Gene
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002250 Process Adaptive immune response IEA
GO:0002250 Process Adaptive immune response TAS
GO:0005085 Function Guanyl-nucleotide exchange factor activity EXP 15334074, 16076873
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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
TPRHATIVTRESSELLRIEQKDFKALWEKY
RQYMAGLLAPPYGVMETGSNNDRIPDKENT
PLIEPHVPLRPANTITKVPSEKILRAGKILRNAILSRAPHMIRDRKYHLKTYRQCCVGTE
LVDWMMQQTPCVHSRTQAVGMWQVLLEDGVLNHVDQEHHFQDKYLFYRF
LDDEHEDAPLP
TEEEKKECDEELQDTMLLLSQMGPDAHMRMILRKPPGQRTVDDLEIIYEELLHIKALSHL
STTVKRELAGVLIFESHAKGGTVLFNQGEEGTSWYIILKGSVNVVIYGKGVVCTLHEGDD
FGKLALVNDAPRAASIVLREDNCHFLRVDKEDFNRILRD
VEANTVRLKEHDQDVLVLEKV
PAGNRASNQGNSQPQQKYTVMSGTPEKILEHFLETIRLEATLNEATDSVLNDFIMMHCVF
MPNTQLCPALVAHYHAQPSQGTEQEKMDYALNNKRRVIRLVLQWAAMYGDLLQEDDVSMA
FLEEF
YVSVSDDARMIAALKEQLPELEKIVKQISEDAKAPQKKHKVLLQQFNTGDERAQK
RQPIRGSDEVLFKVYCMDHTYTTIRVPVATSVKEVISAVADKLGSGEGLIIVKMSSGGEK
VVLKPNDVSVFTTLTINGRLFACPREQFDSLTPLPEQEGPTVGTVGTFELMSSKDLAYQM
TIYDWELFNCVHELELIYHTFGRHNFKKTTANLDLFLRRFNEIQFWVVTEICLCSQLSKR
VQLLKKFIKIAAHCKEYKNLNSFFAIVMGLSNVAVSRLALTWEKLPSKFKKFYAEFESLM
DPSRNHRAYRLTVAKLEPPLIPFMPLLIKDMTFTHEGNKTFIDNLVNFEKMR
MIANTART
VRYYRSQPFNPDAAQANKNHQDVRSYVRQLNVIDNQRTLSQMSHRLEPRRP
Sequence length 1011
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Insomnia Insomnia N/A N/A GWAS
Moyamoya Disease Moyamoya disease N/A N/A GWAS
Prostate cancer prostate cancer, Prostate cancer N/A N/A GenCC, GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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