• Gene id: 9693

Gene Summary

• Gene Symbol: RAPGEF2   Gene   UCSC   Ensembl
• Aliases: CNrasGEF, NRAPGEP, PDZ-GEF1, PDZGEF1, RA-GEF, RA-GEF-1, RAGEF, Rap-GEP, nRap GEP
• Gene name: Rap guanine nucleotide exchange factor 2
• Alternate names: rap guanine nucleotide exchange factor 2, PDZ domain containing guanine nucleotide exchange factor (GEF) 1, PDZ domain-containing guanine nucleotide exchange factor 1, RA(Ras/Rap1A-associating)-GEF, Rap guanine nucleotide exchange factor (GEF) 2, cyclic nucleo,
• Gene location: 4q32.1 (159104050: 159360172)     Exons: 35     NC_000004.12
• Gene summary(Entrez): Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF2, serve a
• OMIM: 609530

Protein Summary

• Protein general information: Q9Y4G8  
  • Name: Rap guanine nucleotide exchange factor 2 (Cyclic nucleotide ras GEF) (CNrasGEF) (Neural RAP guanine nucleotide exchange protein) (nRap GEP) (PDZ domain containing guanine nucleotide exchange factor 1) (PDZ GEF1) (RA GEF 1) (Ras/Rap1 associating GEF 1)
  • Length: 1499  
  • Mass: 167417
  • Tissue specificity: Expressed in primary neuronal and endocrine cells (at protein level). Highest expression levels in brain. Lower expression levels in heart, kidney, lung, placenta and blood leukocytes. {ECO
• Sequence:

  MKPLAIPANHGVMGQQEKHSLPADFTKLHLTDSLHPQVTHVSSSHSGCSITSDSGSSSLSDIYQATESEAGDMDL
  SGLPETAVDSEDDDDEEDIERASDPLMSRDIVRDCLEKDPIDRTDDDIEQLLEFMHQLPAFANMTMSVRRELCAV
  MVFAVVERAGTIVLNDGEELDSWSVILNGSVEVTYPDGKAEILCMGNSFGVSPTMDKEYMKGVMRTKVDDCQFVC
  IAQQDYCRILNQVEKNMQKVEEEGEIVMVKEHRELDRTGTRKGHIVIKGTSERLTMHLVEEHSVVDPTFIEDFLL
  TYRTFLSSPMEVGKKLLEWFNDPSLRDKVTRVVLLWVNNHFNDFEGDPAMTRFLEEFENNLEREKMGGHLRLLNI
  ACAAKAKRRLMTLTKPSREAPLPFILLGGSEKGFGIFVDSVDSGSKATEAGLKRGDQILEVNGQNFENIQLSKAM
  EILRNNTHLSITVKTNLFVFKELLTRLSEEKRNGAPHLPKIGDIKKASRYSIPDLAVDVEQVIGLEKVNKKSKAN
  TVGGRNKLKKILDKTRISILPQKPYNDIGIGQSQDDSIVGLRQTKHIPTALPVSGTLSSSNPDLLQSHHRILDFS
  ATPDLPDQVLRVFKADQQSRYIMISKDTTAKEVVIQAIREFAVTATPDQYSLCEVSVTPEGVIKQRRLPDQLSKL
  ADRIQLSGRYYLKNNMETETLCSDEDAQELLRESQISLLQLSTVEVATQLSMRNFELFRNIEPTEYIDDLFKLRS
  KTSCANLKRFEEVINQETFWVASEILRETNQLKRMKIIKHFIKIALHCRECKNFNSMFAIISGLNLAPVARLRTT
  WEKLPNKYEKLFQDLQDLFDPSRNMAKYRNVLNSQNLQPPIIPLFPVIKKDLTFLHEGNDSKVDGLVNFEKLRMI
  AKEIRHVGRMASVNMDPALMFRTRKKKWRSLGSLSQGSTNATVLDVAQTGGHKKRVRRSSFLNAKKLYEDAQMAR
  KVKQYLSNLELEMDEESLQTLSLQCEPATNTLPKNPGDKKPVKSETSPVAPRAGSQQKAQSLPQPQQQPPPAHKI
  NQGLQVPAVSLYPSRKKVPVKDLPPFGINSPQALKKILSLSEEGSLERHKKQAEDTISNASSQLSSPPTSPQSSP
  RKGYTLAPSGTVDNFSDSGHSEISSRSSIVSNSSFDSVPVSLHDERRQRHSVSIVETNLGMGRMERRTMIEPDQY
  SLGSYAPMSEGRGLYATATVISSPSTEELSQDQGDRASLDAADSGRGSWTSCSSGSHDNIQTIQHQRSWETLPFG
  HTHFDYSGDPAGLWASSSHMDQIMFSDHSTKYNRQNQSRESLEQAQSRASWASSTGYWGEDSEGDTGTIKRRGGK
  DVSIEAESSSLTSVTTEETKPVPMPAHIAVASSTTKGLIARKEGRYREPPPTPPGYIGIPITDFPEGHSHPARKP
  PDYNVALQRSRMVARSSDTAGPSSVQQPHGHPTSSRPVNKPQWHKPNESDPRLAPYQSQGFSTEEDEDEQVSAV

• Structural information:
  • Protein Domains: (267..38-)
    (/note="N-terminal-Ras-GEF)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00135-)
    (385..47-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143,-ECO:0000305)
    (606..69-)
    (/note="Ras-associating-)
    (/evidence="ECO:0000-)
  • Interpro: IPR018490  IPR000595  IPR001478  IPR036034  IPR000159   IPR030739  IPR008937  IPR000651  IPR023578  IPR001895  IPR014710  IPR029071  
  • Prosite: PS50042 PS50106 PS50200 PS50009 PS50212
  • CDD: cd00038 cd00155 cd06224
  • STRING: ENSP00000264431
• Other Databases: GeneCards:  RAPGEF2  Malacards:  RAPGEF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071880	adenylate cyclase-activating adrenergic receptor signaling pathway	IDA	biological process
GO:0071320	cellular response to cAMP	IDA	biological process
GO:0071320	cellular response to cAMP	IDA	biological process
GO:0071320	cellular response to cAMP	IDA	biological process
GO:0071320	cellular response to cAMP	IDA	biological process
GO:0050699	WW domain binding	IDA	molecular function
GO:0050699	WW domain binding	IDA	molecular function
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0043950	positive regulation of cAMP-mediated signaling	IDA	biological process
GO:0031175	neuron projection development	IDA	biological process
GO:0019933	cAMP-mediated signaling	IDA	biological process
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0007218	neuropeptide signaling pathway	IDA	biological process
GO:0005088	Ras guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0005088	Ras guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0005088	Ras guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:2000670	positive regulation of dendritic cell apoptotic process	IDA	biological process
GO:2000481	positive regulation of cAMP-dependent protein kinase activity	IDA	biological process
GO:0071321	cellular response to cGMP	IDA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IDA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IDA	biological process
GO:0050774	negative regulation of dendrite morphogenesis	IDA	biological process
GO:0045860	positive regulation of protein kinase activity	IDA	biological process
GO:0045860	positive regulation of protein kinase activity	IDA	biological process
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0031697	beta-1 adrenergic receptor binding	IDA	molecular function
GO:0030553	cGMP binding	IDA	NOT|molecular function
GO:0030553	cGMP binding	IDA	NOT|molecular function
GO:0030552	cAMP binding	IDA	NOT|molecular function
GO:0030552	cAMP binding	IDA	NOT|molecular function
GO:0030552	cAMP binding	IDA	molecular function
GO:0030552	cAMP binding	IDA	NOT|molecular function
GO:0030165	PDZ domain binding	IDA	molecular function
GO:0030165	PDZ domain binding	IDA	molecular function
GO:0030165	PDZ domain binding	IDA	molecular function
GO:0017034	Rap guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0017034	Rap guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0017034	Rap guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0017034	Rap guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0017034	Rap guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0017034	Rap guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IDA	biological process
GO:0005770	late endosome	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:1990090	cellular response to nerve growth factor stimulus	ISS	biological process
GO:1901888	regulation of cell junction assembly	IMP	biological process
GO:0061028	establishment of endothelial barrier	IMP	biological process
GO:0048167	regulation of synaptic plasticity	ISS	biological process
GO:0032991	protein-containing complex	ISS	cellular component
GO:0043005	neuron projection	ISS	cellular component
GO:0032092	positive regulation of protein binding	ISS	biological process
GO:0005911	cell-cell junction	ISS	cellular component
GO:0001764	neuron migration	ISS	biological process
GO:2001224	positive regulation of neuron migration	ISS	biological process
GO:2001214	positive regulation of vasculogenesis	ISS	biological process
GO:0048022	negative regulation of melanin biosynthetic process	ISS	biological process
GO:0045202	synapse	ISS	cellular component
GO:0043025	neuronal cell body	ISS	cellular component
GO:0038180	nerve growth factor signaling pathway	ISS	biological process
GO:0043547	positive regulation of GTPase activity	IMP	biological process
GO:0032486	Rap protein signal transduction	IMP	biological process
GO:0031547	brain-derived neurotrophic factor receptor signaling pathway	ISS	biological process
GO:0021884	forebrain neuron development	ISS	biological process
GO:0021591	ventricular system development	ISS	biological process
GO:0017034	Rap guanyl-nucleotide exchange factor activity	IMP	molecular function
GO:0010976	positive regulation of neuron projection development	ISS	biological process
GO:0005886	plasma membrane	ISS	cellular component
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:0001568	blood vessel development	ISS	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0017034	Rap guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005923	bicellular tight junction	IDA	cellular component
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0017034	Rap guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0030139	endocytic vesicle	IDA	cellular component
GO:0070300	phosphatidic acid binding	IDA	molecular function
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0019933	cAMP-mediated signaling	NAS	biological process
GO:0090557	establishment of endothelial intestinal barrier	IMP	biological process
GO:0035556	intracellular signal transduction	TAS	biological process
GO:0019992	diacylglycerol binding	NAS	molecular function
GO:0007264	small GTPase mediated signal transduction	TAS	biological process
GO:0007264	small GTPase mediated signal transduction	TAS	biological process
GO:0000165	MAPK cascade	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	NAS	molecular function
GO:0072659	protein localization to plasma membrane	IMP	biological process
GO:0005887	integral component of plasma membrane	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0043547	positive regulation of GTPase activity	IMP	biological process
GO:0030033	microvillus assembly	IGI	biological process

KEGG pathways

Pathway id	Pathway name
hsa04010	MAPK signaling pathway
hsa04015	Rap1 signaling pathway
hsa04530	Tight junction

Diseases

Associated diseases	References
Familial adult myoclonic epilepsy	KEGG:H02213
Familial adult myoclonic epilepsy	KEGG:H02213
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)