• Gene id: 9815

Gene Summary

• Gene Symbol: GIT2   Gene   UCSC   Ensembl
• Aliases: CAT-2, CAT2, PKL
• Gene name: GIT ArfGAP 2
• Alternate names: ARF GTPase-activating protein GIT2, ARF GAP GIT2, G protein-coupled receptor kinase interacting ArfGAP 2, G protein-coupled receptor kinase-interactor 2, GRK-interacting protein 2, Paxillin kinase linker, cool-associated, tyrosine phosphorylated protein 2, cool-,
• Gene location: 12q24.11 (109996367: 109929791)     Exons: 22     NC_000012.12
• Gene summary(Entrez): This gene encodes a member of the GIT protein family, which interact with G protein-coupled receptor kinases and possess ADP-ribosylation factor (ARF) GTPase-activating protein (GAP) activity. GIT proteins traffic between cytoplasmic complexes, focal adhe
• OMIM: 608564

Protein Summary

• Protein general information: Q14161  
  • Name: ARF GTPase activating protein GIT2 (ARF GAP GIT2) (Cool interacting tyrosine phosphorylated protein 2) (CAT 2) (CAT2) (G protein coupled receptor kinase interactor 2) (GRK interacting protein 2)
  • Length: 759  
  • Mass: 84543
• Sequence:

  MSKRLRSSEVCADCSGPDPSWASVNRGTFLCDECCSVHRSLGRHISQVRHLKHTPWPPTLLQMVETLYNNGANSI
  WEHSLLDPASIMSGRRKANPQDKVHPNKAEFIRAKYQMLAFVHRLPCRDDDSVTAKDLSKQLHSSVRTGNLETCL
  RLLSLGAQANFFHPEKGNTPLHVASKAGQILQAELLAVYGADPGTQDSSGKTPVDYARQGGHHELAERLVEIQYE
  LTDRLAFYLCGRKPDHKNGQHFIIPQMADSSLDLSELAKAAKKKLQSLSNHLFEELAMDVYDEVDRRETDAVWLA
  TQNHSALVTETTVVPFLPVNPEYSSTRNQGRQKLARFNAHEFATLVIDILSDAKRRQQGSSLSGSKDNVELILKT
  INNQHSVESQDNDQPDYDSVASDEDTDLETTASKTNRQKSLDSDLSDGPVTVQEFMEVKNALVASEAKIQQLMKV
  NNNLSDELRIMQKKLQTLQSENSNLRKQATTNVYQVQTGSEYTDTSNHSSLKRRPSARGSRPMSMYETGSGQKPY
  LPMGEASRPEESRMRLQPFPAHIGRSALVTSSSSLPSFPSTLSWSRDESARRASRLEKQNSTPESDYDNTPNDME
  PDGMGSSRKGRQRSMVWPGDGLVPDTAEPHVAPSPTLPSTEDVIRKTEQITKNIQELLRAAQENKHDSYIPCSER
  IHVAVTEMAALFPKKPKSDMVRTSLRLLTSSAYRLQSECKKTLPGDPGSPTDVQLVTQQVIQCAYDIAKAAKQLV
  TITTKENNN

• Structural information:
  • Protein Domains: (1..12-)
    (/note="Arf-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00288"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR037278  IPR001164   IPR038508  IPR032352  IPR022018  IPR013724  
  • Prosite: PS50297 PS50088 PS50115
  • STRING: ENSP00000347464
• Other Databases: GeneCards:  GIT2  Malacards:  GIT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0008277	regulation of G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005925	focal adhesion	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa05135	Yersinia infection

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			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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq