• Gene id: 80243

Gene Summary

• Gene Symbol: PREX2   Gene   UCSC   Ensembl
• Aliases: DEP.2, DEPDC2, P-REX2, PPP1R129
• Gene name: phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2
• Alternate names: phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein, DEP domain-containing protein 2, PtdIns(3,4,5)-dependent Rac exchanger 2, protein phosphatase 1, regulatory subunit 129,
• Gene location: 8q13.2 (101098158: 101181846)     Exons: 25     NC_000023.11
• Gene summary(Entrez): The protein encoded by this gene belongs to the phosphatidylinositol 3,4,5-trisphosphate (PIP3)-dependent Rac exchanger (PREX) family, which are Dbl-type guanine-nucleotide exchange factors for Rac family small G proteins. Structural domains of this prote
• OMIM: 612139

Protein Summary

• Protein general information: Q70Z35  
  • Name: Phosphatidylinositol 3,4,5 trisphosphate dependent Rac exchanger 2 protein (P Rex2) (PtdIns(3,4,5) dependent Rac exchanger 2) (DEP domain containing protein 2)
  • Length: 1606  
  • Mass: 182622
  • Tissue specificity: Isoform 1 is highly expressed in skeletal muscle, heart and placenta, absent from peripheral blood leukocytes. Isoform 2 is expressed in skeletal muscle, kidney, small intestine, and placenta. Isoform 3 is expressed in the heart. {ECO
• Sequence:

  MSEDSRGDSRAESAKDLEKQLRLRVCVLSELQKTERDYVGTLEFLVSAFLHRMNQCAASKVDKNVTEETVKMLFS
  NIEDILAVHKEFLKVVEECLHPEPNAQQEVGTCFLHFKDKFRIYDEYCSNHEKAQKLLLELNKIRTIRTFLLNCM
  LLGGRKNTDVPLEGYLVTPIQRICKYPLILKELLKRTPRKHSDYAAVMEALQAMKAVCSNINEAKRQMEKLEVLE
  EWQSHIEGWEGSNITDTCTEMLMCGVLLKISSGNIQERVFFLFDNLLVYCKRKHRRLKNSKASTDGHRYLFRGRI
  NTEVMEVENVDDGTADFHSSGHIVVNGWKIHNTAKNKWFVCMAKTPEEKHEWFEAILKERERRKGLKLGMEQDTW
  VMISEQGEKLYKMMCRQGNLIKDRKRKLTTFPKCFLGSEFVSWLLEIGEIHRPEEGVHLGQALLENGIIHHVTDK
  HQFKPEQMLYRFRYDDGTFYPRNEMQDVISKGVRLYCRLHSLFTPVIRDKDYHLRTYKSVVMANKLIDWLIAQGD
  CRTREEAMIFGVGLCDNGFMHHVLEKSEFKDEPLLFRFFSDEEMEGSNMKHRLMKHDLKVVENVIAKSLLIKSNE
  GSYGFGLEDKNKVPIIKLVEKGSNAEMAGMEVGKKIFAINGDLVFMRPFNEVDCFLKSCLNSRKPLRVLVSTKPR
  ETVKIPDSADGLGFQIRGFGPSVVHAVGRGTVAAAAGLHPGQCIIKVNGINVSKETHASVIAHVTACRKYRRPTK
  QDSIQWVYNSIESAQEDLQKSHSKPPGDEAGDAFDCKVEEVIDKFNTMAIIDGKKEHVSLTVDNVHLEYGVVYEY
  DSTAGIKCNVVEKMIEPKGFFSLTAKILEALAKSDEHFVQNCTSLNSLNEVIPTDLQSKFSALCSERIEHLCQRI
  SSYKKFSRVLKNRAWPTFKQAKSKISPLHSSDFCPTNCHVNVMEVSYPKTSTSLGSAFGVQLDSRKHNSHDKENK
  SSEQGKLSPMVYIQHTITTMAAPSGLSLGQQDGHGLRYLLKEEDLETQDIYQKLLGKLQTALKEVEMCVCQIDDL
  LSSITYSPKLERKTSEGIIPTDSDNEKGERNSKRVCFNVAGDEQEDSGHDTISNRDSYSDCNSNRNSIASFTSIC
  SSQCSSYFHSDEMDSGDELPLSVRISHDKQDKIHSCLEHLFSQVDSITNLLKGQAVVRAFDQTKYLTPGRGLQEF
  QQEMEPKLSCPKRLRLHIKQDPWNLPSSVRTLAQNIRKFVEEVKCRLLLALLEYSDSETQLRRDMVFCQTLVATV
  CAFSEQLMAALNQMFDNSKENEMETWEASRRWLDQIANAGVLFHFQSLLSPNLTDEQAMLEDTLVALFDLEKVSF
  YFKPSEEEPLVANVPLTYQAEGSRQALKVYFYIDSYHFEQLPQRLKNGGGFKIHPVLFAQALESMEGYYYRDNVS
  VEEFQAQINAASLEKVKQYNQKLRAFYLDKSNSPPNSTSKAAYVDKLMRPLNALDELYRLVASFIRSKRTAACAN
  TACSASGVGLLSVSSELCNRLGACHIIMCSSGVHRCTLSVTLEQAIILARSHGLPPRYIMQATDVMRKQGARVQN
  TAKNLGVRDRTPQSAPRLYKLCEPPPPAGEE

• Structural information:
  • Protein Domains: (23..21-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (245..36-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (390..46-)
    (/note="DEP-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00066-)
    (491-)
  • Interpro: IPR035899  IPR000591  IPR000219  IPR001331  IPR001478   IPR036034  IPR011993  IPR001849  IPR037367  IPR036388  IPR036390  
  • Prosite: PS50186 PS00741 PS50010 PS50106 PS50003
  • CDD: cd04439 cd00160
  • PDB: 6BNM
  • PDBsum: 6BNM
  • STRING: ENSP00000288368
• Other Databases: GeneCards:  PREX2  Malacards:  PREX2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030676	Rac guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IBA	biological process
GO:0030676	Rac guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0030676	Rac guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IDA	biological process
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0048813	dendrite morphogenesis	IEA	biological process
GO:0014065	phosphatidylinositol 3-kinase signaling	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
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