• Gene id: 9912

Gene Summary

• Gene Symbol: ARHGAP44   Gene   UCSC   Ensembl
• Aliases: NPC-A-10, RICH2
• Gene name: Rho GTPase activating protein 44
• Alternate names: rho GTPase-activating protein 44, Rho-type GTPase-activating protein RICH2, RhoGAP interacting with CIP4 homologs protein 2, rho GTPase-activating protein RICH2,
• Gene location: 17p12 (12789497: 12991643)     Exons: 22     NC_000017.11
• OMIM: 604059

Protein Summary

• Protein general information: Q17R89  
  • Name: Rho GTPase activating protein 44 (NPC A 10) (Rho type GTPase activating protein RICH2) (RhoGAP interacting with CIP4 homologs protein 2) (RICH 2)
  • Length: 818  
  • Mass: 89247
  • Tissue specificity: Highly expressed in brain. Expressed at weak level in other tissues. {ECO
• Sequence:

  MKKQFNRMRQLANQTVGRAEKTEVLSEDLLQVEKRLELVKQVSHSTHKKLTACLQGQQGAEADKRSKKLPLTTLA
  QCLMEGSAILGDDTLLGKMLKLCGETEDKLAQELIHFELQVERDVIEPLFLLAEVEIPNIQKQRKHLAKLVLDMD
  SSRTRWQQTSKSSGLSSSLQPAGAKADALREEMEEAANRVEICRDQLSADMYSFVAKEIDYANYFQTLIEVQAEY
  HRKSLTLLQAVLPQIKAQQEAWVEKPSFGKPLEEHLTISGREIAFPIEACVTMLLECGMQEEGLFRVAPSASKLK
  KLKAALDCCVVDVQEYSADPHAIAGALKSYLRELPEPLMTFELYDEWIQASNVQEQDKKLQALWNACEKLPKANH
  NNIRYLIKFLSKLSEYQDVNKMTPSNMAIVLGPNLLWPQAEGNITEMMTTVSLQIVGIIEPIIQHADWFFPGEIE
  FNITGNYGSPVHVNHNANYSSMPSPDMDPADRRQPEQARRPLSVATDNMMLEFYKKDGLRKIQSMGVRVMDTNWV
  ARRGSSAGRKVSCAPPSMQPPAPPAELAAPLPSPLPEQPLDSPAAPALSPSGLGLQPGPERTSTTKSKELSPGSA
  QKGSPGSSQGTACAGTQPGAQPGAQPGASPSPSQPPADQSPHTLRKVSKKLAPIPPKVPFGQPGAMADQSAGQPS
  PVSLSPTPPSTPSPYGLSYPQGYSLASGQLSPAAAPPLASPSVFTSTLSKSRPTPKPRQRPTLPPPQPPTVNLSA
  SSPQSTEAPMLDGMSPGESMSTDLVHFDIPSIHIELGSTLRLSPLEHMRRHSVTDKRDSEEESESTAL

• Structural information:
  • Protein Domains: (14..24-)
    (/note="BAR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00361-)
    (255..44-)
    (/note="Rho-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00172"-)
  • Interpro: IPR027267  IPR004148  IPR008936  IPR000198  
  • Prosite: PS51021 PS50238
  • STRING: ENSP00000368994
• Other Databases: GeneCards:  ARHGAP44  Malacards:  ARHGAP44

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0014069	postsynaptic density	IBA	cellular component
GO:0032956	regulation of actin cytoskeleton organization	IBA	biological process
GO:0035020	regulation of Rac protein signal transduction	IBA	biological process
GO:0043197	dendritic spine	IBA	cellular component
GO:0048365	Rac GTPase binding	IBA	molecular function
GO:0048786	presynaptic active zone	IBA	cellular component
GO:0061001	regulation of dendritic spine morphogenesis	IBA	biological process
GO:0098886	modification of dendritic spine	IBA	biological process
GO:0098887	neurotransmitter receptor transport, endosome to postsynaptic membrane	IBA	biological process
GO:0031256	leading edge membrane	IBA	cellular component
GO:0035021	negative regulation of Rac protein signal transduction	IBA	biological process
GO:0030425	dendrite	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005096	GTPase activator activity	ISS	molecular function
GO:0051490	negative regulation of filopodium assembly	ISS	biological process
GO:0043087	regulation of GTPase activity	ISS	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0006887	exocytosis	IEA	biological process
GO:0005543	phospholipid binding	IDA	molecular function
GO:0031256	leading edge membrane	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0099152	regulation of neurotransmitter receptor transport, endosome to postsynaptic membrane	IEA	biological process
GO:0099010	modification of postsynaptic structure	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0035021	negative regulation of Rac protein signal transduction	IEA	biological process
GO:0098887	neurotransmitter receptor transport, endosome to postsynaptic membrane	IEA	biological process
GO:0098886	modification of dendritic spine	IEA	biological process
GO:0061001	regulation of dendritic spine morphogenesis	IEA	biological process
GO:0048365	Rac GTPase binding	IEA	molecular function
GO:0043197	dendritic spine	IEA	cellular component
GO:0043087	regulation of GTPase activity	IEA	biological process
GO:0032956	regulation of actin cytoskeleton organization	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0030425	dendrite	IEA	cellular component
GO:0055037	recycling endosome	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0098793	presynapse	IEA	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
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq