Gene Gene information from NCBI Gene database.
Entrez ID 9693
Gene name Rap guanine nucleotide exchange factor 2
Gene symbol RAPGEF2
Synonyms (NCBI Gene)
CNrasGEFNRAPGEPPDZ-GEF1PDZGEF1RA-GEFRA-GEF-1RAGEFRap-GEPnRap GEP
Chromosome 4
Chromosome location 4q32.1
Summary Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF2, serve a
miRNA miRNA information provided by mirtarbase database.
512
miRTarBase ID miRNA Experiments Reference
MIRT017869 hsa-miR-335-5p Microarray 18185580
MIRT020791 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT023803 hsa-miR-1-3p Microarray 18668037
MIRT045434 hsa-miR-149-5p CLASH 23622248
MIRT039795 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
90
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade NAS 10934204
GO:0001568 Process Blood vessel development ISS
GO:0001764 Process Neuron migration ISS
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 10608883, 10801446, 12391161, 16272156
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609530 16854 ENSG00000109756
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y4G8
Protein name Rap guanine nucleotide exchange factor 2 (Cyclic nucleotide ras GEF) (CNrasGEF) (Neural RAP guanine nucleotide exchange protein) (nRap GEP) (PDZ domain-containing guanine nucleotide exchange factor 1) (PDZ-GEF1) (RA-GEF-1) (Ras/Rap1-associating GEF-1)
Protein function Functions as a guanine nucleotide exchange factor (GEF), which activates Rap and Ras family of small GTPases by exchanging bound GDP for free GTP in a cAMP-dependent manner. Serves as a link between cell surface receptors and Rap/Ras GTPases in
PDB 6QDT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00618 RasGEF_N 270 357 RasGEF N-terminal motif Domain
PF00595 PDZ 386 465 PDZ domain Domain
PF00788 RA 606 692 Ras association (RalGDS/AF-6) domain Domain
PF00617 RasGEF 720 898 RasGEF domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in primary neuronal and endocrine cells (at protein level). Highest expression levels in brain. Lower expression levels in heart, kidney, lung, placenta and blood leukocytes. {ECO:0000269|PubMed:10934204, ECO:0000269|PubMed:1
Sequence
MKPLAIPANHGVMGQQEKHSLPADFTKLHLTDSLHPQVTHVSSSHSGCSITSDSGSSSLS
DIYQATESEAGDMDLSGLPETAVDSEDDDDEEDIERASDPLMSRDIVRDCLEKDPIDRTD
DDIEQLLEFMHQLPAFANMTMSVRRELCAVMVFAVVERAGTIVLNDGEELDSWSVILNGS
VEVTYPDGKAEILCMGNSFGVSPTMDKEYMKGVMRTKVDDCQFVCIAQQDYCRILNQVEK
NMQKVEEEGEIVMVKEHRELDRTGTRKGHIVIKGTSERLTMHLVEEHSVVDPTFIEDFLL
TYRTFLSSPMEVGKKLLEWFNDPSLRDKVTRVVLLWVNNHFNDFEGDPAMTRFLEEF
ENN
LEREKMGGHLRLLNIACAAKAKRRLMTLTKPSREAPLPFILLGGSEKGFGIFVDSVDSGS
KATEAGLKRGDQILEVNGQNFENIQLSKAMEILRNNTHLSITVKT
NLFVFKELLTRLSEE
KRNGAPHLPKIGDIKKASRYSIPDLAVDVEQVIGLEKVNKKSKANTVGGRNKLKKILDKT
RISILPQKPYNDIGIGQSQDDSIVGLRQTKHIPTALPVSGTLSSSNPDLLQSHHRILDFS
ATPDLPDQVLRVFKADQQSRYIMISKDTTAKEVVIQAIREFAVTATPDQYSLCEVSVTPE
GVIKQRRLPDQLSKLADRIQLSGRYYLKNNME
TETLCSDEDAQELLRESQISLLQLSTVE
VATQLSMRNFELFRNIEPTEYIDDLFKLRSKTSCANLKRFEEVINQETFWVASEILRETN
QLKRMKIIKHFIKIALHCRECKNFNSMFAIISGLNLAPVARLRTTWEKLPNKYEKLFQDL
QDLFDPSRNMAKYRNVLNSQNLQPPIIPLFPVIKKDLTFLHEGNDSKVDGLVNFEKLR
MI
AKEIRHVGRMASVNMDPALMFRTRKKKWRSLGSLSQGSTNATVLDVAQTGGHKKRVRRSS
FLNAKKLYEDAQMARKVKQYLSNLELEMDEESLQTLSLQCEPATNTLPKNPGDKKPVKSE
TSPVAPRAGSQQKAQSLPQPQQQPPPAHKINQGLQVPAVSLYPSRKKVPVKDLPPFGINS
PQALKKILSLSEEGSLERHKKQAEDTISNASSQLSSPPTSPQSSPRKGYTLAPSGTVDNF
SDSGHSEISSRSSIVSNSSFDSVPVSLHDERRQRHSVSIVETNLGMGRMERRTMIEPDQY
SLGSYAPMSEGRGLYATATVISSPSTEELSQDQGDRASLDAADSGRGSWTSCSSGSHDNI
QTIQHQRSWETLPFGHTHFDYSGDPAGLWASSSHMDQIMFSDHSTKYNRQNQSRESLEQA
QSRASWASSTGYWGEDSEGDTGTIKRRGGKDVSIEAESSSLTSVTTEETKPVPMPAHIAV
ASSTTKGLIARKEGRYREPPPTPPGYIGIPITDFPEGHSHPARKPPDYNVALQRSRMVAR
SSDTAGPSSVQQPHGHPTSSRPVNKPQWHKPNESDPRLAPYQSQGFSTEEDEDEQVSAV
Sequence length 1499
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
Rap1 signaling pathway
Tight junction
  RAF/MAP kinase cascade
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS Disgenet, GenCC
Disgenet, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPILEPSIES, MYOCLONIC CTD
★★☆☆☆
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
Aneuploidy Aneuploidy Pubtator 25332235 Associate
★☆☆☆☆
Found in Text Mining only
Benign adult familial myoclonic epilepsy Benign Myoclonic Epilepsy BEFREE 29507423
★☆☆☆☆
Found in Text Mining only
Benign Infantile Myoclonic Epilepsy Myoclonic Epilepsy CTD_human_DG 29507423
★☆☆☆☆
Found in Text Mining only
Early Childhood Epilepsy, Myoclonic Myoclonic Epilepsy CTD_human_DG 29507423
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy BEFREE 31483537
★☆☆☆☆
Found in Text Mining only
Epilepsy, Myoclonic, Infantile Myoclonic Epilepsy CTD_human_DG 29507423
★☆☆☆☆
Found in Text Mining only
Glomerulosclerosis (disorder) Glomerulosclerosis BEFREE 31171376
★☆☆☆☆
Found in Text Mining only
Idiopathic Myoclonic Epilepsy Myoclonic Epilepsy CTD_human_DG 29507423
★☆☆☆☆
Found in Text Mining only
Infantile Severe Myoclonic Epilepsy Myoclonic Epilepsy CTD_human_DG 29507423
★☆☆☆☆
Found in Text Mining only
Myoclonic Absence Epilepsy Myotonia Levior CTD_human_DG 29507423
★☆☆☆☆
Found in Text Mining only