Gene Gene information from NCBI Gene database.
Entrez ID 10411
Gene name Rap guanine nucleotide exchange factor 3
Gene symbol RAPGEF3
Synonyms (NCBI Gene)
CAMP-GEFIEPACEPAC1HSU79275bcm910
Chromosome 12
Chromosome location 12q13.11
miRNA miRNA information provided by mirtarbase database.
121
miRTarBase ID miRNA Experiments Reference
MIRT019181 hsa-miR-335-5p Microarray 18185580
MIRT023183 hsa-miR-124-3p Microarray 18668037
MIRT527554 hsa-miR-6782-3p PAR-CLIP 22012620
MIRT527553 hsa-miR-4714-3p PAR-CLIP 22012620
MIRT527552 hsa-miR-4286 PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001525 Process Angiogenesis 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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606057 16629 ENSG00000079337
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95398
Protein name Rap guanine nucleotide exchange factor 3 (Exchange factor directly activated by cAMP 1) (Exchange protein directly activated by cAMP 1) (EPAC 1) (Rap1 guanine-nucleotide-exchange factor directly activated by cAMP) (cAMP-regulated guanine nucleotide exchan
Protein function Guanine nucleotide exchange factor (GEF) for RAP1A and RAP2A small GTPases that is activated by binding cAMP. Through simultaneous binding of PDE3B to RAPGEF3 and PIK3R6 is assembled in a signaling complex in which it activates the PI3K gamma co
PDB 6H7E
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00610 DEP 114 184 Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP) Domain
PF00027 cNMP_binding 265 348 Cyclic nucleotide-binding domain Domain
PF00618 RasGEF_N 387 493 RasGEF N-terminal motif Domain
PF00617 RasGEF 665 843 RasGEF domain Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed with highest levels in adult kidney, heart, thyroid and brain, and fetal kidney. {ECO:0000269|PubMed:9856955}.
Sequence
MKVGWPGESCWQVGLAVEDSPALGAPRVGALPDVVPEGTLLNMVLRRMHRPRSCSYQLLL
EHQRPSCIQGLRWTPLTNSEESLDFSESLEQASTERVLRAGRQLHRHLLATCPNLIRDRK
YHLRLYRQCCSGRELVDGILALGLGVHSRSQVVGICQVLLDEGALCHVKHDWAFQDRDAQ
FYRF
PGPEPEPVRTHEMEEELAEAVALLSQRGPDALLTVALRKPPGQRTDEELDLIFEEL
LHIKAVAHLSNSVKRELAAVLLFEPHSKAGTVLFSQGDKGTSWYIIWKGSVNVVTHGKGL
VTTLHEGDDFGQLALVNDAPRAATIILREDNCHFLRVDKQDFNRIIKD
VEAKTMRLEEHG
KVVLVLERASQGAGPSRPPTPGRNRYTVMSGTPEKILELLLEAMGPDSSAHDPTETFLSD
FLLTHRVFMPSAQLCAALLHHFHVEPAGGSEQERSTYVCNKRQQILRLVSQWVALYGSML
HTDPVATSFLQKL
SDLVGRDTRLSNLLREQWPERRRCHRLENGCGNASPQMKARNLPVWL
PNQDEPLPGSSCAIQVGDKVPYDICRPDHSVLTLQLPVTASVREVMAALAQEDGWTKGQV
LVKVNSAGDAIGLQPDARGVATSLGLNERLFVVNPQEVHELIPHPDQLGPTVGSAEGLDL
VSAKDLAGQLTDHDWSLFNSIHQVELIHYVLGPQHLRDVTTANLERFMRRFNELQYWVAT
ELCLCPVPGPRAQLLRKFIKLAAHLKEQKNLNSFFAVMFGLSNSAISRLAHTWERLPHKV
RKLYSALERLLDPSWNHRVYRLALAKLSPPVIPFMPLLLKDMTFIHEGNHTLVENLINFE
KMR
MMARAARMLHHCRSHNPVPLSPLRSRVSHLHEDSQVARISTCSEQSLSTRSPASTWA
YVQQLKVIDNQRELSRLSRELEP
Sequence length 923
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
15
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs80097705, rs142535251 RCV005913416
RCV005910568
Cervical cancer Benign rs80097705 RCV005913419
Clear cell carcinoma of kidney Benign rs142535251 RCV005910569
Colon adenocarcinoma Benign rs80097705 RCV005913415
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Associate 22110680
Adenocarcinoma of Lung Associate 32998690
Airway Remodeling Associate 21426315
Anxiety Associate 19475578
Asthma Associate 21426315, 31932625
Breast Neoplasms Stimulate 28755423
Breast Neoplasms Associate 39270542
C9 Deficiency Inhibit 33362237
Carcinogenesis Associate 24316969
Carcinoma Hepatocellular Associate 31514484