Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9693
Gene name Gene Name - the full gene name approved by the HGNC.
Rap guanine nucleotide exchange factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RAPGEF2
Synonyms (NCBI Gene) Gene synonyms aliases
CNrasGEF, NRAPGEP, PDZ-GEF1, PDZGEF1, RA-GEF, RA-GEF-1, RAGEF, Rap-GEP, nRap GEP
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q32.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade NAS 10934204
GO:0000165 Process MAPK cascade TAS
GO:0001568 Process Blood vessel development ISS
GO:0001764 Process Neuron migration ISS
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 10608883, 10801446, 12391161, 16272156
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609530 16854 ENSG00000109756
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Myoclonic encephalopathy Myoclonic Encephalopathy rs121918334, rs587777631, rs797045969, rs1554965669, rs1565035177, rs1195505218 29507423
Myoclonic epilepsy Myoclonic Epilepsy, Idiopathic Myoclonic Epilepsy, Symptomatic Myoclonic Epilepsy, Early Childhood Epilepsy, Myoclonic, Benign Infantile Myoclonic Epilepsy, Infantile Severe Myoclonic Epilepsy, Epilepsy, Myoclonic, Infantile rs267607103, rs267607104, rs147484110, rs74315442, rs74315443, rs121909346, rs121918622, rs121918623, rs121917954, rs121917955, rs1574272192, rs121918624, rs121918625, rs121918628, rs121918629
View all (378 more)
29507423
Unknown
Disease term Disease name Evidence References Source
Epilepsy epilepsy, familial adult myoclonic, 7 GenCC
Amyotrophic Lateral Sclerosis amyotrophic lateral sclerosis GenCC
Coronary artery disease Coronary artery disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Aneuploidy Associate 25332235
Death Associate 32596987
Dyslexia Acquired Associate 32596987
Neoplasms Associate 25332235
Olfaction Disorders Associate 27878761
Pediatric acute onset neuropsychiatric syndrome Associate 27878761
Pneumonia Associate 27508494