• Gene id: 23779

Gene Summary

• Gene Symbol: ARHGAP8   Gene   UCSC   Ensembl
• Aliases: BPGAP1, PP610
• Gene name: Rho GTPase activating protein 8
• Alternate names: rho GTPase-activating protein 8, BCH domain-containing Cdc42GAP-like protein, BNIP-2 and Cdc42GAP homology domain-containing, proline-rich and Cdc42GAP-like protein subtype-1, rho-type GTPase-activating protein 8,
• Gene location: 22q13.31 (44752557: 44862783)     Exons: 13     NC_000022.11
• Gene summary(Entrez): This gene encodes a member of the RHOGAP family. GAP (GTPase-activating) family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. GAP proteins alternate between an active (GTP-bound) and inactive (GD
• OMIM: 609405

Protein Summary

• Protein general information: P85298  
  • Name: Rho GTPase activating protein 8 (Rho type GTPase activating protein 8)
  • Length: 464  
  • Mass: 53484
  • Tissue specificity: Highly expressed in kidney and placenta. Also expressed in colon, skeletal muscle, small intestine, stomach, and testis. Not detected in brain, liver or spleen. Overexpressed in the majority of colorectal tumors examined. {ECO
• Sequence:

  MAGQDPALSTSHPFYDVARHGILQVAGDDRFGRRVVTFSCCRMPPSHELDHQRLLEYLKYTLDQYVENDYTIVYF
  HYGLNSRNKPSLGWLQSAYKEFDRKDGDLTMWPRLVSNSKLKRSSHLSLPKYWDYRYKKNLKALYVVHPTSFIKV
  LWNILKPLISHKFGKKVIYFNYLSELHEHLKYDQLVIPPEVLRYDEKLQSLHEGRTPPPTKTPPPRPPLPTQQFG
  VSLQYLKDKNQGELIPPVLRFTVTYLREKGLRTEGLFRRSASVQTVREIQRLYNQGKPVNFDDYGDIHIPAVILK
  TFLRELPQPLLTFQAYEQILGITCVESSLRVTGCRQILRSLPEHNYVVLRYLMGFLHAVSRESIFNKMNSSNLAC
  VFGLNLIWPSQGVSSLSALVPLNMFTELLIEYYEKIFSTPEAPGEHGLAPWEQGSRAAPLQEAVPRTQATGLTKP
  TLPPSPLMAARRRL

• Structural information:
  • Protein Domains: (13..19-)
    (/note="CRAL-TRIO-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00056-)
    (226..41-)
    (/note="Rho-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00172"-)
  • Interpro: IPR001251  IPR036865  IPR008936  IPR000198  
  • Prosite: PS50191 PS50238
  • CDD: cd00170
  • STRING: ENSP00000429240
• Other Databases: GeneCards:  ARHGAP8  Malacards:  ARHGAP8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007165	signal transduction	IEA	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IDA	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
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