• Gene id: 11069

Gene Summary

• Gene Symbol: RAPGEF4   Gene   UCSC   Ensembl
• Aliases: CAMP-GEFII, CGEF2, EPAC, EPAC 2, EPAC2, Nbla00496
• Gene name: Rap guanine nucleotide exchange factor 4
• Alternate names: rap guanine nucleotide exchange factor 4, RAP guanine-nucleotide-exchange factor (GEF) 4, Rap guanine nucleotide exchange factor (GEF) 4, cAMP-regulated guanine nucleotide exchange factor II, exchange factor directly activated by cAMP 2, exchange protein direc,
• Gene location: 2q31.1 (172735281: 173052892)     Exons: 37     NC_000002.12
• OMIM: 601447

Protein Summary

• Protein general information: Q8WZA2  
  • Name: Rap guanine nucleotide exchange factor 4 (Exchange factor directly activated by cAMP 2) (Exchange protein directly activated by cAMP 2) (EPAC 2) (cAMP regulated guanine nucleotide exchange factor II) (cAMP GEFII)
  • Length: 1011  
  • Mass: 115522
  • Tissue specificity: Predominantly expressed in brain and adrenal gland. Isoform 2 is expressed in liver. Isoform 1 is expressed in liver at very low levels.
• Sequence:

  MVAAHAAHSSSSAEWIACLDKRPLERSSEDVDIIFTRLKEVKAFEKFHPNLLHQICLCGYYENLEKGITLFRQGD
  IGTNWYAVLAGSLDVKVSETSSHQDAVTICTLGIGTAFGESILDNTPRHATIVTRESSELLRIEQKDFKALWEKY
  RQYMAGLLAPPYGVMETGSNNDRIPDKENTPLIEPHVPLRPANTITKVPSEKILRAGKILRNAILSRAPHMIRDR
  KYHLKTYRQCCVGTELVDWMMQQTPCVHSRTQAVGMWQVLLEDGVLNHVDQEHHFQDKYLFYRFLDDEHEDAPLP
  TEEEKKECDEELQDTMLLLSQMGPDAHMRMILRKPPGQRTVDDLEIIYEELLHIKALSHLSTTVKRELAGVLIFE
  SHAKGGTVLFNQGEEGTSWYIILKGSVNVVIYGKGVVCTLHEGDDFGKLALVNDAPRAASIVLREDNCHFLRVDK
  EDFNRILRDVEANTVRLKEHDQDVLVLEKVPAGNRASNQGNSQPQQKYTVMSGTPEKILEHFLETIRLEATLNEA
  TDSVLNDFIMMHCVFMPNTQLCPALVAHYHAQPSQGTEQEKMDYALNNKRRVIRLVLQWAAMYGDLLQEDDVSMA
  FLEEFYVSVSDDARMIAALKEQLPELEKIVKQISEDAKAPQKKHKVLLQQFNTGDERAQKRQPIRGSDEVLFKVY
  CMDHTYTTIRVPVATSVKEVISAVADKLGSGEGLIIVKMSSGGEKVVLKPNDVSVFTTLTINGRLFACPREQFDS
  LTPLPEQEGPTVGTVGTFELMSSKDLAYQMTIYDWELFNCVHELELIYHTFGRHNFKKTTANLDLFLRRFNEIQF
  WVVTEICLCSQLSKRVQLLKKFIKIAAHCKEYKNLNSFFAIVMGLSNVAVSRLALTWEKLPSKFKKFYAEFESLM
  DPSRNHRAYRLTVAKLEPPLIPFMPLLIKDMTFTHEGNKTFIDNLVNFEKMRMIANTARTVRYYRSQPFNPDAAQ
  ANKNHQDVRSYVRQLNVIDNQRTLSQMSHRLEPRRP

• Structural information:
  • Protein Domains: (216..29-)
    (/note="DEP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00066-)
    (496..63-)
    (/note="N-terminal-Ras-GEF)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00135-)
    (772..100-)
    (/note="Ras-GEF-)
    (/evidence="ECO:0000255|PROSITE-ProRule:-)
  • Interpro: IPR018490  IPR000595  IPR000591  IPR008937  IPR000651   IPR019804  IPR023578  IPR001895  IPR036964  IPR014710  IPR029071  IPR036388  IPR036390  
  • Prosite: PS50042 PS50186 PS00720 PS50009 PS50212
  • CDD: cd00038 cd00155 cd06224
  • STRING: ENSP00000380271
• Other Databases: GeneCards:  RAPGEF4  Malacards:  RAPGEF4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017016	Ras GTPase binding	ISS	molecular function
GO:0005088	Ras guanyl-nucleotide exchange factor activity	ISS	molecular function
GO:0030552	cAMP binding	ISS	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0030552	cAMP binding	IEA	molecular function
GO:0006887	exocytosis	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0050796	regulation of insulin secretion	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:0005088	Ras guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0017016	Ras GTPase binding	IEA	molecular function
GO:0017156	calcium-ion regulated exocytosis	IEA	biological process
GO:0017157	regulation of exocytosis	IEA	biological process
GO:0019933	cAMP-mediated signaling	IEA	biological process
GO:0030073	insulin secretion	IEA	biological process
GO:0098693	regulation of synaptic vesicle cycle	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0030552	cAMP binding	IEA	molecular function
GO:0098686	hippocampal mossy fiber to CA3 synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04015	Rap1 signaling pathway
hsa04024	cAMP signaling pathway
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04072	Phospholipase D signaling pathway
hsa04670	Leukocyte transendothelial migration
hsa04911	Insulin secretion

Diseases

Associated diseases	References
autistic disorder	PMID:14593429
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray