Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51735
Gene name Gene Name - the full gene name approved by the HGNC.
Rap guanine nucleotide exchange factor 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RAPGEF6
Synonyms (NCBI Gene) Gene synonyms aliases
KIA001LB, PDZ-GEF2, PDZGEF2, RA-GEF-2, RAGEF2
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.1
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT030847 hsa-miR-21-5p Microarray 18591254
MIRT036590 hsa-miR-940 CLASH 23622248
MIRT720726 hsa-miR-4698 HITS-CLIP 19536157
MIRT720725 hsa-miR-6736-3p HITS-CLIP 19536157
MIRT720724 hsa-miR-4267 HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 11524421
GO:0005515 Function Protein binding IPI 12095257, 14698303, 17240990, 23434281
GO:0005813 Component Centrosome IDA
GO:0005829 Component Cytosol IDA 22797597
GO:0005886 Component Plasma membrane IDA 11524421
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610499 20655 ENSG00000158987
Protein
UniProt ID Q8TEU7
Protein name Rap guanine nucleotide exchange factor 6 (PDZ domain-containing guanine nucleotide exchange factor 2) (PDZ-GEF2) (RA-GEF-2)
Protein function Guanine nucleotide exchange factor (GEF) for Rap1A, Rap2A and M-Ras GTPases. Does not interact with cAMP.
PDB 2D93 , 3LNY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00027 cNMP_binding 300 382 Cyclic nucleotide-binding domain Domain
PF00618 RasGEF_N 415 502 RasGEF N-terminal motif Domain
PF00595 PDZ 530 609 PDZ domain Domain
PF00788 RA 749 835 Ras association (RalGDS/AF-6) domain Domain
PF00617 RasGEF 863 1041 RasGEF domain Family
Tissue specificity TISSUE SPECIFICITY: Isoform 3 has highest expression levels in the brain, heart, liver, lung and placenta and is barely detectable in skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:11524421}.
Sequence
MNSPVDPGARQALRKKPPERTPEDLNTIYSYLHGMEILSNLREHQLRLMSARARYERYSG
NQVLFCSETIARCWYILLSGSVLVKGSMVLPPCSFGKQFGGKRGCDCLVLEPSEMIVVEN
AKDNEDSILQREIPARQSRRRFRKINYKGERQTITDDVEVNSYLSLPADLTKMHLTENPH
PQVTHVSSSQSGCSIASDSGSSSLSDIYQATESEVGDVDLTRLPEGPVDSEDDEEEDEEI
DRTDPLQGRDLVRECLEKEPADKTDDDIEQLLEFMHQLPAFANMTMSVRRELCSVMIFEV
VEQAGAIILEDGQELDSWYVILNGTVEISHPDGKVENLFMGNSFGITPTLDKQYMHGIVR
TKVDDCQFVCIAQQDYWRILNH
VEKNTHKVEEEGEIVMVHEHRELDRSGTRKGHIVIKAT
PERLIMHLIEEHSIVDPTYIEDFLLTYRTFLESPLDVGIKLLEWFKIDSLRDKVTRIVLL
WVNNHFNDFEGDPAMTRFLEEF
EKNLEDTKMNGHLRLLNIACAAKAKWRQVVLQKASRES
PLQFSLNGGSEKGFGIFVEGVEPGSKAADSGLKRGDQIMEVNGQNFENITFMKAVEILRN
NTHLALTVK
TNIFVFKELLFRTEQEKSGVPHIPKIAEKKSNRHSIQHVPGDIEQTSQEKG
SKKVKANTVSGGRNKIRKILDKTRFSILPPKLFSDGGLSQSQDDSIVGTRHCRHSLAIMP
IPGTLSSSSPDLLQPTTSMLDFSNPSDIPDQVIRVFKVDQQSCYIIISKDTTAKEVVFHA
VHEFGLTGASDTYSLCEVSVTPEGVIKQRRLPDQFSKLADRIQLNGRYYLKNNME
TETLC
SDEDAQELVKESQLSMLQLSTIEVATQLSMRDFDLFRNIEPTEYIDDLFKLNSKTGNTHL
KRFEDIVNQETFWVASEILTEANQLKRMKIIKHFIKIALHCRECKNFNSMFAIISGLNLA
SVARLRGTWEKLPSKYEKHLQDLQDIFDPSRNMAKYRNILSSQSMQPPIIPLFPVVKKDM
TFLHEGNDSKVDGLVNFEKLR
MISKEIRQVVRMTSANMDPAMMFRQRSLSQGSTNSNMLD
VQGGAHKKRARRSSLLNAKKLYEDAQMARKVKQYLSSLDVETDEEKFQMMSLQWEPAYGT
LTKNLSEKRSAKSSEMSPVPMRSAGQTTKAHLHQPHRVSQVLQVPAVNLHPIRKKGQTKD
PALNTSLPQKVLGTTEEISGKKHTEDTISVASSLHSSPPASPQGSPHKGYTLIPSAKSDN
LSDSSHSEISSRSSIVSNCSVDSMSAALQDERCSSQALAVPESTGALEKTEHASGIGDHS
QHGPGWTLLKPSLIKCLAVSSSVSNEEISQEHIIIEAADSGRGSWTSCSSSSHDNFQSLP
NPKSWDFLNSYRHTHLDDPIAEVEPTDSEPYSCSKSCSRTCGQCKGSLERKSWTSSSSLS
DTYEPNYGTVKQRVLESTPAESSEGLDPKDATDPVYKTVTSSTEKGLIVYCVTSPKKDDR
YREPPPTPPGYLGISLADLKEGPHTHLKPPDYSVAVQRSKMMHNSLSRLPPASLSSNLVA
CVPSKIVTQPQRHNLQPFHPKLGDVTDADSEADENEQVSAV
Sequence length 1601
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Rap1 signaling pathway
Tight junction
 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
25778476
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
17030554, 18718982
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma 25918132 ClinVar, GWAS
Associations from Text Mining
Disease Name Relationship Type References
Salivary Duct Calculi Associate 34176176