• Gene id: 51735

Gene Summary

• Gene Symbol: RAPGEF6   Gene   UCSC   Ensembl
• Aliases: KIA001LB, PDZ-GEF2, PDZGEF2, RA-GEF-2, RAGEF2
• Gene name: Rap guanine nucleotide exchange factor 6
• Alternate names: rap guanine nucleotide exchange factor 6, PDZ domain containing guanine nucleotide exchange factor (GEF) 2, PDZ domain-containing guanine nucleotide exchange factor 2, PDZ domain-containing guanine nucleotide exchange factor I, Rap guanine nucleotide exchange,
• Gene location: 5q31.1 (113929323: 113977868)     Exons: 22     NC_000001.11
• OMIM: 610499

Protein Summary

• Protein general information: Q8TEU7  
  • Name: Rap guanine nucleotide exchange factor 6 (PDZ domain containing guanine nucleotide exchange factor 2) (PDZ GEF2) (RA GEF 2)
  • Length: 1601  
  • Mass: 179423
  • 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
• Sequence:

  MNSPVDPGARQALRKKPPERTPEDLNTIYSYLHGMEILSNLREHQLRLMSARARYERYSGNQVLFCSETIARCWY
  ILLSGSVLVKGSMVLPPCSFGKQFGGKRGCDCLVLEPSEMIVVENAKDNEDSILQREIPARQSRRRFRKINYKGE
  RQTITDDVEVNSYLSLPADLTKMHLTENPHPQVTHVSSSQSGCSIASDSGSSSLSDIYQATESEVGDVDLTRLPE
  GPVDSEDDEEEDEEIDRTDPLQGRDLVRECLEKEPADKTDDDIEQLLEFMHQLPAFANMTMSVRRELCSVMIFEV
  VEQAGAIILEDGQELDSWYVILNGTVEISHPDGKVENLFMGNSFGITPTLDKQYMHGIVRTKVDDCQFVCIAQQD
  YWRILNHVEKNTHKVEEEGEIVMVHEHRELDRSGTRKGHIVIKATPERLIMHLIEEHSIVDPTYIEDFLLTYRTF
  LESPLDVGIKLLEWFKIDSLRDKVTRIVLLWVNNHFNDFEGDPAMTRFLEEFEKNLEDTKMNGHLRLLNIACAAK
  AKWRQVVLQKASRESPLQFSLNGGSEKGFGIFVEGVEPGSKAADSGLKRGDQIMEVNGQNFENITFMKAVEILRN
  NTHLALTVKTNIFVFKELLFRTEQEKSGVPHIPKIAEKKSNRHSIQHVPGDIEQTSQEKGSKKVKANTVSGGRNK
  IRKILDKTRFSILPPKLFSDGGLSQSQDDSIVGTRHCRHSLAIMPIPGTLSSSSPDLLQPTTSMLDFSNPSDIPD
  QVIRVFKVDQQSCYIIISKDTTAKEVVFHAVHEFGLTGASDTYSLCEVSVTPEGVIKQRRLPDQFSKLADRIQLN
  GRYYLKNNMETETLCSDEDAQELVKESQLSMLQLSTIEVATQLSMRDFDLFRNIEPTEYIDDLFKLNSKTGNTHL
  KRFEDIVNQETFWVASEILTEANQLKRMKIIKHFIKIALHCRECKNFNSMFAIISGLNLASVARLRGTWEKLPSK
  YEKHLQDLQDIFDPSRNMAKYRNILSSQSMQPPIIPLFPVVKKDMTFLHEGNDSKVDGLVNFEKLRMISKEIRQV
  VRMTSANMDPAMMFRQRSLSQGSTNSNMLDVQGGAHKKRARRSSLLNAKKLYEDAQMARKVKQYLSSLDVETDEE
  KFQMMSLQWEPAYGTLTKNLSEKRSAKSSEMSPVPMRSAGQTTKAHLHQPHRVSQVLQVPAVNLHPIRKKGQTKD
  PALNTSLPQKVLGTTEEISGKKHTEDTISVASSLHSSPPASPQGSPHKGYTLIPSAKSDNLSDSSHSEISSRSSI
  VSNCSVDSMSAALQDERCSSQALAVPESTGALEKTEHASGIGDHSQHGPGWTLLKPSLIKCLAVSSSVSNEEISQ
  EHIIIEAADSGRGSWTSCSSSSHDNFQSLPNPKSWDFLNSYRHTHLDDPIAEVEPTDSEPYSCSKSCSRTCGQCK
  GSLERKSWTSSSSLSDTYEPNYGTVKQRVLESTPAESSEGLDPKDATDPVYKTVTSSTEKGLIVYCVTSPKKDDR
  YREPPPTPPGYLGISLADLKEGPHTHLKPPDYSVAVQRSKMMHNSLSRLPPASLSSNLVACVPSKIVTQPQRHNL
  QPFHPKLGDVTDADSEADENEQVSAV

• Structural information:
  • Protein Domains: (412..52-)
    (/note="N-terminal-Ras-GEF)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00135-)
    (530..61-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143,-ECO:0000305)
    (749..83-)
    (/note="Ras-associating-)
    (/evidence="ECO:0000-)
  • Interpro: IPR018490  IPR000595  IPR001478  IPR036034  IPR000159   IPR008937  IPR000651  IPR023578  IPR001895  IPR014710  
  • Prosite: PS50042 PS50106 PS50200 PS50009 PS50212
  • CDD: cd00038 cd00155 cd06224
  • PDB: 2D93 3LNY
  • PDBsum: 2D93 3LNY
  • STRING: ENSP00000296859
• Other Databases: GeneCards:  RAPGEF6  Malacards:  RAPGEF6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0070300	phosphatidic acid binding	IDA	molecular function
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0030139	endocytic vesicle	IDA	cellular component
GO:0017016	Ras GTPase binding	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0030742	GTP-dependent protein binding	IDA	molecular function
GO:0090557	establishment of endothelial intestinal barrier	IMP	NOT|biological process
GO:0043547	positive regulation of GTPase activity	IMP	biological process
GO:0007265	Ras protein signal transduction	NAS	biological process
GO:0043087	regulation of GTPase activity	NAS	biological process
GO:0030033	microvillus assembly	IGI	biological process
GO:0072659	protein localization to plasma membrane	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04015	Rap1 signaling pathway
hsa04530	Tight junction

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)