• Gene id: 83478

Gene Summary

• Gene Symbol: ARHGAP24   Gene   UCSC   Ensembl
• Aliases: FILGAP, RC-GAP72, RCGAP72, p73, p73RhoGAP
• Gene name: Rho GTPase activating protein 24
• Alternate names: rho GTPase-activating protein 24, RAC1- and CDC42-specific GTPase-activating protein of 72 kDa, filamin-A-associated RhoGAP, rhoGAP of 73 kDa, sarcoma antigen NY-SAR-88,
• Gene location: 4q21.23-q21.3 (159945660: 159927040)     Exons: 22     NC_000001.11
• Gene summary(Entrez): This gene encodes a Rho-GTPase activating protein, which is specific for the small GTPase family member Rac. Binding of the encoded protein by filamin A targets it to sites of membrane protrusion, where it antognizes Rac. This results in suppression of la
• OMIM: 610586

Protein Summary

• Protein general information: Q8N264  
  • Name: Rho GTPase activating protein 24 (Filamin A associated RhoGAP) (FilGAP) (RAC1 and CDC42 specific GTPase activating protein of 72 kDa) (RC GAP72) (Rho type GTPase activating protein 24) (RhoGAP of 73 kDa) (Sarcoma antigen NY SAR 88) (p73RhoGAP)
  • Length: 748  
  • Mass: 84258
  • Tissue specificity: Isoform 1 is widely expressed with a higher level in kidney. Isoform 2 is mainly expressed in endothelial cells. {ECO
• Sequence:

  MEENNDSTENPQQGQGRQNAIKCGWLRKQGGFVKTWHTRWFVLKGDQLYYFKDEDETKPLGTIFLPGNKVSEHPC
  NEENPGKFLFEVVPGGDRDRMTANHESYLLMASTQNDMEDWVKSIRRVIWGPFGGGIFGQKLEDTVRYEKRYGNR
  LAPMLVEQCVDFIRQRGLKEEGLFRLPGQANLVKELQDAFDCGEKPSFDSNTDVHTVASLLKLYLRELPEPVIPY
  AKYEDFLSCAKLLSKEEEAGVKELAKQVKSLPVVNYNLLKYICRFLDEVQSYSGVNKMSVQNLATVFGPNILRPK
  VEDPLTIMEGTVVVQQLMSVMISKHDCLFPKDAELQSKPQDGVSNNNEIQKKATMGQLQNKENNNTKDSPSRQCS
  WDKSESPQRSSMNNGSPTALSGSKTNSPKNSVHKLDVSRSPPLMVKKNPAFNKGSGIVTNGSFSSSNAEGLEKTQ
  TTPNGSLQARRSSSLKVSGTKMGTHSVQNGTVRMGILNSDTLGNPTNVRNMSWLPNGYVTLRDNKQKEQAGELGQ
  HNRLSTYDNVHQQFSMMNLDDKQSIDSATWSTSSCEISLPENSNSCRSSTTTCPEQDFFGGNFEDPVLDGPPQDD
  LSHPRDYESKSDHRSVGGRSSRATSSSDNSETFVGNSSSNHSALHSLVSSLKQEMTKQKIEYESRIKSLEQRNLT
  LETEMMSLHDELDQERKKFTMIEIKMRNAERAKEDAEKRNDMLQKEMEQFFSTFGELTVEPRRTERGNTIWIQ

• Structural information:
  • Protein Domains: (19..12-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (135..32-)
    (/note="Rho-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00172"-)
  • Interpro: IPR011993  IPR001849  IPR008936  IPR000198  
  • Prosite: PS50003 PS50238
  • DIP: 35520
  • STRING: ENSP00000378611
• Other Databases: GeneCards:  ARHGAP24  Malacards:  ARHGAP24

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090630	activation of GTPase activity	IBA	biological process
GO:0035313	wound healing, spreading of epidermal cells	IBA	biological process
GO:0035021	negative regulation of Rac protein signal transduction	IBA	biological process
GO:1900028	negative regulation of ruffle assembly	IBA	biological process
GO:0005925	focal adhesion	IBA	cellular component
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0001525	angiogenesis	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0007275	multicellular organism development	IEA	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:0005515	protein binding	IPI	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq