDNYAEPIDTIFKQKGYSDEIYVVPDDSQNRIKIRNSF
  VNNTQGDEENGFSDRTSKSHGERRPSKYKYKSKTLFSKAKSYYRRTHSDASDDEAFTTSKTKRKGRHRGSEEDPL
  LSPVETWKGGIDNPAITSDQELDDKKMKKKTHKVKEDKKQKKKTKNFNPPTRRNWESNYFGMPLQDLVTAEKPIP
  LFVEKCVEFIEDTGLCTEGLYRVSGNKTDQDNIQKQFDQDHNINLVSMEVTVNAVAGALKAFFADLPDPLIPYSL
  HPELLEAAKIPDKTERLHALKEIVKKFHPVNYDVFRYVITHLNRVSQQHKINLMTADNLSICFWPTLMRPDFENR
  EFLSTTKIHQSVVETFIQQCQFFFYNGEIVETTNIVAPPPPSNPGQLVEPMVPLQLPPPLQPQLIQPQLQTDPLG
  II

• Structural information:
  • Protein Domains: (267..32-)
    (/note="FF-1)
    (366..42-)
    (/note="FF-2)
    (427..48-)
    (/note="FF-3)
    (482..54-)
    (/note="FF-4)
    (590..76-)
    (/note="pG1-pseudoGTPase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01199-)
    (779..94-)
    (/note="pG2-pse)
  • Interpro: IPR002713  IPR036517  IPR027417  IPR039007  IPR008936   IPR032835  IPR000198  IPR039006  IPR001806  
  • Prosite: PS51676 PS51852 PS51853 PS50238
  • PDB: 2EE4 2EE5 5U4V
  • PDBsum: 2EE4 2EE5 5U4V
  • STRING: ENSP00000371897
• Other Databases: GeneCards:  ARHGAP5  Malacards:  ARHGAP5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0042169	SH2 domain binding	IBA	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005096	GTPase activator activity	TAS	molecular function
GO:0003924	GTPase activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0007266	Rho protein signal transduction	TAS	biological process
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:0030879	mammary gland development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	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:0042169	SH2 domain binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04510	Focal adhesion
hsa04670	Leukocyte transendothelial migration

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
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