Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	11069
Gene name Gene Name - the full gene name approved by the HGNC.	Rap guanine nucleotide exchange factor 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RAPGEF4
Synonyms (NCBI Gene) Gene synonyms aliases	CAMP-GEFII, CGEF2, EPAC, EPAC 2, EPAC2, Nbla00496
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q31.1

Show/Hide all(52)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018141	hsa-miR-335-5p	Microarray	18185580
MIRT027613	hsa-miR-98-5p	Microarray	19088304
MIRT029706	hsa-miR-26b-5p	Microarray	19088304
MIRT156411	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT156404	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT156411	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT156401	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT156417	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT156406	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT156424	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT156402	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT156403	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT156404	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT1290845	hsa-miR-106a	CLIP-seq
MIRT1290846	hsa-miR-106b	CLIP-seq
MIRT1290847	hsa-miR-130a	CLIP-seq
MIRT1290848	hsa-miR-130b	CLIP-seq
MIRT1290849	hsa-miR-17	CLIP-seq
MIRT1290850	hsa-miR-19a	CLIP-seq
MIRT1290851	hsa-miR-19b	CLIP-seq
MIRT1290852	hsa-miR-20a	CLIP-seq
MIRT1290853	hsa-miR-20b	CLIP-seq
MIRT1290854	hsa-miR-301a	CLIP-seq
MIRT1290855	hsa-miR-301b	CLIP-seq
MIRT1290856	hsa-miR-3666	CLIP-seq
MIRT1290857	hsa-miR-4295	CLIP-seq
MIRT1290858	hsa-miR-454	CLIP-seq
MIRT1290859	hsa-miR-488	CLIP-seq
MIRT1290860	hsa-miR-519a	CLIP-seq
MIRT1290861	hsa-miR-519b-3p	CLIP-seq
MIRT1290862	hsa-miR-519c-3p	CLIP-seq
MIRT1290863	hsa-miR-519d	CLIP-seq
MIRT1290864	hsa-miR-93	CLIP-seq
MIRT2086496	hsa-miR-1265	CLIP-seq
MIRT2086497	hsa-miR-1266	CLIP-seq
MIRT2086498	hsa-miR-1273e	CLIP-seq
MIRT2086499	hsa-miR-129-5p	CLIP-seq
MIRT2086500	hsa-miR-3664-3p	CLIP-seq
MIRT2086501	hsa-miR-4518	CLIP-seq
MIRT2086502	hsa-miR-4764-5p	CLIP-seq
MIRT2086496	hsa-miR-1265	CLIP-seq
MIRT2086497	hsa-miR-1266	CLIP-seq
MIRT2086498	hsa-miR-1273e	CLIP-seq
MIRT2086499	hsa-miR-129-5p	CLIP-seq
MIRT2086500	hsa-miR-3664-3p	CLIP-seq
MIRT2086501	hsa-miR-4518	CLIP-seq
MIRT2086502	hsa-miR-4764-5p	CLIP-seq
MIRT2607976	hsa-miR-3681	CLIP-seq
MIRT2607977	hsa-miR-3924	CLIP-seq
MIRT2607978	hsa-miR-410	CLIP-seq
MIRT2607979	hsa-miR-4460	CLIP-seq
MIRT2607980	hsa-miR-4727-3p	CLIP-seq

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	ISS
GO:0005515	Function	Protein binding	IPI	11438518, 24722188, 25416956, 32296183, 32814053
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	9856955
GO:0007264	Process	Small GTPase mediated signal transduction	IEA
GO:0016020	Component	Membrane	TAS	10777494
GO:0017156	Process	Calcium-ion regulated exocytosis	IEA
GO:0017157	Process	Regulation of exocytosis	IEA
GO:0019933	Process	CAMP-mediated signaling	IEA
GO:0030073	Process	Insulin secretion	IEA
GO:0030552	Function	CAMP binding	ISS
GO:0031267	Function	Small GTPase binding	ISS
GO:0050790	Process	Regulation of catalytic activity	IEA
GO:0050796	Process	Regulation of insulin secretion	TAS
GO:0098686	Component	Hippocampal mossy fiber to CA3 synapse	IEA
GO:0098693	Process	Regulation of synaptic vesicle cycle	IEA

MIM	HGNC	e!Ensembl
606058	16626	ENSG00000091428

Protein

UniProt ID

Q8WZA2

Protein 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)

Protein function

Guanine nucleotide exchange factor (GEF) for RAP1A, RAP1B and RAP2A small GTPases that is activated by binding cAMP. Seems not to activate RAB3A. Involved in cAMP-dependent, PKA-independent exocytosis through interaction with RIMS2 (By similarit

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00027	cNMP_binding	61 → 150	Cyclic nucleotide-binding domain	Domain
PF00610	DEP	220 → 289	Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP)	Domain
PF00027	cNMP_binding	375 → 459	Cyclic nucleotide-binding domain	Domain
PF00618	RasGEF_N	499 → 605	RasGEF N-terminal motif	Domain
PF00617	RasGEF	775 → 952	RasGEF domain	Family

Tissue specificity

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

MVAAHAAHSSSSAEWIACLDKRPLERSSEDVDIIFTRLKEVKAFEKFHPNLLHQICLCGY
YENLEKGITLFRQGDIGTNWYAVLAGSLDVKVSETSSHQDAVTICTLGIGTAFGESILDN
TPRHATIVTRESSELLRIEQKDFKALWEKYRQYMAGLLAPPYGVMETGSNNDRIPDKENT
PLIEPHVPLRPANTITKVPSEKILRAGKILRNAILSRAPHMIRDRKYHLKTYRQCCVGTE
LVDWMMQQTPCVHSRTQAVGMWQVLLEDGVLNHVDQEHHFQDKYLFYRFLDDEHEDAPLP
TEEEKKECDEELQDTMLLLSQMGPDAHMRMILRKPPGQRTVDDLEIIYEELLHIKALSHL
STTVKRELAGVLIFESHAKGGTVLFNQGEEGTSWYIILKGSVNVVIYGKGVVCTLHEGDD
FGKLALVNDAPRAASIVLREDNCHFLRVDKEDFNRILRDVEANTVRLKEHDQDVLVLEKV
PAGNRASNQGNSQPQQKYTVMSGTPEKILEHFLETIRLEATLNEATDSVLNDFIMMHCVF
MPNTQLCPALVAHYHAQPSQGTEQEKMDYALNNKRRVIRLVLQWAAMYGDLLQEDDVSMA
FLEEFYVSVSDDARMIAALKEQLPELEKIVKQISEDAKAPQKKHKVLLQQFNTGDERAQK
RQPIRGSDEVLFKVYCMDHTYTTIRVPVATSVKEVISAVADKLGSGEGLIIVKMSSGGEK
VVLKPNDVSVFTTLTINGRLFACPREQFDSLTPLPEQEGPTVGTVGTFELMSSKDLAYQM
TIYDWELFNCVHELELIYHTFGRHNFKKTTANLDLFLRRFNEIQFWVVTEICLCSQLSKR
VQLLKKFIKIAAHCKEYKNLNSFFAIVMGLSNVAVSRLALTWEKLPSKFKKFYAEFESLM
DPSRNHRAYRLTVAKLEPPLIPFMPLLIKDMTFTHEGNKTFIDNLVNFEKMRMIANTART
VRYYRSQPFNPDAAQANKNHQDVRSYVRQLNVIDNQRTLSQMSHRLEPRRP

Sequence length

1011

Interactions

View interactions

	KEGG		Reactome
	Rap1 signaling pathway cAMP signaling pathway Phospholipase D signaling pathway Hormone signaling Adrenergic signaling in cardiomyocytes Leukocyte transendothelial migration Insulin secretion		Integrin signaling Glucagon-like Peptide-1 (GLP1) regulates insulin secretion Rap1 signalling Regulation of insulin secretion

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Moyamoya disease	Moyamoya Disease, Moyamoya disease 1	rs121434527, rs121434528, rs387906592, rs397514563, rs797045187, rs1555675538, rs1568149971, rs1599150380, rs2079443410	29273593
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	31374203

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Evidence	Source
Unknown
Prostate cancer	prostate cancer, Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.	GenCC, GWAS, CBGDA
Moyamoya Disease	Moyamoya Disease		GWAS
Insomnia	Insomnia		GWAS

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining
Autistic Disorder	Associate	24204716
Breast Neoplasms	Associate	26474971
Cardiovascular Diseases	Associate	31316160, 31726720
Diabetes Mellitus	Associate	31726720
Endometrial Neoplasms	Associate	34337010
Lung Neoplasms	Associate	28232663
Melanoma	Associate	35834616
Neoplasm Metastasis	Associate	34511489
Neoplasms	Associate	35834616
Optic Nerve Hypoplasia	Associate	37807874
Ovarian Neoplasms	Associate	37800580
Prostatic Neoplasms	Associate	32800727
Vascular Remodeling	Associate	31316160

RAPGEF4 (Rap guanine nucleotide exchange factor 4)