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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Kidney Insufficiency Acute Kidney Insufficiency CTD_human_DG 21745194
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of rectum Adenocarcinoma Of Rectum BEFREE 30809467
★☆☆☆☆
Found in Text Mining only
Anaplastic carcinoma Anaplastic Carcinoma BEFREE 25372777
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 19475578, 27598965
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety disorder Pubtator 19475578 Associate
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 19475578, 27598965
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 21426315, 31932625 Associate
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 30518738, 30915767
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 29111327
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28210903, 28755423
★☆☆☆☆
Found in Text Mining only