• Gene id: 9749

Gene Summary

• Gene Symbol: PHACTR2   Gene   UCSC   Ensembl
• Aliases: C6orf56
• Gene name: phosphatase and actin regulator 2
• Alternate names: phosphatase and actin regulator 2,
• Gene location: 6q24.2 (143608179: 143831184)     Exons: 14     NC_000006.12
• OMIM: 611448

Protein Summary

• Protein general information: O75167  
  • Name: Phosphatase and actin regulator 2
  • Length: 634  
  • Mass: 69700
• Sequence:

  MDNAVDGLDKASIANSDGPTAGSQTPPFKRKGKLSTIGKIFKPWKWRKKKTSDKFRETSAVLERKISTRQSREEL
  IRRGVLKELPDQDGDVTVNFENSNGHMIPIGEESTREENVVKSEEGNGSVSEKTPPLEEQAEDKKENTENHSETP
  AAPALPPSAPPKPRPKPKPKKSPVPPKGATAGASHKGDEVPPIKKNTKAPGKQAPVPPPKPASRNTTREAAGSSH
  SKKTTGSKASASPSTSSTSSRPKASKETVSSKAGTVGTTKGKRKTDKQPITSHLSSDTTTSGTSDLKGEPAETRV
  ESFKLEQTVPGAEEQNTGKFKSMVPPPPVAPAPSPLAPPLPLEDQCITASDTPVVLVSVGADLPVSALDPSQLLW
  AEEPTNRTTLYSGTGLSVNRENAKCFTTKEELGKTVPQLLTPGLMGESSESFSASEDEGHREYQANDSDSDGPIL
  YTDDEDEDEDEDGSGESALASKIRRRDTLAIKLGNRPSKKELEDKNILQRTSEEERQEIRQQIGTKLVRRLSQRP
  TTEELEQRNILKQKNEEEEQEAKMELKRRLSRKLSLRPTVAELQARRILRFNEYVEVTDSPDYDRRADKPWARLT
  PADKAAIRKELNEFKSTEMEVHEESRQFTRFHRP

• Structural information:
  • Interpro: IPR029991  IPR004018  
  • Prosite: PS51073
  • STRING: ENSP00000417038
• Other Databases: GeneCards:  PHACTR2  Malacards:  PHACTR2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003779	actin binding	IBA	molecular function
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0004864	protein phosphatase inhibitor activity	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0002576	platelet degranulation	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0031092	platelet alpha granule membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0032515	negative regulation of phosphoprotein phosphatase activity	IEA	biological process

Diseases

Associated diseases	References
Alzheimer's disease	PMID:20590401
Parkinson's disease	PMID:19429005
Multiple sclerosis	PMID:20546594
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