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Aliases for RAPGEF6 Gene

Aliases for RAPGEF6 Gene

  • Rap Guanine Nucleotide Exchange Factor (GEF) 6 2 3
  • PDZGEF2 3 4 6
  • PDZ Domain Containing Guanine Nucleotide Exchange Factor (GEF) 2 2 3
  • PDZ Domain-Containing Guanine Nucleotide Exchange Factor 2 3 4
  • PDZ-GEF2 3 4
  • RA-GEF-2 3 4
  • RAGEF2 3 6
  • PDZ Domain-Containing Guanine Nucleotide Exchange Factor I 3
  • Rap Guanine Nucleotide Exchange Factor 6 3
  • KIA001LB 3

External Ids for RAPGEF6 Gene

Previous Symbols for RAPGEF6 Gene

  • PDZGEF2

Summaries for RAPGEF6 Gene

GeneCards Summary for RAPGEF6 Gene

RAPGEF6 (Rap Guanine Nucleotide Exchange Factor (GEF) 6) is a Protein Coding gene. Among its related pathways are Ras signaling pathway. GO annotations related to this gene include guanyl-nucleotide exchange factor activity and GTP-dependent protein binding. An important paralog of this gene is RASGEF1B.

UniProtKB/Swiss-Prot for RAPGEF6 Gene

  • Guanine nucleotide exchange factor (GEF) for Rap1A, Rap2A and M-Ras GTPases. Does not interact with cAMP.

Gene Wiki entry for RAPGEF6 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAPGEF6 Gene

Genomics for RAPGEF6 Gene

Genomic Location for RAPGEF6 Gene

Start:
131,423,921 bp from pter
End:
131,635,236 bp from pter
Size:
211,316 bases
Orientation:
Minus strand

Genomic View for RAPGEF6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RAPGEF6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAPGEF6 Gene

Regulatory Elements for RAPGEF6 Gene

Proteins for RAPGEF6 Gene

  • Protein details for RAPGEF6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TEU7-RPGF6_HUMAN
    Recommended name:
    Rap guanine nucleotide exchange factor 6
    Protein Accession:
    Q8TEU7
    Secondary Accessions:
    • A3KN82
    • A5PLL6
    • B7ZML2
    • E9PDV7
    • Q8NI21
    • Q8TEU6
    • Q96PC1

    Protein attributes for RAPGEF6 Gene

    Size:
    1601 amino acids
    Molecular mass:
    179423 Da
    Quaternary structure:
    • Interacts with the second PDZ domain of human PTP1e.

    Three dimensional structures from OCA and Proteopedia for RAPGEF6 Gene

    Alternative splice isoforms for RAPGEF6 Gene

neXtProt entry for RAPGEF6 Gene

Proteomics data for RAPGEF6 Gene at MOPED

Post-translational modifications for RAPGEF6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RAPGEF6 Gene

Domains for RAPGEF6 Gene

UniProtKB/Swiss-Prot:

RPGF6_HUMAN
Domain:
  • Contains 1 cyclic nucleotide-binding domain.:
    • Q8TEU7
  • Contains 1 N-terminal Ras-GEF domain.:
    • Q8TEU7
  • Contains 1 PDZ (DHR) domain.:
    • Q8TEU7
  • Contains 1 Ras-associating domain.:
    • Q8TEU7
  • Contains 1 Ras-GEF domain.:
    • Q8TEU7
genes like me logo Genes that share domains with RAPGEF6: view

No data available for Gene Families for RAPGEF6 Gene

Function for RAPGEF6 Gene

Molecular function for RAPGEF6 Gene

UniProtKB/Swiss-Prot Function: Guanine nucleotide exchange factor (GEF) for Rap1A, Rap2A and M-Ras GTPases. Does not interact with cAMP.

Gene Ontology (GO) - Molecular Function for RAPGEF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IDA 11524421
GO:0005515 protein binding IPI 12095257
GO:0017016 Ras GTPase binding IDA 11524421
GO:0030742 GTP-dependent protein binding IDA 11524421
GO:0070300 phosphatidic acid binding IDA 22797597
genes like me logo Genes that share ontologies with RAPGEF6: view
genes like me logo Genes that share phenotypes with RAPGEF6: view

Animal Models for RAPGEF6 Gene

MGI Knock Outs for RAPGEF6:

miRNA for RAPGEF6 Gene

miRTarBase miRNAs that target RAPGEF6

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for RAPGEF6 Gene

Localization for RAPGEF6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAPGEF6 Gene

Cytoplasm. Cell membrane. Note=Upon binding to M-Ras, it translocates to the plasma membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAPGEF6 Gene COMPARTMENTS Subcellular localization image for RAPGEF6 gene
Compartment Confidence
plasma membrane 5
cytosol 3
nucleus 3
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for RAPGEF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005737 cytoplasm --
GO:0005829 cytosol IDA 22797597
GO:0005886 plasma membrane IDA 11524421
GO:0016324 apical plasma membrane IDA 22797597
genes like me logo Genes that share ontologies with RAPGEF6: view

Pathways for RAPGEF6 Gene

SuperPathways for RAPGEF6 Gene

Superpath Contained pathways
1 Ras signaling pathway
genes like me logo Genes that share pathways with RAPGEF6: view

Pathways by source for RAPGEF6 Gene

1 KEGG pathway for RAPGEF6 Gene

Gene Ontology (GO) - Biological Process for RAPGEF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction --
GO:0007264 small GTPase mediated signal transduction --
GO:0007265 Ras protein signal transduction NAS 11524421
GO:0030033 microvillus assembly IGI 22797597
GO:0043087 regulation of GTPase activity NAS 11524421
genes like me logo Genes that share ontologies with RAPGEF6: view

Compounds for RAPGEF6 Gene

(4) HMDB Compounds for RAPGEF6 Gene

Compound Synonyms Cas Number PubMed IDs
Cyclic AMP
  • Cyclic AMP
60-92-4
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine monophosphate
  • 5'-GMP
85-32-5
Guanosine triphosphate
  • 5'-GTP
86-01-1
genes like me logo Genes that share compounds with RAPGEF6: view

Transcripts for RAPGEF6 Gene

Unigene Clusters for RAPGEF6 Gene

Rap guanine nucleotide exchange factor (GEF) 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RAPGEF6 Gene

No ASD Table

Relevant External Links for RAPGEF6 Gene

GeneLoc Exon Structure for
RAPGEF6
ECgene alternative splicing isoforms for
RAPGEF6

Expression for RAPGEF6 Gene

mRNA expression in normal human tissues for RAPGEF6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAPGEF6 Gene

This gene is overexpressed in Testis (17.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RAPGEF6 Gene

SOURCE GeneReport for Unigene cluster for RAPGEF6 Gene Hs.483329

mRNA Expression by UniProt/SwissProt for RAPGEF6 Gene

Q8TEU7-RPGF6_HUMAN
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.
genes like me logo Genes that share expressions with RAPGEF6: view

Orthologs for RAPGEF6 Gene

This gene was present in the common ancestor of animals.

Orthologs for RAPGEF6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAPGEF6 36
  • 99.61 (n)
  • 99.5 (a)
RAPGEF6 37
  • 100 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 37
  • 93 (a)
OneToMany
RAPGEF6 36
  • 92.65 (n)
  • 94.32 (a)
dog
(Canis familiaris)
Mammalia -- 37
  • 95 (a)
OneToMany
RAPGEF6 36
  • 93.25 (n)
  • 95.03 (a)
mouse
(Mus musculus)
Mammalia Rapgef6 36
  • 89.15 (n)
  • 91.61 (a)
Rapgef6 16
Rapgef6 37
  • 91 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 83 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 81 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Rapgef6 36
  • 88.49 (n)
  • 91.32 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 81 (a)
OneToMany
RAPGEF6 36
  • 77.48 (n)
  • 83.52 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 79 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.28320 36
zebrafish
(Danio rerio)
Actinopterygii rapgef6 36
  • 65.53 (n)
  • 72.69 (a)
rapgef6 37
  • 71 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Gef26 37
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pxf-1 36
  • 50.48 (n)
  • 42.65 (a)
pxf-1 37
  • 34 (a)
OneToMany
Species with no ortholog for RAPGEF6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for RAPGEF6 Gene

ENSEMBL:
Gene Tree for RAPGEF6 (if available)
TreeFam:
Gene Tree for RAPGEF6 (if available)

Paralogs for RAPGEF6 Gene

Selected SIMAP similar genes for RAPGEF6 Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for RAPGEF6 Gene

genes like me logo Genes that share paralogs with RAPGEF6: view

Variants for RAPGEF6 Gene

Sequence variations from dbSNP and Humsavar for RAPGEF6 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs28610 -- 131,496,689(+) gtact(C/T)ctttt intron-variant
rs31239 -- 131,477,684(-) TTACT(A/C)TCACA intron-variant
rs31240 -- 131,475,453(-) ATTCT(A/T)TTTTA intron-variant
rs31241 -- 131,472,505(-) GTGCT(A/G)GAGTT intron-variant
rs31251 -- 131,498,253(-) TGGAC(A/G)AGAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RAPGEF6 Gene

Variant ID Type Subtype PubMed ID
nsv882888 CNV Loss 21882294
esv2730774 CNV Deletion 23290073
esv3284 CNV Deletion 18987735
esv2730775 CNV Deletion 23290073
esv2730776 CNV Deletion 23290073
esv2730777 CNV Deletion 23290073
esv2586698 CNV Deletion 19546169
esv2730778 CNV Deletion 23290073
esv2730779 CNV Deletion 23290073
esv269378 CNV Insertion 20981092
esv273494 CNV Insertion 20981092
esv1452882 CNV Insertion 17803354
nsv509993 CNV Loss 20534489

Relevant External Links for RAPGEF6 Gene

HapMap Linkage Disequilibrium report
RAPGEF6

Disorders for RAPGEF6 Gene

Relevant External Links for RAPGEF6

Genetic Association Database (GAD)
RAPGEF6
Human Genome Epidemiology (HuGE) Navigator
RAPGEF6
genes like me logo Genes that share disorders with RAPGEF6: view

No data available for UniProtKB/Swiss-Prot for RAPGEF6 Gene

Publications for RAPGEF6 Gene

  1. Identification and characterization of RA-GEF-2, a Rap guanine nucleotide exchange factor that serves as a downstream target of M- Ras. (PMID: 11524421) Gao X. … Kataoka T. (J. Biol. Chem. 2001) 2 3 4
  2. Solution structure of the PDZ2 domain from cytosolic human phosphatase hPTP1E complexed with a peptide reveals contribution of the beta2-beta3 loop to PDZ domain-ligand interactions. (PMID: 12095257) Kozlov G. … Ekiel I. (J. Mol. Biol. 2002) 2 3
  3. Junctional adhesion molecule A interacts with Afadin and PDZ-GEF2 to activate Rap1A, regulate beta1 integrin levels, and enhance cell migration. (PMID: 19176753) Severson E.A. … Parkos C.A. (Mol. Biol. Cell 2009) 3 23
  4. Characterisation of PDZ-GEFs, a family of guanine nucleotide exchange factors specific for Rap1 and Rap2. (PMID: 12581858) Kuiperij H.B. … Zwartkruis F.J.T. (Biochim. Biophys. Acta 2003) 3 4
  5. Association of haplotypes spanning PDZ-GEF2, LOC728637 and ACSL6 with schizophrenia in Han Chinese. (PMID: 18718982) Luo X.J. … Su B. (J. Med. Genet. 2008) 3 49

Products for RAPGEF6 Gene

Sources for RAPGEF6 Gene

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